OrphaCode,DiseaseName,PrevalenceType,PrevalenceQualification,PrevalenceClass,ValMoy,PrevalenceGeographic
166024,Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome,Cases/families,Case(s),,4.0,Worldwide
166024,Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
166032,Multiple epiphyseal dysplasia-miniepiphyses syndrome,Cases/families,Case(s),,2.0,Worldwide
166032,Multiple epiphyseal dysplasia-miniepiphyses syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
58,Alexander disease,Annual incidence,Value and class,<1 / 1 000 000,0.037,Japan
58,Alexander disease,Point prevalence,Class only,Unknown,0.0,Worldwide
166029,Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome,Cases/families,Case(s),,3.0,Worldwide
166029,Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
61,Alpha-mannosidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
61,Alpha-mannosidosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.09,Australia
61,Alpha-mannosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.13,Norway
61,Alpha-mannosidosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.09,Netherlands
61,Alpha-mannosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.12,Portugal
61,Alpha-mannosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Czech Republic
61,Alpha-mannosidosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,Sweden
166038,"Metaphyseal chondrodysplasia, Kaitila type",Cases/families,Case(s),,2.0,Worldwide
166038,"Metaphyseal chondrodysplasia, Kaitila type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,Cases/families,Case(s),,12.0,Worldwide
166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93,Aspartylglucosaminuria,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Australia
93,Aspartylglucosaminuria,Point prevalence,Class only,Unknown,0.0,Worldwide
93,Aspartylglucosaminuria,Prevalence at birth,Value and class,1-9 / 1 000 000,0.62,Sweden
93,Aspartylglucosaminuria,Prevalence at birth,Value and class,1-9 / 100 000,3.35,Finland
585,Multiple sulfatase deficiency,Cases/families,Case(s),,154.0,Worldwide
585,Multiple sulfatase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Worldwide
118,Beta-mannosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.14,Europe
118,Beta-mannosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.16,Czech Republic
118,Beta-mannosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.13,Netherlands
118,Beta-mannosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.12,Portugal
118,Beta-mannosidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
141,Canavan disease,Point prevalence,Class only,Unknown,0.0,Worldwide
141,Canavan disease,Annual incidence,Value and class,1-9 / 100 000,7.0,Specific population
141,Canavan disease,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
166063,Pontocerebellar hypoplasia type 4,Cases/families,Family(ies),,10.0,Worldwide
166063,Pontocerebellar hypoplasia type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
166078,Von Willebrand disease type 1,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
166073,Pontocerebellar hypoplasia type 6,Cases/families,Case(s),,10.0,Worldwide
166073,Pontocerebellar hypoplasia type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Worldwide
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.31,France
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.59,Germany
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 100 000,2.1,United Kingdom
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.52,Australia
213,Cystinosis,Point prevalence,Value and class,1-9 / 100 000,1.5,Europe
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.87,Denmark
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Sweden
213,Cystinosis,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Specific population
166084,Von Willebrand disease type 2A,Point prevalence,Class only,Unknown,0.0,Worldwide
333,Farber disease,Cases/families,Case(s),,96.0,Worldwide
333,Farber disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
166081,Von Willebrand disease type 2,Point prevalence,Class only,1-9 / 1 000 000,0.935,Worldwide
349,Fucosidosis,Cases/families,Case(s),,161.0,Worldwide
349,Fucosidosis,Point prevalence,Value and class,<1 / 1 000 000,0.06,Worldwide
349,Fucosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Sweden
349,Fucosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.63,Cuba
166090,Von Willebrand disease type 2M,Point prevalence,Class only,Unknown,0.0,Worldwide
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Europe
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.17,Portugal
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.83,Italy
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.25,Netherlands
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.37,Czech Republic
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,11.5,Austria
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.5,United States
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.68,Australia
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.0,China
365,Glycogen storage disease due to acid maltase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.72,Sweden
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.3,Israel
365,Glycogen storage disease due to acid maltase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Specific population
365,Glycogen storage disease due to acid maltase deficiency,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
166087,Von Willebrand disease type 2B,Point prevalence,Class only,Unknown,0.0,Worldwide
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,United States
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
166093,Von Willebrand disease type 2N,Point prevalence,Class only,Unknown,0.0,Worldwide
368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.035,Spain
166096,Von Willebrand disease type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.1865,Worldwide
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.037,Austria
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.24,Finland
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.016,France
166096,Von Willebrand disease type 3,Prevalence at birth,Value and class,<1 / 1 000 000,0.044,Greece
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.16,Israel
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.055,Italy
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.037,Netherlands
166096,Von Willebrand disease type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Norway
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.022,Portugal
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.011,Spain
166096,Von Willebrand disease type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.312,Sweden
166096,Von Willebrand disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.027,United Kingdom
367,Glycogen storage disease due to glycogen branching enzyme deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Worldwide
367,Glycogen storage disease due to glycogen branching enzyme deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
371,Glycogen storage disease due to muscle phosphofructokinase deficiency,Cases/families,Case(s),,100.0,Worldwide
371,Glycogen storage disease due to muscle phosphofructokinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
166105,FASTKD2-related infantile mitochondrial encephalomyopathy,Cases/families,Case(s),,3.0,Worldwide
166105,FASTKD2-related infantile mitochondrial encephalomyopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.3,Israel
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Specific population
447,Paroxysmal nocturnal hemoglobinuria,Annual incidence,Value and class,1-9 / 1 000 000,0.35,United Kingdom
447,Paroxysmal nocturnal hemoglobinuria,Point prevalence,Value and class,1-9 / 100 000,3.81,United Kingdom
447,Paroxysmal nocturnal hemoglobinuria,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
166108,Birk-Barel syndrome,Cases/families,Family(ies),,1.0,Worldwide
166108,Birk-Barel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
166113,Bazex syndrome,Cases/families,Case(s),,145.0,Worldwide
166113,Bazex syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
535,Rare cutaneous lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,50.0,Europe
535,Rare cutaneous lupus erythematosus,Annual incidence,Value and class,1-9 / 100 000,4.3,United States
535,Rare cutaneous lupus erythematosus,Point prevalence,Value and class,6-9 / 10 000,73.0,United States
535,Rare cutaneous lupus erythematosus,Annual incidence,Value and class,1-9 / 100 000,4.0,Sweden
166119,Isolated osteopoikilosis,Point prevalence,Value and class,1-9 / 100 000,2.0,Worldwide
166119,Isolated osteopoikilosis,Annual incidence,Value and class,1-9 / 100 000,2.0,Worldwide
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.327,United States
487,Krabbe disease,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Worldwide
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,France
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.71,Australia
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 100 000,1.35,Netherlands
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 100 000,1.21,Portugal
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Germany
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Turkey
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Czech Republic
487,Krabbe disease,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Sweden
166260,Dentinogenesis imperfecta type 2,Point prevalence,Value and class,1-5 / 10 000,14.6,Europe
166265,Dentinogenesis imperfecta type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.16,Europe
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.23,Germany
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.15,Netherlands
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.42,Portugal
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.23,Sweden
583,Mucopolysaccharidosis type 6,Point prevalence,Value and class,1-9 / 100 000,3.3,Sweden
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,Norway
583,Mucopolysaccharidosis type 6,Point prevalence,Value and class,1-9 / 100 000,2.2,Norway
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Denmark
583,Mucopolysaccharidosis type 6,Point prevalence,Value and class,1-9 / 100 000,3.7,Denmark
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Czech Republic
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.37,Australia
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Canada
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.14,"Taiwan, Province of China"
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.27,Estonia
583,Mucopolysaccharidosis type 6,Point prevalence,Value and class,<1 / 1 000 000,0.059,Colombia
583,Mucopolysaccharidosis type 6,Point prevalence,Value and class,1-9 / 1 000 000,0.16,Europe
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 100 000,2.3,Turkey
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,<1 / 1 000 000,0.0132,Poland
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 100 000,7.85,Saudi Arabia
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.28,Brazil
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,<1 / 1 000 000,0.03,Japan
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.11,Switzerland
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Tunisia
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,<1 / 1 000 000,0.019,"Korea, Republic of"
583,Mucopolysaccharidosis type 6,Prevalence at birth,Value and class,<1 / 1 000 000,0.04,United States
583,Mucopolysaccharidosis type 6,Point prevalence,Value and class,<1 / 1 000 000,0.011,United States
166272,Odontochondrodysplasia,Cases/families,Case(s),,11.0,Worldwide
166272,Odontochondrodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
576,Mucolipidosis type II,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,Europe
576,Mucolipidosis type II,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
576,Mucolipidosis type II,Prevalence at birth,Value and class,1-9 / 1 000 000,0.81,Portugal
576,Mucolipidosis type II,Prevalence at birth,Value and class,1-9 / 1 000 000,0.16,Netherlands
576,Mucolipidosis type II,Prevalence at birth,Value and class,1-5 / 10 000,16.2,Specific population
576,Mucolipidosis type II,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Sweden
166277,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,Cases/families,Case(s),,3.0,Worldwide
166277,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
812,Sialidosis type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
812,Sialidosis type 1,Prevalence at birth,Class only,<1 / 1 000 000,0.0,Europe
166282,Hereditary sick sinus syndrome,Cases/families,Case(s),,11.0,Worldwide
166282,Hereditary sick sinus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
578,Mucolipidosis type IV,Point prevalence,Class only,Unknown,0.0,Worldwide
578,Mucolipidosis type IV,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Sweden
578,Mucolipidosis type IV,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Specific population
166286,Porokeratotic eccrine ostial and dermal duct nevus,Cases/families,Case(s),,45.0,Worldwide
166286,Porokeratotic eccrine ostial and dermal duct nevus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
577,Mucolipidosis type III,Annual incidence,Value and class,1-9 / 1 000 000,0.985,Europe
577,Mucolipidosis type III,Annual incidence,Value and class,<1 / 1 000 000,0.08,Netherlands
577,Mucolipidosis type III,Annual incidence,Value and class,1-9 / 1 000 000,1.68,Portugal
577,Mucolipidosis type III,Point prevalence,Value and class,1-5 / 10 000,29.55,Europe
577,Mucolipidosis type III,Point prevalence,Value and class,1-9 / 100 000,2.4,Netherlands
577,Mucolipidosis type III,Point prevalence,Value and class,1-5 / 10 000,50.4,Portugal
166291,Dirofilariasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
166308,Benign infantile focal epilepsy with midline spikes and waves during sleep,Cases/families,Case(s),,36.0,Worldwide
166308,Benign infantile focal epilepsy with midline spikes and waves during sleep,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2912,Poliomyelitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2912,Poliomyelitis,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 100 000,1.49,Portugal
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,Netherlands
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.19,Czech Republic
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.26,Australia
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.95,Turkey
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,United States
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Europe
796,Sandhoff disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
796,Sandhoff disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Sweden
166409,Photosensitive occipital lobe epilepsy,Point prevalence,Value and class,1-5 / 10 000,30.0,Worldwide
801,Scleroderma,Annual incidence,Value and class,1-9 / 100 000,1.41,Worldwide
801,Scleroderma,Point prevalence,Value and class,1-5 / 10 000,42.0,Worldwide
801,Scleroderma,Annual incidence,Value and class,1-9 / 100 000,1.5,Australia
801,Scleroderma,Point prevalence,Value and class,1-5 / 10 000,23.0,Australia
801,Scleroderma,Point prevalence,Value and class,>1 / 1000,469.0,Specific population
461,Recessive X-linked ichthyosis,Annual incidence,Value and class,1-5 / 10 000,15.0,Europe
461,Recessive X-linked ichthyosis,Point prevalence,Value and class,1-5 / 10 000,16.6,Europe
461,Recessive X-linked ichthyosis,Annual incidence,Value and class,1-9 / 100 000,9.9,Italy
166421,Orgasm-induced epilepsy,Cases/families,Case(s),,7.0,Worldwide
166421,Orgasm-induced epilepsy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
166418,Eating reflex epilepsy,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Worldwide
584,Mucopolysaccharidosis type 7,Point prevalence,Value and class,<1 / 1 000 000,0.01,Europe
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,1-9 / 1 000 000,0.24,Netherlands
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Brazil
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Czech Republic
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Japan
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,<1 / 1 000 000,0.038,Switzerland
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,<1 / 1 000 000,0.047,Australia
584,Mucopolysaccharidosis type 7,Point prevalence,Value and class,<1 / 1 000 000,0.007,United States
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,<1 / 1 000 000,0.027,United States
584,Mucopolysaccharidosis type 7,Prevalence at birth,Value and class,1-9 / 1 000 000,0.29,Canada
166412,Hot water reflex epilepsy,Point prevalence,Value and class,1-9 / 100 000,4.0,Worldwide
166433,Epilepsy with reading-induced seizures,Cases/families,Case(s),,101.0,Worldwide
166433,Epilepsy with reading-induced seizures,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.5,Europe
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.5,Austria
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.9,Belgium
881,Turner syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.5,Bulgaria
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Croatia
881,Turner syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.4,Denmark
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.1,France
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Germany
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Hungary
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.1,Ireland
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.4,Italy
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Malta
881,Turner syndrome,Prevalence at birth,Value and class,1-5 / 10 000,14.0,Netherlands
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.2,Norway
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Poland
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Portugal
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Spain
881,Turner syndrome,Prevalence at birth,Value and class,1-5 / 10 000,22.4,Switzerland
881,Turner syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.1,United Kingdom
881,Turner syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.3,Ukraine
881,Turner syndrome,Prevalence at birth,Value and class,6-9 / 10 000,70.0,Japan
881,Turner syndrome,Prevalence at birth,Value and class,1-5 / 10 000,42.5,Singapore
881,Turner syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
166424,Thinking epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,2.3,France
95,Friedreich ataxia,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Italy
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,1.1,Italy
95,Friedreich ataxia,Prevalence at birth,Value and class,1-9 / 100 000,6.2,Spain
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,4.3,Spain
95,Friedreich ataxia,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Finland
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Finland
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 1 000 000,0.7,Denmark
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 1 000 000,0.9,Portugal
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,1.8,United Kingdom
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 1 000 000,0.9,Greece
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,1.0,Norway
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,2.1,Germany
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Sweden
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 1 000 000,0.27,Czech Republic
95,Friedreich ataxia,Point prevalence,Value and class,1-9 / 100 000,3.03,Russian Federation
848,Beta-thalassemia,Annual incidence,Value and class,1-9 / 100 000,1.0,Worldwide
848,Beta-thalassemia,Point prevalence,Value and class,1-9 / 1 000 000,0.5,France
848,Beta-thalassemia,Annual incidence,Value and class,1-5 / 10 000,10.0,Europe
848,Beta-thalassemia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
846,Alpha-thalassemia,Prevalence at birth,Class only,Unknown,0.0,Europe
846,Alpha-thalassemia,Prevalence at birth,Value and class,1-5 / 10 000,10.3,United States
846,Alpha-thalassemia,Point prevalence,Class only,Unknown,0.0,Europe
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,19.3912,Europe
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,11.1319,Europe
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,28.5714,Austria
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,8.39,Austria
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,35.0877,Belgium
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,20.1429,Belgium
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,40.0,Bulgaria
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,2.26,Bulgaria
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,12.6358,Cyprus
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,3.35,Cyprus
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,15.29,Czech Republic
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,8.7775,Czech Republic
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,17.41,Denmark
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,9.9946,Denmark
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,22.2222,Estonia
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,6.18,Estonia
586,Cystic fibrosis,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Finland
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,1.1027,Finland
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,21.15,France
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,12.1416,France
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,19.5017,Germany
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,11.1954,Germany
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,28.5714,Greece
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,5.21,Greece
586,Cystic fibrosis,Prevalence at birth,Class only,Unknown,0.0,Hungary
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,4.09,Hungary
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,36.36,Ireland
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,20.8733,Ireland
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,17.809,Italy
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,10.2236,Italy
586,Cystic fibrosis,Prevalence at birth,Class only,Unknown,0.0,Latvia
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,1.04,Latvia
586,Cystic fibrosis,Prevalence at birth,Class only,Unknown,0.0,Lithuania
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,1.3,Lithuania
586,Cystic fibrosis,Prevalence at birth,Class only,Unknown,0.0,Luxembourg
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,4.31,Luxembourg
586,Cystic fibrosis,Prevalence at birth,Class only,Unknown,0.0,Malta
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,5.79,Malta
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,16.58,Netherlands
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,9.5181,Netherlands
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,11.5474,Norway
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,6.629,Norway
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,17.4881,Poland
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,10.0394,Poland
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,12.549,Portugal
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,7.204,Portugal
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,48.6381,Romania
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,1.06,Romania
586,Cystic fibrosis,Prevalence at birth,Value and class,1-9 / 100 000,9.7119,Russian Federation
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,5.5753,Russian Federation
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,15.38,Slovakia
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,8.8292,Slovakia
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,33.3333,Slovenia
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,3.28,Slovenia
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,16.5048,Spain
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 100 000,9.4749,Spain
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,17.9285,Sweden
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,10.2922,Sweden
586,Cystic fibrosis,Prevalence at birth,Value and class,1-5 / 10 000,41.9991,United Kingdom
586,Cystic fibrosis,Point prevalence,Value and class,1-5 / 10 000,13.7,United Kingdom
586,Cystic fibrosis,Annual incidence,Value and class,1-5 / 10 000,13.1995,Brazil
586,Cystic fibrosis,Point prevalence,Value and class,1-9 / 1 000 000,0.7786,China
262,Duchenne and Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.23,United Kingdom
262,Duchenne and Becker muscular dystrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
262,Duchenne and Becker muscular dystrophy,Point prevalence,Class only,1-5 / 10 000,0.0,United States
261,Emery-Dreifuss muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
550,MELAS,Point prevalence,Value and class,1-9 / 1 000 000,0.18,Japan
550,MELAS,Point prevalence,Class only,Unknown,0.0,Worldwide
550,MELAS,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Europe
550,MELAS,Point prevalence,Value and class,1-9 / 100 000,1.63,Finland
550,MELAS,Point prevalence,Value and class,>1 / 1000,236.0,Specific population
269,Facioscapulohumeral dystrophy,Point prevalence,Value and class,1-9 / 100 000,4.5,Europe
269,Facioscapulohumeral dystrophy,Point prevalence,Value and class,1-9 / 100 000,4.4,Italy
269,Facioscapulohumeral dystrophy,Point prevalence,Value and class,1-9 / 100 000,3.95,United Kingdom
269,Facioscapulohumeral dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.0,Japan
269,Facioscapulohumeral dystrophy,Point prevalence,Value and class,1-5 / 10 000,12.0,Netherlands
269,Facioscapulohumeral dystrophy,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Netherlands
480,Kearns-Sayre syndrome,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
480,Kearns-Sayre syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Finland
480,Kearns-Sayre syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,United Kingdom
480,Kearns-Sayre syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Israel
593,Myofibrillar myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
551,MERRF,Prevalence at birth,Value and class,1-9 / 1 000 000,0.494,Sweden
551,MERRF,Point prevalence,Class only,Unknown,0.0,Europe
597,Central core disease,Point prevalence,Value and class,1-9 / 1 000 000,0.4,United Kingdom
597,Central core disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
607,Nemaline myopathy,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
607,Nemaline myopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.2,United Kingdom
163746,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,Cases/families,Case(s),,40.0,Worldwide
163746,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
684,Paramyotonia congenita of Von Eulenburg,Point prevalence,Class only,Unknown,0.0,Worldwide
684,Paramyotonia congenita of Von Eulenburg,Point prevalence,Value and class,1-9 / 1 000 000,0.17,United Kingdom
684,Paramyotonia congenita of Von Eulenburg,Point prevalence,Value and class,1-9 / 1 000 000,0.94,Netherlands
684,Paramyotonia congenita of Von Eulenburg,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
163931,Acrodermatitis continua of Hallopeau,Point prevalence,Value and class,1-9 / 100 000,6.0,Worldwide
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,12.5,Worldwide
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,10.4,United Kingdom
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,7.9,Iceland
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,5.3,Serbia
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,9.13,Japan
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.46,"Taiwan, Province of China"
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,14.3,South Africa
273,Steinert myotonic dystrophy,Point prevalence,Value and class,6-9 / 10 000,76.3,Specific population
273,Steinert myotonic dystrophy,Point prevalence,Value and class,>1 / 1000,210.5,Specific population
273,Steinert myotonic dystrophy,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Serbia
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,9.31,Italy
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,11.95,Ireland
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,20.0,Specific population
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,5.7,Specific population
273,Steinert myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,18.1,Croatia
163937,"X-linked intellectual disability, Najm type",Cases/families,Family(ies),,35.0,Worldwide
163937,"X-linked intellectual disability, Najm type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163934,Atopic keratoconjunctivitis,Point prevalence,Value and class,1-5 / 10 000,15.0,Europe
614,Thomsen and Becker disease,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
614,Thomsen and Becker disease,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
614,Thomsen and Becker disease,Point prevalence,Value and class,1-9 / 100 000,7.3,Finland
614,Thomsen and Becker disease,Point prevalence,Value and class,1-9 / 1 000 000,0.9,Italy
614,Thomsen and Becker disease,Point prevalence,Value and class,1-9 / 1 000 000,0.52,United Kingdom
614,Thomsen and Becker disease,Point prevalence,Value and class,1-9 / 1 000 000,0.75,Netherlands
163921,Posttransplant acute limbic encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",Cases/families,Case(s),,10.0,Worldwide
163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163971,"X-linked intellectual disability, Cilliers type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163971,"X-linked intellectual disability, Cilliers type",Cases/families,Case(s),,4.0,Worldwide
163976,"X-linked intellectual disability, Van Esch type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163976,"X-linked intellectual disability, Van Esch type",Cases/families,Case(s),,7.0,Worldwide
163979,X-linked intellectual disability-craniofacioskeletal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163979,X-linked intellectual disability-craniofacioskeletal syndrome,Cases/families,Case(s),,9.0,Worldwide
163956,"X-linked intellectual disability, Nascimento type",Cases/families,Case(s),,8.0,Worldwide
163956,"X-linked intellectual disability, Nascimento type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163961,X-linked cerebral-cerebellar-coloboma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163961,X-linked cerebral-cerebellar-coloboma syndrome,Cases/families,Case(s),,3.0,Worldwide
164726,Acute myeloid leukemia and myelodysplastic syndromes related to radiation,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Worldwide
324,Fabry disease,Prevalence at birth,Value and class,1-9 / 1 000 000,6.66,Worldwide
324,Fabry disease,Prevalence at birth,Value and class,1-9 / 1 000 000,6.96,Australia
324,Fabry disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.21,Netherlands
324,Fabry disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.12,Portugal
324,Fabry disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.52,Czech Republic
324,Fabry disease,Prevalence at birth,Value and class,<1 / 1 000 000,0.015,Turkey
324,Fabry disease,Point prevalence,Value and class,1-9 / 1 000 000,0.15,United Kingdom
324,Fabry disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.25,Japan
324,Fabry disease,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
324,Fabry disease,Prevalence at birth,Value and class,1-9 / 100 000,1.11,Sweden
324,Fabry disease,Point prevalence,Value and class,1-9 / 1 000 000,0.118,China
163985,Hyperekplexia-epilepsy syndrome,Cases/families,Case(s),,4.0,Worldwide
163985,Hyperekplexia-epilepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
778,Rett syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Europe
778,Rett syndrome,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
778,Rett syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,France
778,Rett syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
778,Rett syndrome,Point prevalence,Value and class,1-9 / 100 000,5.0,Sweden
778,Rett syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Japan
778,Rett syndrome,Prevalence at birth,Class only,1-9 / 100 000,0.0,United States
778,Rett syndrome,Point prevalence,Value and class,1-9 / 100 000,1.6,United Kingdom
778,Rett syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.05,Australia
778,Rett syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Australia
778,Rett syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Hong Kong
72,Angelman syndrome,Point prevalence,Value and class,1-9 / 100 000,7.5,Worldwide
72,Angelman syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Europe
72,Angelman syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
72,Angelman syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Australia
72,Angelman syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Australia
72,Angelman syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Spain
72,Angelman syndrome,Point prevalence,Value and class,1-9 / 100 000,8.3,Spain
72,Angelman syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.8,Estonia
72,Angelman syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Estonia
72,Angelman syndrome,Point prevalence,Value and class,1-5 / 10 000,10.0,Denmark
72,Angelman syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Denmark
72,Angelman syndrome,Point prevalence,Value and class,1-9 / 100 000,4.0,United Kingdom
307,Juvenile myoclonic epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
307,Juvenile myoclonic epilepsy,Point prevalence,Value and class,1-9 / 100 000,1.7,Norway
1941,Juvenile absence epilepsy,Annual incidence,Value and class,1-9 / 100 000,7.5,Europe
1941,Juvenile absence epilepsy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
892,Von Hippel-Lindau disease,Prevalence at birth,Value and class,1-9 / 100 000,2.3,United Kingdom
892,Von Hippel-Lindau disease,Point prevalence,Value and class,1-9 / 100 000,1.1,United Kingdom
892,Von Hippel-Lindau disease,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
892,Von Hippel-Lindau disease,Point prevalence,Value and class,1-9 / 100 000,2.13,Denmark
892,Von Hippel-Lindau disease,Prevalence at birth,Value and class,1-9 / 100 000,3.66,Denmark
731,Autosomal recessive polycystic kidney disease,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Germany
731,Autosomal recessive polycystic kidney disease,Point prevalence,Class only,Unknown,0.0,Europe
164736,Familial advanced sleep-phase syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
138,CHARGE syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.5,Canada
138,CHARGE syndrome,Prevalence at birth,Value and class,1-9 / 100 000,6.5,Worldwide
138,CHARGE syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
138,CHARGE syndrome,Point prevalence,Value and class,1-9 / 100 000,9.0,Europe
558,Marfan syndrome,Annual incidence,Value and class,1-5 / 10 000,25.0,Europe
558,Marfan syndrome,Point prevalence,Value and class,1-5 / 10 000,15.0,Worldwide
558,Marfan syndrome,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
558,Marfan syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.2,United Kingdom
558,Marfan syndrome,Point prevalence,Value and class,1-9 / 100 000,7.0,United Kingdom
558,Marfan syndrome,Point prevalence,Value and class,1-5 / 10 000,10.0,United States
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.2,Europe
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,5.2,Europe
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,3.85,Worldwide
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.35,Worldwide
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.06,United Kingdom
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,4.9,United Kingdom
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.1,Ireland
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,4.7,Ireland
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.4,Finland
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,6.4,Finland
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.0,Canada
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,4.9,Canada
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.46,United States
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.37,Uruguay
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,1.9,Uruguay
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.4,Denmark
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,3.1,Denmark
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,3.0,Italy
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,7.9,Italy
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.0,France
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.4,Spain
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,5.4,Spain
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.2,Norway
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,4.0,Norway
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 1 000 000,0.51,"Taiwan, Province of China"
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,1.97,"Taiwan, Province of China"
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.6,Faroe Islands
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 1 000 000,0.42,"Iran, Islamic Republic of"
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,1.57,"Iran, Islamic Republic of"
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,2.5,Specific population
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-5 / 10 000,10.8,Specific population
803,Amyotrophic lateral sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.4,Specific population
803,Amyotrophic lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,6.0,Specific population
100,Ataxia-telangiectasia,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Norway
100,Ataxia-telangiectasia,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Norway
100,Ataxia-telangiectasia,Prevalence at birth,Value and class,1-9 / 100 000,1.7,United States
100,Ataxia-telangiectasia,Point prevalence,Value and class,1-9 / 1 000 000,0.49,Europe
100,Ataxia-telangiectasia,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Portugal
100,Ataxia-telangiectasia,Point prevalence,Value and class,1-9 / 1 000 000,0.25,France
100,Ataxia-telangiectasia,Point prevalence,Value and class,1-9 / 1 000 000,0.25,United Kingdom
100,Ataxia-telangiectasia,Point prevalence,Value and class,1-9 / 100 000,1.19,Italy
733,Familial adenomatous polyposis,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
733,Familial adenomatous polyposis,Point prevalence,Value and class,1-9 / 100 000,6.0,Europe
733,Familial adenomatous polyposis,Annual incidence,Value and class,1-5 / 10 000,19.0,Denmark
733,Familial adenomatous polyposis,Point prevalence,Value and class,1-9 / 100 000,4.65,Denmark
733,Familial adenomatous polyposis,Annual incidence,Value and class,1-9 / 100 000,8.6,Sweden
733,Familial adenomatous polyposis,Point prevalence,Value and class,1-9 / 100 000,3.2,Sweden
733,Familial adenomatous polyposis,Annual incidence,Value and class,1-5 / 10 000,15.8,Finland
733,Familial adenomatous polyposis,Point prevalence,Value and class,1-9 / 100 000,2.63,Finland
733,Familial adenomatous polyposis,Prevalence at birth,Value and class,1-5 / 10 000,11.6,United Kingdom
733,Familial adenomatous polyposis,Point prevalence,Value and class,1-9 / 100 000,5.3,United Kingdom
733,Familial adenomatous polyposis,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Australia
733,Familial adenomatous polyposis,Point prevalence,Value and class,1-9 / 100 000,2.8,Australia
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,4.0,Greece
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Worldwide
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,2.7,Worldwide
399,Huntington disease,Point prevalence,Value and class,1-5 / 10 000,12.0,Europe
399,Huntington disease,Point prevalence,Value and class,1-5 / 10 000,10.6,Ireland
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.61,United Kingdom
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,5.4,United Kingdom
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Italy
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,6.35,Italy
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.69,Canada
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.3,United States
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,1.9,United States
399,Huntington disease,Point prevalence,Value and class,1-9 / 1 000 000,0.65,Japan
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.65,Australia
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,6.3,Australia
399,Huntington disease,Annual incidence,Value and class,<1 / 1 000 000,0.046,China
399,Huntington disease,Point prevalence,Value and class,1-9 / 1 000 000,0.37,China
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,5.2,Slovenia
399,Huntington disease,Annual incidence,Value and class,<1 / 1 000 000,0.08,"Taiwan, Province of China"
399,Huntington disease,Point prevalence,Value and class,1-9 / 1 000 000,0.42,"Taiwan, Province of China"
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Iceland
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,1.0,Iceland
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,6.7,Norway
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,4.7,Sweden
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.33,Greece
399,Huntington disease,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Finland
399,Huntington disease,Point prevalence,Value and class,1-5 / 10 000,21.0,Egypt
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,4.64,Cyprus
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Cyprus
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,5.8,Denmark
399,Huntington disease,Point prevalence,Value and class,1-9 / 100 000,4.94,Spain
399,Huntington disease,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Spain
165955,Wound myiasis,Cases/families,Case(s),,23.0,Worldwide
165955,Wound myiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
501,Lafora disease,Point prevalence,Value and class,1-9 / 1 000 000,0.1,France
501,Lafora disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
501,Lafora disease,Cases/families,Case(s),,300.0,Worldwide
501,Lafora disease,Point prevalence,Value and class,1-9 / 1 000 000,0.02,Worldwide
165958,Cavitary myiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,95.0,Worldwide
870,Down syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
870,Down syndrome,Prevalence at birth,Value and class,>1 / 1000,101.0,Europe
870,Down syndrome,Point prevalence,Value and class,1-5 / 10 000,57.0,Europe
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,63.7,France
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,98.3,Germany
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,70.0,Belgium
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,74.0,Italy
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,91.2,Netherlands
870,Down syndrome,Prevalence at birth,Value and class,>1 / 1000,110.0,Norway
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,69.0,Spain
870,Down syndrome,Prevalence at birth,Value and class,1-5 / 10 000,38.0,Portugal
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,91.6,United Kingdom
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,98.0,Switzerland
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,66.0,Poland
870,Down syndrome,Prevalence at birth,Value and class,1-5 / 10 000,59.0,Denmark
870,Down syndrome,Prevalence at birth,Value and class,1-5 / 10 000,44.0,Croatia
870,Down syndrome,Prevalence at birth,Value and class,6-9 / 10 000,75.0,Hungary
870,Down syndrome,Prevalence at birth,Value and class,>1 / 1000,235.0,Ireland
870,Down syndrome,Prevalence at birth,Value and class,>1 / 1000,100.0,Ukraine
870,Down syndrome,Prevalence at birth,Value and class,>1 / 1000,174.0,Japan
870,Down syndrome,Point prevalence,Value and class,6-9 / 10 000,66.0,United Kingdom
870,Down syndrome,Prevalence at birth,Value and class,>1 / 1000,126.0,United States
870,Down syndrome,Prevalence at birth,Value and class,>1 / 1000,130.0,South Africa
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.47,Europe
512,Metachromatic leukodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.42,Netherlands
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.85,Portugal
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Germany
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.43,Turkey
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.09,Australia
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.69,Czech Republic
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Poland
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,2.5,United States
512,Metachromatic leukodystrophy,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
512,Metachromatic leukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.73,Sweden
166016,"Multiple epiphyseal dysplasia, Lowry type",Cases/families,Case(s),,2.0,Worldwide
166016,"Multiple epiphyseal dysplasia, Lowry type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
567,22q11.2 deletion syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.6,Europe
567,22q11.2 deletion syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.3,France
567,22q11.2 deletion syndrome,Prevalence at birth,Value and class,1-5 / 10 000,37.5,Worldwide
567,22q11.2 deletion syndrome,Prevalence at birth,Value and class,1-5 / 10 000,16.8,United States
567,22q11.2 deletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
567,22q11.2 deletion syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
232,Sickle cell anemia,Prevalence at birth,Value and class,1-5 / 10 000,42.0,France
232,Sickle cell anemia,Prevalence at birth,Value and class,1-5 / 10 000,25.0,Germany
232,Sickle cell anemia,Point prevalence,Value and class,1-5 / 10 000,30.0,United States
232,Sickle cell anemia,Prevalence at birth,Value and class,1-5 / 10 000,47.5,Belgium
232,Sickle cell anemia,Prevalence at birth,Value and class,1-5 / 10 000,41.7,United Kingdom
232,Sickle cell anemia,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
232,Sickle cell anemia,Prevalence at birth,Value and class,1-5 / 10 000,32.8,United States
232,Sickle cell anemia,Prevalence at birth,Value and class,>1 / 1000,344.8,Guadeloupe
232,Sickle cell anemia,Prevalence at birth,Value and class,>1 / 1000,248.75,Martinique
232,Sickle cell anemia,Prevalence at birth,Value and class,>1 / 1000,467.3,Guyana
232,Sickle cell anemia,Prevalence at birth,Value and class,1-5 / 10 000,20.15,Reunion
232,Sickle cell anemia,Annual incidence,Value and class,1-5 / 10 000,21.6262,Brazil
536,Systemic lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,47.0,France
536,Systemic lupus erythematosus,Point prevalence,Value and class,6-9 / 10 000,64.2,Martinique
536,Systemic lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,14.7,New Zealand
536,Systemic lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,20.6,"Korea, Republic of"
536,Systemic lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,53.6,United States
536,Systemic lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,37.0,"Taiwan, Province of China"
536,Systemic lupus erythematosus,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
536,Systemic lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,28.0,Finland
536,Systemic lupus erythematosus,Annual incidence,Value and class,1-9 / 100 000,5.14,Worldwide
536,Systemic lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,43.7,Worldwide
536,Systemic lupus erythematosus,Annual incidence,Value and class,6-9 / 10 000,81.84,Poland
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,Cases/families,Case(s),,59.0,Worldwide
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
534,Oculocerebrorenal syndrome of Lowe,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Worldwide
534,Oculocerebrorenal syndrome of Lowe,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
534,Oculocerebrorenal syndrome of Lowe,Point prevalence,Value and class,1-9 / 1 000 000,0.2,United Kingdom
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.05,Europe
790,Retinoblastoma,Prevalence at birth,Value and class,1-9 / 100 000,4.6,"Taiwan, Province of China"
790,Retinoblastoma,Prevalence at birth,Value and class,1-9 / 100 000,5.9,"Korea, Republic of"
790,Retinoblastoma,Lifetime Prevalence,Value and class,1-9 / 100 000,1.05,Europe
790,Retinoblastoma,Prevalence at birth,Value and class,1-9 / 100 000,6.0,Worldwide
790,Retinoblastoma,Prevalence at birth,Value and class,1-9 / 100 000,5.05,Japan
790,Retinoblastoma,Point prevalence,Class only,Unknown,0.0,Europe
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.018,Austria
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.073,Belgium
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.035,Bulgaria
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.04,Croatia
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.018,Estonia
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.053,Finland
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.033,Germany
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.071,Ireland
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.045,Italy
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.016,Latvia
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.017,Lithuania
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.094,Malta
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.071,Norway
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.038,Poland
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.047,Portugal
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.042,Slovakia
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.038,Slovenia
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.048,Spain
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.039,Switzerland
790,Retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.071,United Kingdom
790,Retinoblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.107,Netherlands
165991,Exercise-induced hyperinsulinism,Cases/families,Case(s),,17.0,Worldwide
165991,Exercise-induced hyperinsulinism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
652,Multiple endocrine neoplasia type 1,Point prevalence,Value and class,1-9 / 100 000,3.3,Europe
908,Fragile X syndrome,Point prevalence,Value and class,1-5 / 10 000,32.5,Worldwide
908,Fragile X syndrome,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
908,Fragile X syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.7,United States
908,Fragile X syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.3,France
908,Fragile X syndrome,Prevalence at birth,Value and class,1-5 / 10 000,19.0,Spain
908,Fragile X syndrome,Prevalence at birth,Value and class,1-5 / 10 000,16.11,Canada
908,Fragile X syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.4,Europe
3099,Rheumatic fever,Annual incidence,Value and class,1-9 / 100 000,5.0,Europe
3099,Rheumatic fever,Annual incidence,Value and class,1-5 / 10 000,12.5,Canada
3099,Rheumatic fever,Annual incidence,Value and class,1-5 / 10 000,12.5,Spain
3099,Rheumatic fever,Annual incidence,Value and class,>1 / 1000,100.0,Australia
3099,Rheumatic fever,Annual incidence,Value and class,1-5 / 10 000,30.0,India
3099,Rheumatic fever,Annual incidence,Value and class,>1 / 1000,100.0,Mexico
3099,Rheumatic fever,Annual incidence,Value and class,1-9 / 100 000,5.0,Latin America
3099,Rheumatic fever,Annual incidence,Value and class,1-9 / 100 000,7.6,New Zealand
3099,Rheumatic fever,Point prevalence,Class only,Unknown,0.0,Worldwide
739,Prader-Willi syndrome,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
739,Prader-Willi syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
739,Prader-Willi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.1,Europe
739,Prader-Willi syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
739,Prader-Willi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.7,Belgium
739,Prader-Willi syndrome,Point prevalence,Value and class,1-9 / 100 000,1.3,Belgium
739,Prader-Willi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.4,United Kingdom
739,Prader-Willi syndrome,Point prevalence,Value and class,1-9 / 100 000,1.9,United Kingdom
739,Prader-Willi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,6.6,Japan
739,Prader-Willi syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Japan
739,Prader-Willi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Australia
739,Prader-Willi syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Australia
739,Prader-Willi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,6.2,United States
739,Prader-Willi syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,United States
739,Prader-Willi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.76,France
739,Prader-Willi syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.229,China
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.22,Worldwide
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.18,France
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.21,Italy
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.08,United Kingdom
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.06,Spain
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.03,Germany
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.09,Poland
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Croatia
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.16,Hungary
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.25,North Macedonia
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Slovenia
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.09,Serbia
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.04,Ukraine
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.06,Belarus
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.03,Romania
47,X-linked agammaglobulinemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.26,United States
47,X-linked agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.07,United States
47,X-linked agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.11,"Korea, Republic of"
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.31,Sweden
580,Mucopolysaccharidosis type 2,Point prevalence,Value and class,1-9 / 100 000,9.1,Denmark
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.43,Czech Republic
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.71,Ireland
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 100 000,1.07,"Taiwan, Province of China"
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.74,Australia
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 100 000,2.16,Estonia
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Canada
580,Mucopolysaccharidosis type 2,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 100 000,1.09,Portugal
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.64,Germany
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 100 000,1.21,Italy
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Netherlands
580,Mucopolysaccharidosis type 2,Point prevalence,Value and class,1-9 / 100 000,6.5,Sweden
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.13,Norway
580,Mucopolysaccharidosis type 2,Point prevalence,Value and class,1-9 / 100 000,4.4,Norway
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.27,Denmark
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.68,Worldwide
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.46,Poland
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.84,Japan
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.46,Switzerland
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.74,"Korea, Republic of"
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.29,Tunisia
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.26,United States
580,Mucopolysaccharidosis type 2,Prevalence at birth,Value and class,1-9 / 1 000 000,0.37,Brazil
580,Mucopolysaccharidosis type 2,Point prevalence,Value and class,<1 / 1 000 000,0.07,United States
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.69,Germany
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.33,Portugal
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.19,Netherlands
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Sweden
579,Mucopolysaccharidosis type 1,Point prevalence,Value and class,1-9 / 100 000,8.7,Sweden
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.85,Norway
579,Mucopolysaccharidosis type 1,Point prevalence,Value and class,1-5 / 10 000,31.0,Norway
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.54,Denmark
579,Mucopolysaccharidosis type 1,Point prevalence,Value and class,1-9 / 100 000,7.4,Denmark
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,3.8,Ireland
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.07,United Kingdom
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.63,Tunisia
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.11,"Taiwan, Province of China"
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.58,Canada
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.14,Australia
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.72,Czech Republic
579,Mucopolysaccharidosis type 1,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.82,Worldwide
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.22,Poland
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.23,Japan
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.19,Switzerland
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,3.62,Saudi Arabia
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.21,"Korea, Republic of"
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.24,Brazil
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,United States
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Israel
579,Mucopolysaccharidosis type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Specific population
905,Wilson disease,Prevalence at birth,Value and class,1-9 / 100 000,2.25,Worldwide
905,Wilson disease,Point prevalence,Value and class,1-9 / 100 000,6.0,Europe
905,Wilson disease,Point prevalence,Value and class,1-9 / 100 000,2.02,Worldwide
905,Wilson disease,Point prevalence,Value and class,1-9 / 100 000,1.5,France
905,Wilson disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.94,Italy
905,Wilson disease,Prevalence at birth,Value and class,1-5 / 10 000,3.0,Japan
905,Wilson disease,Point prevalence,Value and class,1-5 / 10 000,10.0,China
905,Wilson disease,Prevalence at birth,Value and class,1-5 / 10 000,13.5,Specific population
905,Wilson disease,Point prevalence,Value and class,1-5 / 10 000,37.04,Specific population
905,Wilson disease,Prevalence at birth,Value and class,1-9 / 100 000,1.37,Ireland
905,Wilson disease,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Germany
905,Wilson disease,Annual incidence,Value and class,1-9 / 1 000 000,0.016,Finland
905,Wilson disease,Point prevalence,Value and class,1-9 / 1 000 000,0.45,Finland
792,X-linked retinoschisis,Point prevalence,Value and class,1-9 / 100 000,5.0,Denmark
792,X-linked retinoschisis,Point prevalence,Value and class,1-9 / 100 000,5.0,Netherlands
792,X-linked retinoschisis,Point prevalence,Value and class,1-9 / 100 000,5.0,Worldwide
792,X-linked retinoschisis,Point prevalence,Value and class,1-9 / 100 000,3.6,France
792,X-linked retinoschisis,Point prevalence,Value and class,1-9 / 100 000,4.5,Europe
163525,Subacute cutaneous lupus erythematosus,Annual incidence,Value and class,1-9 / 1 000 000,0.63,United States
163525,Subacute cutaneous lupus erythematosus,Point prevalence,Value and class,1-9 / 100 000,1.4805,United States
827,Stargardt disease,Point prevalence,Value and class,1-5 / 10 000,13.0,Europe
906,Wiskott-Aldrich syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
906,Wiskott-Aldrich syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.18,France
906,Wiskott-Aldrich syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Switzerland
906,Wiskott-Aldrich syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.55,Norway
906,Wiskott-Aldrich syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.07,Australia
906,Wiskott-Aldrich syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.03,"Korea, Republic of"
906,Wiskott-Aldrich syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,United States
906,Wiskott-Aldrich syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.0278,China
904,Williams syndrome,Prevalence at birth,Value and class,1-5 / 10 000,13.3,Norway
904,Williams syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.2,Hong Kong
904,Williams syndrome,Point prevalence,Value and class,1-5 / 10 000,13.3,Norway
904,Williams syndrome,Point prevalence,Value and class,1-9 / 100 000,4.2,Hong Kong
280,Wolf-Hirschhorn syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
280,Wolf-Hirschhorn syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.73,Worldwide
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.62,Europe
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,5.645,France
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.7,Italy
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.195,Sweden
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,2.6466,Spain
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,2.37,Denmark
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Latin America
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.8,Australia
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.63,Switzerland
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.7877,United Kingdom
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.0,Ukraine
15,Achondroplasia,Prevalence at birth,Value and class,6-9 / 10 000,79.05,Iraq
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,36.73,"Iran, Islamic Republic of"
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,12.92,Kuwait
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,25.87,Lebanon
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,48.14,Saudi Arabia
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,10.51,United Arab Emirates
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,16.53,Cameroon
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.0,North America
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.42,Cuba
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.75,Mexico
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.75,Argentina
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,14.25,Venezuela
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.76,Germany
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.35,Malta
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.01,Netherlands
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,2.39,Norway
15,Achondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.47,Poland
15,Achondroplasia,Prevalence at birth,Value and class,1-5 / 10 000,18.11,Nigeria
15,Achondroplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
96,Ataxia with vitamin E deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.33,Europe
101,Dentatorubral pallidoluysian atrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.48,Japan
101,Dentatorubral pallidoluysian atrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.71,United Kingdom
101,Dentatorubral pallidoluysian atrophy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
783,Rubinstein-Taybi syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.9,Netherlands
783,Rubinstein-Taybi syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Netherlands
783,Rubinstein-Taybi syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
783,Rubinstein-Taybi syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
163649,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
163649,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631,Non-acquired isolated growth hormone deficiency,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
276,T-B+ severe combined immunodeficiency due to gamma chain deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
163654,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,Cases/families,Case(s),,4.0,Worldwide
163654,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
481,Kennedy disease,Annual incidence,Value and class,<1 / 1 000 000,0.09,Italy
481,Kennedy disease,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Italy
481,Kennedy disease,Point prevalence,Class only,1-9 / 100 000,0.0,Italy
481,Kennedy disease,Point prevalence,Value and class,1-9 / 100 000,7.6,Finland
481,Kennedy disease,Point prevalence,Value and class,1-9 / 100 000,3.8,Europe
664,Ornithine transcarbamylase deficiency,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
664,Ornithine transcarbamylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Italy
664,Ornithine transcarbamylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.29,Australia
664,Ornithine transcarbamylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Finland
664,Ornithine transcarbamylase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.88,Canada
664,Ornithine transcarbamylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.77,United States
664,Ornithine transcarbamylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.77,Worldwide
163668,"Spondyloepiphyseal dysplasia, MacDermot type",Cases/families,Case(s),,4.0,Worldwide
163668,"Spondyloepiphyseal dysplasia, MacDermot type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163662,"Spondyloepiphyseal dysplasia, Reardon type",Cases/families,Family(ies),,1.0,Worldwide
163662,"Spondyloepiphyseal dysplasia, Reardon type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Worldwide
394,Homocystinuria due to cystathionine beta-synthase deficiency,Point prevalence,Value and class,1-9 / 100 000,1.65,Europe
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Ireland
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.77,Germany
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,15.6,Norway
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Denmark
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Australia
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,55.5,Qatar
394,Homocystinuria due to cystathionine beta-synthase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.11,Japan
163665,"Spondyloepiphyseal dysplasia tarda, Kohn type",Cases/families,Case(s),,3.0,Worldwide
163665,"Spondyloepiphyseal dysplasia tarda, Kohn type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508,Donohue syndrome,Point prevalence,Value and class,<1 / 1 000 000,6.0E-4,Worldwide
508,Donohue syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
508,Donohue syndrome,Prevalence at birth,Class only,<1 / 1 000 000,0.0,Europe
436,Hypophosphatasia,Point prevalence,Class only,Unknown,0.0,Worldwide
436,Hypophosphatasia,Point prevalence,Value and class,<1 / 1 000 000,0.0208,China
163596,Hemoglobin Bart's fetalis syndrome,Prevalence at birth,Value and class,>1 / 1000,275.0,South East Asia
163596,Hemoglobin Bart's fetalis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
163596,Hemoglobin Bart's fetalis syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.6,United States
429,Hypochondroplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.0303,Worldwide
429,Hypochondroplasia,Point prevalence,Value and class,1-9 / 100 000,3.0303,Worldwide
437,Hypophosphatemic rickets,Point prevalence,Class only,Unknown,0.0,Worldwide
104,Leber hereditary optic neuropathy,Point prevalence,Value and class,1-9 / 100 000,2.6,Netherlands
104,Leber hereditary optic neuropathy,Point prevalence,Value and class,1-9 / 100 000,4.3,Worldwide
104,Leber hereditary optic neuropathy,Point prevalence,Value and class,1-9 / 100 000,2.3,Europe
104,Leber hereditary optic neuropathy,Point prevalence,Value and class,1-9 / 100 000,3.22,United Kingdom
104,Leber hereditary optic neuropathy,Point prevalence,Value and class,1-9 / 100 000,2.0,Finland
104,Leber hereditary optic neuropathy,Point prevalence,Value and class,1-9 / 100 000,1.85,Denmark
104,Leber hereditary optic neuropathy,Point prevalence,Value and class,1-9 / 100 000,1.9743,Japan
2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Worldwide
2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,Point prevalence,Value and class,1-9 / 100 000,1.7,Worldwide
163634,Maffucci syndrome,Cases/families,Case(s),,250.0,Worldwide
163634,Maffucci syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163717,Familial mesial temporal lobe epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
163708,Cryptogenic late-onset epileptic spasms,Point prevalence,Class only,Unknown,0.0,Worldwide
636,Neurofibromatosis type 1,Point prevalence,Value and class,1-5 / 10 000,21.0,United Kingdom
636,Neurofibromatosis type 1,Point prevalence,Value and class,1-5 / 10 000,24.46,Finland
636,Neurofibromatosis type 1,Point prevalence,Value and class,1-5 / 10 000,47.5,New Zealand
636,Neurofibromatosis type 1,Point prevalence,Value and class,1-5 / 10 000,21.3,Europe
636,Neurofibromatosis type 1,Prevalence at birth,Value and class,1-5 / 10 000,36.65,United States
636,Neurofibromatosis type 1,Prevalence at birth,Value and class,1-5 / 10 000,36.9,United Kingdom
636,Neurofibromatosis type 1,Prevalence at birth,Value and class,1-5 / 10 000,33.3,Worldwide
636,Neurofibromatosis type 1,Prevalence at birth,Value and class,1-5 / 10 000,50.0,Finland
636,Neurofibromatosis type 1,Point prevalence,Value and class,1-9 / 100 000,6.7,Canada
636,Neurofibromatosis type 1,Point prevalence,Value and class,1-5 / 10 000,20.0,Sweden
163703,Febrile infection-related epilepsy syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Germany
163703,Febrile infection-related epilepsy syndrome,Point prevalence,Class only,Unknown,0.0,Germany
649,Norrie disease,Cases/families,Case(s),,400.0,Worldwide
649,Norrie disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163727,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Cases/families,Family(ies),,1.0,Worldwide
163727,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163721,Rolandic epilepsy-speech dyspraxia syndrome,Cases/families,Case(s),,277.0,Worldwide
163721,Rolandic epilepsy-speech dyspraxia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,Cases/families,Case(s),,2.0,Worldwide
163681,CNTNAP2-related developmental and epileptic encephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
163681,CNTNAP2-related developmental and epileptic encephalopathy,Cases/families,Case(s),,28.0,Worldwide
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.46,Worldwide
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,United States
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,United States
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,United Kingdom
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,United Kingdom
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.57,France
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,France
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.22,Sweden
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Sweden
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Italy
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Italy
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Denmark
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Denmark
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.48,Netherlands
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Netherlands
379,Chronic granulomatous disease,Point prevalence,Value and class,<1 / 1 000 000,0.08,Australia
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.35,Japan
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Japan
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,"Korea, Republic of"
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,"Korea, Republic of"
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.99,Latin America
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Latin America
379,Chronic granulomatous disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.53,Israel
379,Chronic granulomatous disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Israel
16,Blue cone monochromatism,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
16,Blue cone monochromatism,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
644,NARP syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
637,Full NF2-related schwannomatosis,Point prevalence,Value and class,1-9 / 100 000,1.7,Europe
637,Full NF2-related schwannomatosis,Prevalence at birth,Value and class,1-9 / 100 000,3.0,United Kingdom
637,Full NF2-related schwannomatosis,Point prevalence,Value and class,1-9 / 100 000,1.78,United Kingdom
637,Full NF2-related schwannomatosis,Prevalence at birth,Value and class,1-9 / 100 000,2.56,Finland
163696,Action myoclonus-renal failure syndrome,Cases/families,Case(s),,38.0,Worldwide
163696,Action myoclonus-renal failure syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
181,X-linked hypohidrotic ectodermal dysplasia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Europe
181,X-linked hypohidrotic ectodermal dysplasia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
181,X-linked hypohidrotic ectodermal dysplasia,Point prevalence,Value and class,1-5 / 10 000,12.7,Denmark
163693,2p21 microdeletion syndrome,Cases/families,Case(s),,7.0,Worldwide
163693,2p21 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163690,Hypotonia-cystinuria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
163690,Hypotonia-cystinuria syndrome,Cases/families,Case(s),,22.0,Worldwide
337,Fibrodysplasia ossificans progressiva,Point prevalence,Value and class,<1 / 1 000 000,0.05,Worldwide
337,Fibrodysplasia ossificans progressiva,Point prevalence,Value and class,<1 / 1 000 000,0.061,United Kingdom
337,Fibrodysplasia ossificans progressiva,Prevalence at birth,Value and class,<1 / 1 000 000,0.087,Spain
337,Fibrodysplasia ossificans progressiva,Point prevalence,Value and class,<1 / 1 000 000,0.036,Spain
337,Fibrodysplasia ossificans progressiva,Point prevalence,Value and class,<1 / 1 000 000,0.078,Europe
337,Fibrodysplasia ossificans progressiva,Point prevalence,Value and class,1-9 / 1 000 000,0.136,France
337,Fibrodysplasia ossificans progressiva,Point prevalence,Value and class,<1 / 1 000 000,0.085,United States
377,Gorlin syndrome,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
377,Gorlin syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.3,United Kingdom
377,Gorlin syndrome,Point prevalence,Value and class,1-9 / 100 000,3.2,United Kingdom
377,Gorlin syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.39,Italy
377,Gorlin syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.61,Australia
377,Gorlin syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.007,"Korea, Republic of"
377,Gorlin syndrome,Point prevalence,Value and class,1-9 / 100 000,1.1,Worldwide
648,Noonan syndrome,Prevalence at birth,Value and class,6-9 / 10 000,70.0,United States
648,Noonan syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
281,Monosomy 5p syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.0,Japan
281,Monosomy 5p syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.22,Denmark
281,Monosomy 5p syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
752,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",Prevalence at birth,Value and class,1-9 / 1 000 000,0.68,Netherlands
752,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",Point prevalence,Value and class,1-9 / 1 000 000,0.68,Netherlands
214,Cystinuria,Prevalence at birth,Value and class,1-5 / 10 000,50.0,United Kingdom
214,Cystinuria,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Canada
214,Cystinuria,Prevalence at birth,Value and class,1-9 / 100 000,5.5,Japan
214,Cystinuria,Point prevalence,Value and class,1-5 / 10 000,40.0,Specific population
214,Cystinuria,Point prevalence,Value and class,1-5 / 10 000,14.0,Worldwide
214,Cystinuria,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Sweden
214,Cystinuria,Prevalence at birth,Value and class,1-5 / 10 000,25.0,Australia
214,Cystinuria,Prevalence at birth,Value and class,1-9 / 100 000,5.9,United States
214,Cystinuria,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
510,Lesch-Nyhan syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.43,Italy
510,Lesch-Nyhan syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,Europe
510,Lesch-Nyhan syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.42,Spain
510,Lesch-Nyhan syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Spain
510,Lesch-Nyhan syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.18,Canada
510,Lesch-Nyhan syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Canada
510,Lesch-Nyhan syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Italy
510,Lesch-Nyhan syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.18,United Kingdom
510,Lesch-Nyhan syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,United Kingdom
510,Lesch-Nyhan syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
524,Li-Fraumeni syndrome,Point prevalence,Value and class,1-9 / 100 000,7.0,United Kingdom
524,Li-Fraumeni syndrome,Point prevalence,Value and class,1-9 / 100 000,5.0,United States
524,Li-Fraumeni syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
699,Pearson syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.004,Worldwide
699,Pearson syndrome,Cases/families,Case(s),,194.0,Worldwide
640,Hereditary neuropathy with liability to pressure palsies,Point prevalence,Value and class,1-9 / 100 000,3.5,Europe
640,Hereditary neuropathy with liability to pressure palsies,Point prevalence,Value and class,1-5 / 10 000,16.0,Finland
60,Alpha-1-antitrypsin deficiency,Point prevalence,Value and class,1-5 / 10 000,47.5,Ireland
60,Alpha-1-antitrypsin deficiency,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
60,Alpha-1-antitrypsin deficiency,Point prevalence,Value and class,1-5 / 10 000,25.0,Germany
60,Alpha-1-antitrypsin deficiency,Prevalence at birth,Value and class,1-5 / 10 000,17.0,United States
60,Alpha-1-antitrypsin deficiency,Point prevalence,Value and class,1-5 / 10 000,33.0,Specific population
60,Alpha-1-antitrypsin deficiency,Prevalence at birth,Value and class,6-9 / 10 000,63.5,Sweden
895,Waardenburg syndrome type 2,Cases/families,Family(ies),,3.0,Worldwide
895,Waardenburg syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
896,Waardenburg syndrome type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
857,Townes-Brocks syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.42,Spain
857,Townes-Brocks syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
894,Waardenburg syndrome type 1,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
894,Waardenburg syndrome type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
682,Hyperkalemic periodic paralysis,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
682,Hyperkalemic periodic paralysis,Point prevalence,Value and class,1-9 / 1 000 000,0.17,United Kingdom
682,Hyperkalemic periodic paralysis,Point prevalence,Value and class,<1 / 1 000 000,0.06,Netherlands
800,Schwartz-Jampel syndrome,Cases/families,Case(s),,129.0,Worldwide
800,Schwartz-Jampel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
628,Diastrophic dysplasia,Point prevalence,Value and class,1-9 / 100 000,1.2,Europe
628,Diastrophic dysplasia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Europe
628,Diastrophic dysplasia,Point prevalence,Value and class,1-9 / 100 000,3.03,Finland
673,Malaria,Annual incidence,Value and class,6-9 / 10 000,73.0,Worldwide
673,Malaria,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
673,Malaria,Annual incidence,Value and class,1-5 / 10 000,12.0,France
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.2,Europe
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.62,Denmark
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.75,Iceland
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.8,Austria
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,2.1,Belgium
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Bulgaria
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Croatia
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.52,Cyprus
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Czech Republic
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Estonia
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.74,Finland
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.68,Greece
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Hungary
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.7,Ireland
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Latvia
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Lithuania
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.84,Luxembourg
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.54,Malta
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.84,Netherlands
673,Malaria,Annual incidence,Value and class,<1 / 1 000 000,0.08,Poland
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.44,Portugal
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Romania
673,Malaria,Annual incidence,Value and class,<1 / 1 000 000,0.06,Slovakia
673,Malaria,Annual incidence,Value and class,1-9 / 1 000 000,0.28,Slovenia
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.5,Spain
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.88,Sweden
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,2.38,United Kingdom
673,Malaria,Annual incidence,Value and class,1-9 / 100 000,1.62,Norway
681,Hypokalemic periodic paralysis,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
681,Hypokalemic periodic paralysis,Point prevalence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
681,Hypokalemic periodic paralysis,Point prevalence,Value and class,1-9 / 1 000 000,0.53,Netherlands
126,Blepharophimosis-ptosis-epicanthus inversus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
107,BOR syndrome,Point prevalence,Value and class,1-9 / 100 000,2.5,Canada
107,BOR syndrome,Point prevalence,Value and class,1-9 / 100 000,2.5,Worldwide
774,Hereditary hemorrhagic telangiectasia,Point prevalence,Value and class,1-5 / 10 000,16.0,Europe
774,Hereditary hemorrhagic telangiectasia,Point prevalence,Value and class,1-5 / 10 000,43.5,France
774,Hereditary hemorrhagic telangiectasia,Point prevalence,Value and class,1-9 / 100 000,2.5,United Kingdom
774,Hereditary hemorrhagic telangiectasia,Point prevalence,Value and class,1-5 / 10 000,15.6,Denmark
774,Hereditary hemorrhagic telangiectasia,Point prevalence,Value and class,1-5 / 10 000,16.25,Japan
774,Hereditary hemorrhagic telangiectasia,Point prevalence,Value and class,1-9 / 100 000,6.1,United States
774,Hereditary hemorrhagic telangiectasia,Point prevalence,Value and class,1-5 / 10 000,19.4,Specific population
794,Saethre-Chotzen syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Europe
794,Saethre-Chotzen syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
794,Saethre-Chotzen syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Australia
710,Pfeiffer syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
710,Pfeiffer syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
710,Pfeiffer syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Australia
2869,Peutz-Jeghers syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Worldwide
2869,Peutz-Jeghers syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Europe
2869,Peutz-Jeghers syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,Uruguay
893,WAGR syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Worldwide
893,WAGR syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
912,Zellweger syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
912,Zellweger syndrome,Point prevalence,Value and class,1-9 / 100 000,8.2,Specific population
912,Zellweger syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.6,Israel
912,Zellweger syndrome,Prevalence at birth,Value and class,1-9 / 100 000,8.2,Specific population
50,Aicardi syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.07,Netherlands
50,Aicardi syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.95,United States
50,Aicardi syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,United States
50,Aicardi syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Worldwide
53,Albers-Schönberg osteopetrosis,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
53,Albers-Schönberg osteopetrosis,Point prevalence,Value and class,1-9 / 100 000,5.5,Denmark
53,Albers-Schönberg osteopetrosis,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Brazil
53,Albers-Schönberg osteopetrosis,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
14,Abetalipoproteinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
14,Abetalipoproteinemia,Cases/families,Case(s),,100.0,Worldwide
52,Alagille syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Australia
52,Alagille syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Australia
52,Alagille syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Europe
52,Alagille syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.7,United States
52,Alagille syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
167,Chédiak-Higashi syndrome,Cases/families,Case(s),,500.0,Worldwide
167,Chédiak-Higashi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
195,Cat-eye syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.35,Europe
195,Cat-eye syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
207,Crouzon syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.9,Europe
207,Crouzon syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
207,Crouzon syndrome,Point prevalence,Value and class,1-9 / 100 000,1.65,Canada
207,Crouzon syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.6,Australia
205,Crigler-Najjar syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Europe
205,Crigler-Najjar syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
160148,Cap polyposis,Cases/families,Case(s),,67.0,Worldwide
160148,Cap polyposis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
201,Cowden syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.45,Netherlands
201,Cowden syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
192,Coffin-Lowry syndrome,Point prevalence,Value and class,1-9 / 100 000,1.5,Worldwide
192,Coffin-Lowry syndrome,Point prevalence,Value and class,1-9 / 100 000,1.5,Europe
2442,X-linked lymphoproliferative disease,Point prevalence,Value and class,<1 / 1 000 000,0.05,Europe
2442,X-linked lymphoproliferative disease,Point prevalence,Value and class,<1 / 1 000 000,0.0347,China
169802,Severe hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.8,Europe
562,McCune-Albright syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.55,Europe
565,Menkes disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.33,Europe
565,Menkes disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.28,Japan
565,Menkes disease,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Australia
565,Menkes disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2443,Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,Point prevalence,Value and class,1-9 / 100 000,9.0,Europe
474,Jeune syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Europe
474,Jeune syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.89,Australia
474,Jeune syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
540,Familial hemophagocytic lymphohistiocytosis,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Sweden
540,Familial hemophagocytic lymphohistiocytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
540,Familial hemophagocytic lymphohistiocytosis,Annual incidence,Value and class,1-9 / 1 000 000,0.104,China
568,"Microphthalmia, Lenz type",Point prevalence,Class only,Unknown,0.0,Worldwide
564,Meckel syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.3,France
564,Meckel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,France
564,Meckel syndrome,Prevalence at birth,Value and class,1-5 / 10 000,11.0,Finland
564,Meckel syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Worldwide
564,Meckel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
564,Meckel syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.6,Europe
289,Ellis Van Creveld syndrome,Prevalence at birth,Value and class,>1 / 1000,500.0,Specific population
289,Ellis Van Creveld syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
289,Ellis Van Creveld syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Worldwide
289,Ellis Van Creveld syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
258,Laminin subunit alpha 2-related congenital muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Eastern Mediterranean Asia
258,Laminin subunit alpha 2-related congenital muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
258,Laminin subunit alpha 2-related congenital muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Worldwide
258,Laminin subunit alpha 2-related congenital muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.6,United Kingdom
1247,Schistosomiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1247,Schistosomiasis,Point prevalence,Class only,>1 / 1000,0.0,Africa
112,Bartter syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
112,Bartter syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Sweden
112,Bartter syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Kuwait
112,Bartter syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1646,Chromosome Y microdeletion syndrome,Point prevalence,Value and class,1-5 / 10 000,20.8,Worldwide
1646,Chromosome Y microdeletion syndrome,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
169464,Primary CD59 deficiency,Cases/families,Case(s),,6.0,Worldwide
169464,Primary CD59 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99,Autosomal dominant cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,2.7,Worldwide
99,Autosomal dominant cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,3.0,Netherlands
99,Autosomal dominant cerebellar ataxia,Point prevalence,Value and class,1-9 / 1 000 000,0.9,Italy
99,Autosomal dominant cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,5.6,Portugal
99,Autosomal dominant cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,5.6,Europe
99,Autosomal dominant cerebellar ataxia,Point prevalence,Value and class,1-5 / 10 000,12.6,Japan
116,Beckwith-Wiedemann syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.5,Europe
116,Beckwith-Wiedemann syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Spain
116,Beckwith-Wiedemann syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.25,Japan
116,Beckwith-Wiedemann syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.4,Jamaica
116,Beckwith-Wiedemann syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Italy
116,Beckwith-Wiedemann syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
87,Apert syndrome,Point prevalence,Class only,Unknown,0.0,Europe
87,Apert syndrome,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
87,Apert syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
87,Apert syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Spain
87,Apert syndrome,Point prevalence,Value and class,1-9 / 100 000,1.1,Spain
87,Apert syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.2,United States
87,Apert syndrome,Point prevalence,Value and class,1-9 / 100 000,1.2,United States
87,Apert syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.47,Canada
87,Apert syndrome,Point prevalence,Value and class,1-9 / 100 000,1.47,Canada
87,Apert syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Australia
97,Familial paroxysmal ataxia,Point prevalence,Class only,1-9 / 1 000 000,0.0,United States
97,Familial paroxysmal ataxia,Point prevalence,Class only,Unknown,0.0,Worldwide
313,Lamellar ichthyosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
313,Lamellar ichthyosis,Point prevalence,Value and class,1-9 / 1 000 000,0.35,Spain
313,Lamellar ichthyosis,Point prevalence,Value and class,1-9 / 100 000,1.1,Norway
169799,Mild hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Europe
169796,Moderate hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Europe
169793,Severe hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Europe
1000,Ocular albinism with late-onset sensorineural deafness,Cases/families,Case(s),,9.0,Worldwide
1000,Ocular albinism with late-onset sensorineural deafness,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
999,Ermine phenotype,Cases/families,Case(s),,6.0,Worldwide
999,Ermine phenotype,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171430,Severe congenital nemaline myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
171433,Intermediate nemaline myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
171436,Typical nemaline myopathy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
171439,Childhood-onset nemaline myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
55,Oculocutaneous albinism,Point prevalence,Value and class,1-9 / 100 000,5.9,Worldwide
55,Oculocutaneous albinism,Prevalence at birth,Value and class,1-9 / 100 000,3.9,Denmark
55,Oculocutaneous albinism,Point prevalence,Value and class,1-5 / 10 000,45.0,South Africa
171442,Adult-onset nemaline myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
171607,X-linked spastic paraplegia type 34,Cases/families,Case(s),,24.0,Worldwide
171607,X-linked spastic paraplegia type 34,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2771,Bruck syndrome,Cases/families,Case(s),,60.0,Worldwide
2771,Bruck syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171612,Autosomal dominant spastic paraplegia type 37,Cases/families,Case(s),,13.0,Worldwide
171612,Autosomal dominant spastic paraplegia type 37,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171617,Autosomal dominant spastic paraplegia type 38,Cases/families,Family(ies),,1.0,Worldwide
171617,Autosomal dominant spastic paraplegia type 38,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1349,Mitochondrial DNA-related cardiomyopathy and hearing loss,Cases/families,Family(ies),,2.0,Worldwide
1349,Mitochondrial DNA-related cardiomyopathy and hearing loss,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171622,Autosomal recessive spastic paraplegia type 32,Cases/families,Family(ies),,1.0,Worldwide
171622,Autosomal recessive spastic paraplegia type 32,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171629,Autosomal recessive spastic paraplegia type 35,Cases/families,Case(s),,38.0,Worldwide
171629,Autosomal recessive spastic paraplegia type 35,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
861,Treacher-Collins syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.63,France
861,Treacher-Collins syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,France
861,Treacher-Collins syndrome,Prevalence at birth,Value and class,1-9 / 100 000,6.9,Japan
861,Treacher-Collins syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Japan
861,Treacher-Collins syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
861,Treacher-Collins syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
308,Progressive myoclonic epilepsy type 1,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Finland
308,Progressive myoclonic epilepsy type 1,Point prevalence,Value and class,1-9 / 100 000,2.0,Finland
1991,Cleft lip with or without cleft palate,Prevalence at birth,Class only,6-9 / 10 000,0.0,Worldwide
1991,Cleft lip with or without cleft palate,Prevalence at birth,Value and class,>1 / 1000,190.5,Japan
1991,Cleft lip with or without cleft palate,Prevalence at birth,Value and class,6-9 / 10 000,77.5,United States
199,Cornelia de Lange syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.24,Europe
199,Cornelia de Lange syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,France
199,Cornelia de Lange syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Denmark
2162,Holoprosencephaly,Prevalence at birth,Value and class,1-5 / 10 000,13.4,Europe
2162,Holoprosencephaly,Prevalence at birth,Value and class,1-9 / 100 000,5.5,United States
2162,Holoprosencephaly,Prevalence at birth,Value and class,1-5 / 10 000,21.6,Latin America
2162,Holoprosencephaly,Prevalence at birth,Value and class,1-5 / 10 000,15.0,United Kingdom
2162,Holoprosencephaly,Prevalence at birth,Value and class,6-9 / 10 000,60.6,"Taiwan, Province of China"
2162,Holoprosencephaly,Prevalence at birth,Value and class,>1 / 1000,502.0,Japan
2162,Holoprosencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
2162,Holoprosencephaly,Prevalence at birth,Value and class,1-5 / 10 000,10.9,Specific population
930,Idiopathic achalasia,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Europe
930,Idiopathic achalasia,Point prevalence,Value and class,1-9 / 100 000,8.0,Worldwide
930,Idiopathic achalasia,Point prevalence,Value and class,1-5 / 10 000,10.82,Canada
930,Idiopathic achalasia,Point prevalence,Value and class,1-9 / 100 000,6.29,"Korea, Republic of"
930,Idiopathic achalasia,Point prevalence,Value and class,1-5 / 10 000,13.5,Ireland
930,Idiopathic achalasia,Point prevalence,Value and class,1-9 / 100 000,8.7,Iceland
930,Idiopathic achalasia,Point prevalence,Value and class,1-9 / 100 000,1.8,Singapore
930,Idiopathic achalasia,Annual incidence,Value and class,1-9 / 100 000,1.59,Italy
930,Idiopathic achalasia,Annual incidence,Value and class,1-9 / 1 000 000,0.73,Iceland
930,Idiopathic achalasia,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Singapore
930,Idiopathic achalasia,Annual incidence,Value and class,1-9 / 1 000 000,0.39,"Korea, Republic of"
930,Idiopathic achalasia,Annual incidence,Value and class,1-9 / 100 000,1.63,Canada
930,Idiopathic achalasia,Annual incidence,Value and class,1-9 / 1 000 000,0.77,Worldwide
998,Albinism-deafness syndrome,Cases/families,Family(ies),,1.0,Worldwide
998,Albinism-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1727,22q11.2 duplication syndrome,Cases/families,Case(s),,216.0,Worldwide
1727,22q11.2 duplication syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
169079,Cernunnos-XLF deficiency,Cases/families,Case(s),,5.0,Worldwide
169079,Cernunnos-XLF deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1716,Distal duplication 18q syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Worldwide
1716,Distal duplication 18q syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1715,Trisomy 18p syndrome,Cases/families,Case(s),,25.0,Worldwide
1715,Trisomy 18p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,16.7,Worldwide
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Austria
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.4,Hungary
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,25.3,Ireland
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.1,Italy
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Netherlands
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,11.2,Norway
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,10.4,Europe
3380,Trisomy 18 syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.8,France
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,8.9,Belgium
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Germany
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,48.2,Malta
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.4,Poland
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.5,Portugal
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Spain
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,24.6,Switzerland
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,13.0,United Kingdom
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,6.5,Ukraine
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,14.6,Croatia
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,38.8,Denmark
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,18.0,Japan
3380,Trisomy 18 syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Japan
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,19.1,United States
3380,Trisomy 18 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Specific population
168984,CLAPO syndrome,Cases/families,Case(s),,6.0,Worldwide
168984,CLAPO syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168999,Malignant melanoma of the mucosa,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Europe
168999,Malignant melanoma of the mucosa,Point prevalence,Class only,Unknown,0.0,Europe
168999,Malignant melanoma of the mucosa,Lifetime Prevalence,Value and class,1-9 / 100 000,1.5,Europe
168999,Malignant melanoma of the mucosa,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Belgium
168999,Malignant melanoma of the mucosa,Annual incidence,Value and class,1-9 / 1 000 000,0.23,United States
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.7,Europe
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Belgium
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Germany
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.2,Ireland
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,24.1,Malta
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Norway
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Poland
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.0,United Kingdom
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Ukraine
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,18.0,Japan
3378,Trisomy 13 syndrome,Point prevalence,Value and class,1-5 / 10 000,15.9,Japan
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,12.6,United States
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.9,France
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Austria
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Hungary
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Italy
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Netherlands
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.2,Portugal
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Spain
3378,Trisomy 13 syndrome,Prevalence at birth,Value and class,1-5 / 10 000,13.2,Switzerland
3378,Trisomy 13 syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
169100,Immunodeficiency due to CD25 deficiency,Cases/families,Case(s),,2.0,Worldwide
169100,Immunodeficiency due to CD25 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
169105,Thymoma-hypogammaglobulinemia syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
169105,Thymoma-hypogammaglobulinemia syndrome,Cases/families,Case(s),,241.0,Worldwide
169090,Combined immunodeficiency due to CRAC channel dysfunction,Cases/families,Case(s),,10.0,Worldwide
169090,Combined immunodeficiency due to CRAC channel dysfunction,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
236,Trisomy 9p syndrome,Cases/families,Case(s),,150.0,Worldwide
236,Trisomy 9p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
169095,Severe combined immunodeficiency due to FOXN1 deficiency,Cases/families,Case(s),,9.0,Worldwide
169095,Severe combined immunodeficiency due to FOXN1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
169085,Susceptibility to respiratory infections associated with CD8alpha chain mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
168829,Primary peritoneal carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
168816,Peritoneal inclusion cyst,Cases/families,Case(s),,150.0,Worldwide
168816,Peritoneal inclusion cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
753,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency",Point prevalence,Class only,Unknown,0.0,Worldwide
868,Triose phosphate-isomerase deficiency,Cases/families,Case(s),,50.0,Worldwide
868,Triose phosphate-isomerase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168811,Malignant peritoneal mesothelioma,Annual incidence,Value and class,1-9 / 1 000 000,0.2,France
168811,Malignant peritoneal mesothelioma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
168811,Malignant peritoneal mesothelioma,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Italy
218,Darier disease,Point prevalence,Value and class,1-9 / 100 000,3.0,United Kingdom
218,Darier disease,Point prevalence,Value and class,1-9 / 100 000,1.0,Denmark
218,Darier disease,Point prevalence,Value and class,1-9 / 100 000,3.8,Slovenia
218,Darier disease,Point prevalence,Value and class,1-9 / 100 000,3.4,Europe
218,Darier disease,Annual incidence,Value and class,1-9 / 1 000 000,0.31,Singapore
168796,"Heart-hand syndrome, Slovenian type",Cases/families,Case(s),,14.0,Worldwide
168796,"Heart-hand syndrome, Slovenian type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1465,Coffin-Siris syndrome,Cases/families,Case(s),,190.0,Worldwide
1465,Coffin-Siris syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168782,Childhood disintegrative disorder,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
1642,Distal deletion 9p syndrome,Cases/families,Case(s),,89.0,Worldwide
1642,Distal deletion 9p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168966,Composite lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
168960,Refractory anemia with excess blasts in transformation,Annual incidence,Value and class,<1 / 1 000 000,0.04,Europe
8,"47,XYY syndrome",Point prevalence,Class only,1-5 / 10 000,0.0,Denmark
8,"47,XYY syndrome",Prevalence at birth,Value and class,1-5 / 10 000,50.0,Europe
8,"47,XYY syndrome",Prevalence at birth,Value and class,1-5 / 10 000,14.1,Denmark
8,"47,XYY syndrome",Point prevalence,Class only,1-5 / 10 000,0.0,Europe
1636,Distal monosomy 7q36 syndrome,Cases/families,Case(s),,30.0,Worldwide
1636,Distal monosomy 7q36 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168956,Hypereosinophilic syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.027,United States
168956,Hypereosinophilic syndrome,Point prevalence,Class only,Unknown,0.0,Europe
168956,Hypereosinophilic syndrome,Point prevalence,Value and class,1-9 / 100 000,3.3,United States
168956,Hypereosinophilic syndrome,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
1600,Monosomy 18q syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Worldwide
1600,Monosomy 18q syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1598,Monosomy 18p syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
1598,Monosomy 18p syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
2773,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
2773,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2772,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,Cases/families,Case(s),,3.0,Worldwide
2772,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2609,Isolated complex I deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
626,Large/giant congenital melanocytic nevus,Point prevalence,Value and class,1-9 / 100 000,2.75,Europe
773,Adult Refsum disease,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
773,Adult Refsum disease,Cases/families,Case(s),,60.0,Worldwide
11,Pentasomy X syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
169154,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.15,Worldwide
169154,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
169154,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,Prevalence at birth,Value and class,<1 / 1 000 000,0.04,Chile
370,Glycogen storage disease due to phosphorylase kinase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
370,Glycogen storage disease due to phosphorylase kinase deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
370,Glycogen storage disease due to phosphorylase kinase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Israel
370,Glycogen storage disease due to phosphorylase kinase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Specific population
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,Prevalence at birth,Class only,Unknown,0.0,Worldwide
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,Point prevalence,Class only,Unknown,0.0,Worldwide
385,Neurodegeneration with brain iron accumulation,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,Cases/families,Case(s),,3.0,Worldwide
1947,Northern epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
352,Galactosemia,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
352,Galactosemia,Annual incidence,Value and class,1-9 / 100 000,2.1,Europe
352,Galactosemia,Prevalence at birth,Value and class,1-9 / 100 000,1.3,United States
352,Galactosemia,Point prevalence,Class only,Unknown,0.0,Worldwide
596,X-linked centronuclear myopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.0,France
596,X-linked centronuclear myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
596,X-linked centronuclear myopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
610,Bethlem muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.77,United Kingdom
610,Bethlem muscular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
169186,Autosomal recessive centronuclear myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
464,Incontinentia pigmenti,Prevalence at birth,Value and class,1-9 / 1 000 000,0.62,United States
464,Incontinentia pigmenti,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Europe
464,Incontinentia pigmenti,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
3307,Tetrasomy 18p syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
169189,Autosomal dominant centronuclear myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
44,Neonatal adrenoleukodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Italy
44,Neonatal adrenoleukodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
56,Alkaptonuria,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
56,Alkaptonuria,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
56,Alkaptonuria,Prevalence at birth,Value and class,1-9 / 1 000 000,0.15,France
56,Alkaptonuria,Point prevalence,Class only,1-9 / 1 000 000,0.0,France
56,Alkaptonuria,Prevalence at birth,Value and class,1-9 / 1 000 000,0.25,United States
56,Alkaptonuria,Point prevalence,Class only,1-9 / 1 000 000,0.0,United States
56,Alkaptonuria,Prevalence at birth,Value and class,1-9 / 100 000,5.3,Slovakia
56,Alkaptonuria,Point prevalence,Class only,1-9 / 100 000,0.0,Slovakia
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.47,Worldwide
963,Acromegaly,Point prevalence,Value and class,1-9 / 100 000,3.6,Spain
963,Acromegaly,Point prevalence,Value and class,1-9 / 100 000,9.7,Italy
963,Acromegaly,Point prevalence,Value and class,1-9 / 100 000,8.6,United Kingdom
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.19,Belgium
963,Acromegaly,Point prevalence,Value and class,1-5 / 10 000,12.0,Belgium
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Ireland
963,Acromegaly,Point prevalence,Value and class,1-9 / 100 000,6.3,Ireland
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.34,Finland
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.39,"Korea, Republic of"
963,Acromegaly,Point prevalence,Value and class,1-9 / 100 000,2.79,"Korea, Republic of"
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.77,Iceland
963,Acromegaly,Point prevalence,Value and class,1-5 / 10 000,13.4,Iceland
963,Acromegaly,Point prevalence,Value and class,1-9 / 100 000,7.8,United States
963,Acromegaly,Annual incidence,Value and class,1-9 / 100 000,1.1,United States
963,Acromegaly,Point prevalence,Value and class,1-9 / 100 000,8.5,Denmark
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.31,Malta
963,Acromegaly,Point prevalence,Value and class,1-5 / 10 000,12.5,Malta
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Sweden
963,Acromegaly,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Denmark
963,Acromegaly,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
1059,Blue rubber bleb nevus,Cases/families,Case(s),,200.0,Worldwide
1059,Blue rubber bleb nevus,Point prevalence,Value and class,1-9 / 100 000,7.0,Worldwide
1006,Alopecia antibody deficiency,Cases/families,Case(s),,3.0,Worldwide
1006,Alopecia antibody deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1046,Lethal hemolytic anemia-genital anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
1046,Lethal hemolytic anemia-genital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
22,Succinic semialdehyde dehydrogenase deficiency,Cases/families,Case(s),,450.0,Worldwide
22,Succinic semialdehyde dehydrogenase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Worldwide
29,Mevalonic aciduria,Cases/families,Case(s),,30.0,Worldwide
29,Mevalonic aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
245,Nager syndrome,Cases/families,Case(s),,100.0,Worldwide
245,Nager syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
245,Nager syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Finland
30,Hereditary orotic aciduria,Cases/families,Case(s),,20.0,Worldwide
30,Hereditary orotic aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
36,Acrocallosal syndrome,Cases/families,Case(s),,38.0,Worldwide
36,Acrocallosal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
915,Aarskog-Scott syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
915,Aarskog-Scott syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2614,Nail-patella syndrome,Point prevalence,Value and class,1-9 / 100 000,2.2,United Kingdom
2614,Nail-patella syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
2614,Nail-patella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
2614,Nail-patella syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Australia
33,Isovaleric acidemia,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
33,Isovaleric acidemia,Prevalence at birth,Value and class,1-9 / 100 000,1.55,Germany
33,Isovaleric acidemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.28,Australia
33,Isovaleric acidemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.63,Italy
33,Isovaleric acidemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.53,United States
819,Smith-Magenis syndrome,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
819,Smith-Magenis syndrome,Point prevalence,Value and class,1-9 / 100 000,4.0,Worldwide
819,Smith-Magenis syndrome,Point prevalence,Value and class,1-9 / 100 000,5.35,Europe
819,Smith-Magenis syndrome,Prevalence at birth,Class only,1-9 / 100 000,0.0,United States
819,Smith-Magenis syndrome,Point prevalence,Value and class,1-9 / 100 000,5.35,United States
3085,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,Cases/families,Family(ies),,2.0,Worldwide
3085,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
9,Tetrasomy X syndrome,Cases/families,Case(s),,50.0,Worldwide
9,Tetrasomy X syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168615,Hereditary persistence of alpha-fetoprotein,Cases/families,Family(ies),,19.0,Worldwide
168615,Hereditary persistence of alpha-fetoprotein,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168612,Congenital deficiency in alpha-fetoprotein,Cases/families,Case(s),,22.0,Worldwide
168612,Congenital deficiency in alpha-fetoprotein,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1442,Ring chromosome 18 syndrome,Cases/families,Case(s),,70.0,Worldwide
1442,Ring chromosome 18 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168621,"Dysplasia of head of femur, Meyer type",Point prevalence,Class only,Unknown,0.0,Worldwide
1452,Cleidocranial dysplasia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Worldwide
1452,Cleidocranial dysplasia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
1452,Cleidocranial dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,1.2,United States
193,Cohen syndrome,Cases/families,Case(s),,200.0,Worldwide
193,Cohen syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
168624,"Familial scaphocephaly syndrome, McGillivray type",Cases/families,Case(s),,11.0,Worldwide
168624,"Familial scaphocephaly syndrome, McGillivray type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1488,Cooper-Jabs syndrome,Cases/families,Case(s),,2.0,Worldwide
1488,Cooper-Jabs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
200,Isolated corpus callosum agenesis,Point prevalence,Class only,Unknown,0.0,United States
200,Isolated corpus callosum agenesis,Point prevalence,Class only,Unknown,0.0,Hungary
200,Isolated corpus callosum agenesis,Prevalence at birth,Value and class,1-9 / 100 000,1.37,United States
200,Isolated corpus callosum agenesis,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Hungary
1334,Chronic mucocutaneous candidiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
168583,Hereditary North American Indian childhood cirrhosis,Cases/families,Case(s),,36.0,Worldwide
168583,Hereditary North American Indian childhood cirrhosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,Cases/families,Case(s),,40.0,Worldwide
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168577,Hereditary cryohydrocytosis with reduced stomatin,Cases/families,Case(s),,3.0,Worldwide
168577,Hereditary cryohydrocytosis with reduced stomatin,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168593,Sudden infant death-dysgenesis of the testes syndrome,Cases/families,Case(s),,21.0,Worldwide
168593,Sudden infant death-dysgenesis of the testes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1406,Charlie M syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1406,Charlie M syndrome,Cases/families,Case(s),,4.0,Worldwide
168588,Hyperandrogenism due to cortisone reductase deficiency,Cases/families,Case(s),,11.0,Worldwide
168588,Hyperandrogenism due to cortisone reductase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1414,Cholestasis-lymphedema syndrome,Cases/families,Case(s),,47.0,Worldwide
1414,Cholestasis-lymphedema syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168598,Methionine adenosyltransferase I/III deficiency,Cases/families,Case(s),,2.0,Worldwide
168598,Methionine adenosyltransferase I/III deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168606,Seborrhea-like dermatitis with psoriasiform elements,Cases/families,Case(s),,44.0,Worldwide
168606,Seborrhea-like dermatitis with psoriasiform elements,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168549,Axial spondylometaphyseal dysplasia,Cases/families,Case(s),,13.0,Worldwide
168549,Axial spondylometaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168552,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
168552,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
168555,"Spondylometaphyseal dysplasia, A4 type",Cases/families,Case(s),,3.0,Worldwide
168555,"Spondylometaphyseal dysplasia, A4 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168558,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency",Cases/families,Case(s),,9.0,Worldwide
168558,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",Cases/families,Case(s),,5.0,Worldwide
168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
124,Diamond-Blackfan anemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Europe
124,Diamond-Blackfan anemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,United Kingdom
124,Diamond-Blackfan anemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,Italy
124,Diamond-Blackfan anemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,United States
124,Diamond-Blackfan anemia,Point prevalence,Class only,Unknown,0.0,Worldwide
124,Diamond-Blackfan anemia,Point prevalence,Value and class,1-9 / 1 000 000,0.194,China
168566,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,Cases/families,Case(s),,7.0,Worldwide
168566,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1310,Caffey disease,Point prevalence,Class only,Unknown,0.0,Worldwide
1310,Caffey disease,Cases/families,Case(s),,100.0,Worldwide
168569,H syndrome,Cases/families,Case(s),,100.0,Worldwide
168569,H syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168572,Native American myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
125,Bloom syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.08,Specific population
125,Bloom syndrome,Cases/families,Case(s),,300.0,Worldwide
125,Bloom syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90,Argininemia,Prevalence at birth,Value and class,<1 / 1 000 000,0.04,Finland
90,Argininemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.27,United States
90,Argininemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
168443,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,Cases/families,Case(s),,5.0,Worldwide
168443,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,Cases/families,Family(ies),,22.0,Worldwide
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168451,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,Cases/families,Case(s),,2.0,Worldwide
168451,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168454,"Spondyloepimetaphyseal dysplasia, Geneviève type",Cases/families,Family(ies),,6.0,Worldwide
168454,"Spondyloepimetaphyseal dysplasia, Geneviève type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1146,Distal arthrogryposis type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
1143,Neurogenic arthrogryposis multiplex congenita,Prevalence at birth,Value and class,1-9 / 100 000,4.3,Europe
1143,Neurogenic arthrogryposis multiplex congenita,Point prevalence,Class only,Unknown,0.0,Europe
168544,"Spondylometaphyseal dysplasia, Golden type",Cases/families,Case(s),,3.0,Worldwide
168544,"Spondylometaphyseal dysplasia, Golden type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1147,Sheldon-Hall syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
246,Postaxial acrofacial dysostosis,Cases/families,Case(s),,30.0,Worldwide
246,Postaxial acrofacial dysostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1770,XY type gonadal dysgenesis-associated anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
1770,XY type gonadal dysgenesis-associated anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1775,Dyskeratosis congenita,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
1764,Familial dysautonomia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1764,Familial dysautonomia,Prevalence at birth,Value and class,1-5 / 10 000,18.5,Specific population
235,Dubowitz syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
235,Dubowitz syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
239,Dyggve-Melchior-Clausen disease,Cases/families,Case(s),,100.0,Worldwide
239,Dyggve-Melchior-Clausen disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1672,Diencephalic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
833,Encephalopathy due to sulfite oxidase deficiency,Cases/families,Case(s),,100.0,Worldwide
833,Encephalopathy due to sulfite oxidase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
167714,Unclassified acute myeloid leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.49,Europe
167635,Scleromyxedema,Cases/families,Case(s),,250.0,Worldwide
167635,Scleromyxedema,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
765,Pyruvate dehydrogenase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
765,Pyruvate dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
408,Isolated glycerol kinase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
148,Multiple carboxylase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
147,Carbamoyl-phosphate synthetase 1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
147,Carbamoyl-phosphate synthetase 1 deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.19,Finland
147,Carbamoyl-phosphate synthetase 1 deficiency,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Worldwide
147,Carbamoyl-phosphate synthetase 1 deficiency,Prevalence at birth,Value and class,<1 / 1 000 000,0.077,United States
147,Carbamoyl-phosphate synthetase 1 deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.125,Japan
23,Argininosuccinic aciduria,Prevalence at birth,Value and class,1-9 / 1 000 000,0.46,United States
23,Argininosuccinic aciduria,Prevalence at birth,Value and class,1-9 / 1 000 000,0.69,Finland
23,Argininosuccinic aciduria,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
23,Argininosuccinic aciduria,Prevalence at birth,Value and class,1-9 / 100 000,1.05,Austria
45,Adenosine monophosphate deaminase deficiency,Cases/families,Case(s),,100.0,Worldwide
45,Adenosine monophosphate deaminase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
226,Dihydropteridine reductase deficiency,Cases/families,Case(s),,150.0,Worldwide
226,Dihydropteridine reductase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
217,Isolated Dandy-Walker malformation,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
217,Isolated Dandy-Walker malformation,Point prevalence,Value and class,1-9 / 100 000,2.1,Europe
1556,Cutis marmorata telangiectatica congenita,Cases/families,Case(s),,300.0,Worldwide
1556,Cutis marmorata telangiectatica congenita,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1538,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,Cases/families,Case(s),,4.0,Worldwide
1538,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1496,Corpus callosum agenesis-neuronopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1496,Corpus callosum agenesis-neuronopathy syndrome,Point prevalence,Value and class,1-5 / 10 000,47.0,Specific population
417,Neonatal severe primary hyperparathyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
2233,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
2233,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,18.0,Worldwide
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,16.2,United States
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,15.1,Europe
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,49.1,Austria
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,29.1,Belgium
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,56.8,Croatia
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Denmark
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,11.8,France
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,23.8,Germany
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,19.9,Hungary
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,18.1,Ireland
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.9,Italy
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,49.8,Malta
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Netherlands
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,16.4,Norway
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.2,Poland
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.5,Portugal
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,12.5,Switzerland
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,16.6,United Kingdom
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,22.3,Ukraine
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Spain
2248,Hypoplastic left heart syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,8.0,China
2248,Hypoplastic left heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,11.6,Sweden
446,Neonatal hemochromatosis,Cases/families,Case(s),,35.0,Worldwide
446,Neonatal hemochromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2135,Cutaneous mastocytosis-deafness-microtia syndrome,Cases/families,Case(s),,3.0,Worldwide
2135,Cutaneous mastocytosis-deafness-microtia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,30.0,Worldwide
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,21.2,Europe
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,39.3,Austria
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,14.6,Belgium
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Croatia
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,19.8,Denmark
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,23.6,France
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-9 / 100 000,5.9,Germany
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,23.2,Hungary
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,21.7,Ireland
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,22.6,Italy
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,49.8,Malta
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,29.2,Netherlands
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,22.9,Norway
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-9 / 100 000,8.2,Poland
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,18.9,Portugal
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-9 / 100 000,9.4,Spain
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,38.9,Switzerland
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,19.7,United Kingdom
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,22.3,Ukraine
2140,Congenital diaphragmatic hernia,Prevalence at birth,Value and class,1-5 / 10 000,33.0,United States
2140,Congenital diaphragmatic hernia,Point prevalence,Class only,Unknown,0.0,Worldwide
2185,Congenital hydrocephalus,Prevalence at birth,Value and class,6-9 / 10 000,59.0,United States
2185,Congenital hydrocephalus,Point prevalence,Class only,Unknown,0.0,Worldwide
2185,Congenital hydrocephalus,Prevalence at birth,Value and class,1-5 / 10 000,46.5,Europe
2116,Hartnup disease,Point prevalence,Value and class,1-9 / 100 000,4.2,Worldwide
2116,Hartnup disease,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Australia
2116,Hartnup disease,Prevalence at birth,Value and class,1-9 / 100 000,3.85,United States
2116,Hartnup disease,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Specific population
2116,Hartnup disease,Point prevalence,Value and class,1-9 / 100 000,4.0,United Kingdom
2118,Hawkinsinuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2118,Hawkinsinuria,Cases/families,Family(ies),,5.0,Worldwide
351,Galactosialidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
351,Galactosialidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.14,Sweden
351,Galactosialidosis,Cases/families,Case(s),,100.0,Worldwide
2020,Congenital fiber-type disproportion myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
2053,Freeman-Sheldon syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2053,Freeman-Sheldon syndrome,Cases/families,Case(s),,100.0,Worldwide
295,Fetal parvovirus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",Cases/families,Case(s),,2.0,Worldwide
1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1880,Ebstein malformation of the tricuspid valve,Point prevalence,Value and class,1-9 / 100 000,1.25,Europe
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,3.5,Europe
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,7.8,France
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-5 / 10 000,19.5,Austria
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,3.1,Belgium
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-5 / 10 000,16.5,Croatia
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-5 / 10 000,18.2,Denmark
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-5 / 10 000,11.6,Germany
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Hungary
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Ireland
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,4.1,Italy
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-5 / 10 000,24.1,Malta
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,5.7,Netherlands
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Poland
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Spain
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-5 / 10 000,27.2,Switzerland
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,3.5,United Kingdom
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,6.5,Ukraine
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,4.7,"Taiwan, Province of China"
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,6.0,United States
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,6.6,Specific population
1880,Ebstein malformation of the tricuspid valve,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Norway
255,Dopa-responsive dystonia,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
255,Dopa-responsive dystonia,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Worldwide
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Europe
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Austria
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Belgium
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-5 / 10 000,14.8,Germany
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Hungary
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,8.1,Ireland
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Italy
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Norway
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-5 / 10 000,13.2,Switzerland
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.9,United Kingdom
1915,Fetal alcohol syndrome,Point prevalence,Value and class,>1 / 1000,6800.0,South Africa
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-5 / 10 000,13.6,France
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Poland
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Spain
1915,Fetal alcohol syndrome,Prevalence at birth,Value and class,6-9 / 10 000,80.8,Ukraine
1915,Fetal alcohol syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1885,Isolated ectopia lentis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1885,Isolated ectopia lentis,Cases/families,Case(s),,90.0,Worldwide
1851,Multicystic dysplastic kidney,Prevalence at birth,Value and class,1-5 / 10 000,23.26,Worldwide
1851,Multicystic dysplastic kidney,Point prevalence,Class only,Unknown,0.0,Worldwide
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,11.7,Europe
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,19.6,Austria
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Austria
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,14.6,Belgium
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Belgium
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,10.9,Croatia
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Croatia
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,19.8,Denmark
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Denmark
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,13.6,France
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,France
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,11.6,Germany
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Germany
660,Omphalocele,Prevalence at birth,Value and class,1-9 / 100 000,6.6,Hungary
660,Omphalocele,Point prevalence,Class only,1-9 / 100 000,0.0,Hungary
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,25.3,Ireland
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Ireland
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,11.0,Italy
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Italy
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,48.2,Malta
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Malta
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,22.9,Netherlands
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Netherlands
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,11.2,Norway
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Norway
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,12.1,Poland
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Poland
660,Omphalocele,Prevalence at birth,Value and class,1-9 / 100 000,6.9,Spain
660,Omphalocele,Point prevalence,Class only,1-9 / 100 000,0.0,Spain
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,12.3,Switzerland
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Switzerland
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,11.6,United Kingdom
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,United Kingdom
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,16.2,Ukraine
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Ukraine
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Czech Republic
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,Czech Republic
660,Omphalocele,Prevalence at birth,Value and class,1-9 / 100 000,6.3,Japan
660,Omphalocele,Point prevalence,Class only,1-9 / 100 000,0.0,Japan
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,15.2,China
660,Omphalocele,Prevalence at birth,Value and class,1-5 / 10 000,18.6,United States
660,Omphalocele,Point prevalence,Class only,1-5 / 10 000,0.0,United States
635,Neuroblastoma,Point prevalence,Value and class,1-5 / 10 000,11.0,Europe
635,Neuroblastoma,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Europe
635,Neuroblastoma,Prevalence at birth,Value and class,1-9 / 100 000,2.5,United States
635,Neuroblastoma,Prevalence at birth,Value and class,1-5 / 10 000,14.0,Germany
635,Neuroblastoma,Annual incidence,Value and class,1-9 / 100 000,1.26,Worldwide
2612,Linear nevus sebaceus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2635,Metatropic dysplasia,Cases/families,Case(s),,81.0,Worldwide
2635,Metatropic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2635,Metatropic dysplasia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.5,Europe
2655,Thanatophoric dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,2.8,France
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.5,Italy
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Sweden
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,3.8,Denmark
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Ireland
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.7,Latin America
2655,Thanatophoric dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.3,United States
606,Proximal myotonic myopathy,Point prevalence,Value and class,1-9 / 100 000,1.0,Germany
606,Proximal myotonic myopathy,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
606,Proximal myotonic myopathy,Point prevalence,Value and class,1-5 / 10 000,10.0,Finland
606,Proximal myotonic myopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.17,United Kingdom
705,Pendred syndrome,Point prevalence,Value and class,1-9 / 100 000,7.0,Europe
2801,Juvenile Paget disease,Cases/families,Case(s),,50.0,Worldwide
2801,Juvenile Paget disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
884,Pallister-Killian syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Europe
884,Pallister-Killian syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2785,Osteopetrosis with renal tubular acidosis,Cases/families,Case(s),,100.0,Worldwide
2785,Osteopetrosis with renal tubular acidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2744,Horizontal gaze palsy with progressive scoliosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2746,Opsismodysplasia,Cases/families,Case(s),,30.0,Worldwide
2746,Opsismodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2971,Peroxisomal acyl-CoA oxidase deficiency,Cases/families,Case(s),,40.0,Worldwide
2971,Peroxisomal acyl-CoA oxidase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2970,Prune belly syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.4,Italy
2970,Prune belly syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,United Kingdom
2970,Prune belly syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.42,Canada
2970,Prune belly syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.8,United States
2970,Prune belly syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
744,Proteus syndrome,Prevalence at birth,Class only,<1 / 1 000 000,0.0,Europe
744,Proteus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2903,Familial spontaneous pneumothorax,Point prevalence,Value and class,1-5 / 10 000,54.64,Finland
2901,Neuralgic amyotrophy,Annual incidence,Value and class,1-9 / 100 000,1.64,United States
2901,Neuralgic amyotrophy,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
2901,Neuralgic amyotrophy,Annual incidence,Value and class,1-9 / 100 000,3.0,United Kingdom
2901,Neuralgic amyotrophy,Lifetime Prevalence,Value and class,1-5 / 10 000,30.0,United Kingdom
718,Isolated Pierre Robin sequence,Point prevalence,Class only,1-9 / 100 000,0.0,United Kingdom
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-9 / 100 000,8.0,France
718,Isolated Pierre Robin sequence,Point prevalence,Class only,1-9 / 100 000,0.0,France
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-5 / 10 000,12.4,Germany
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-9 / 100 000,3.5,Denmark
718,Isolated Pierre Robin sequence,Point prevalence,Class only,1-9 / 100 000,0.0,Denmark
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-9 / 100 000,4.5,Sweden
718,Isolated Pierre Robin sequence,Point prevalence,Class only,1-9 / 100 000,0.0,Sweden
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-9 / 100 000,5.9,United Kingdom
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-9 / 100 000,7.9,United States
718,Isolated Pierre Robin sequence,Point prevalence,Class only,1-9 / 100 000,0.0,United States
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Europe
718,Isolated Pierre Robin sequence,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-9 / 100 000,6.4,Netherlands
718,Isolated Pierre Robin sequence,Prevalence at birth,Value and class,1-5 / 10 000,18.8,Australia
290,Congenital rubella syndrome,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Worldwide
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.29,France
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.24,Germany
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Italy
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.64,Netherlands
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.27,Austria
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.18,Romania
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.22,Spain
290,Congenital rubella syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Turkey
290,Congenital rubella syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.03,Europe
290,Congenital rubella syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.35,Europe
290,Congenital rubella syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3071,Costello syndrome,Cases/families,Case(s),,300.0,Worldwide
3071,Costello syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.08,Japan
3071,Costello syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
763,Pycnodysostosis,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Worldwide
763,Pycnodysostosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
2983,Difference of sex development-intellectual disability syndrome,Cases/families,Case(s),,3.0,Worldwide
2983,Difference of sex development-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2301,Congenital short bowel syndrome,Cases/families,Case(s),,43.0,Worldwide
2301,Congenital short bowel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
469,Hereditary fructose intolerance,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
469,Hereditary fructose intolerance,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Switzerland
469,Hereditary fructose intolerance,Point prevalence,Class only,1-9 / 100 000,0.0,Switzerland
469,Hereditary fructose intolerance,Prevalence at birth,Value and class,1-9 / 100 000,5.0,United Kingdom
469,Hereditary fructose intolerance,Point prevalence,Class only,1-9 / 100 000,0.0,United Kingdom
469,Hereditary fructose intolerance,Prevalence at birth,Value and class,1-9 / 100 000,3.8,Germany
469,Hereditary fructose intolerance,Point prevalence,Class only,1-9 / 100 000,0.0,Germany
469,Hereditary fructose intolerance,Prevalence at birth,Class only,1-9 / 100 000,0.0,Poland
469,Hereditary fructose intolerance,Point prevalence,Value and class,1-9 / 100 000,3.2,Poland
469,Hereditary fructose intolerance,Point prevalence,Value and class,1-9 / 100 000,7.5,Finland
469,Hereditary fructose intolerance,Point prevalence,Value and class,1-9 / 1 000 000,0.753,United States
469,Hereditary fructose intolerance,Point prevalence,Value and class,1-9 / 1 000 000,0.38,Specific population
469,Hereditary fructose intolerance,Point prevalence,Value and class,1-9 / 1 000 000,0.1981,China
2308,Jacobsen syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.5,United States
2308,Jacobsen syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2318,Joubert syndrome with oculorenal defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2318,Joubert syndrome with oculorenal defect,Cases/families,Case(s),,17.0,Worldwide
2253,Foveal hypoplasia-presenile cataract syndrome,Cases/families,Case(s),,11.0,Worldwide
2253,Foveal hypoplasia-presenile cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2300,Isolated multiple intestinal atresia,Point prevalence,Class only,Unknown,0.0,Worldwide
2300,Isolated multiple intestinal atresia,Prevalence at birth,Value and class,1-9 / 100 000,4.05,Worldwide
180226,Embryonal carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
502,Trichorhinophalangeal syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
502,Trichorhinophalangeal syndrome type 2,Cases/families,Case(s),,100.0,Worldwide
180229,Polyembryoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
2370,Larsen-like osseous dysplasia-short stature syndrome,Cases/families,Case(s),,3.0,Worldwide
2370,Larsen-like osseous dysplasia-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477,KID syndrome,Cases/families,Case(s),,100.0,Worldwide
477,KID syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
180247,Vaginal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Worldwide
506,Leigh syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Europe
506,Leigh syndrome,Annual incidence,Value and class,1-9 / 100 000,1.3,Australia
506,Leigh syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
506,Leigh syndrome,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
2430,Congenital macroglossia,Prevalence at birth,Value and class,1-9 / 100 000,4.6,United States
2430,Congenital macroglossia,Point prevalence,Class only,Unknown,0.0,Worldwide
2414,Congenital pulmonary lymphangiectasia,Cases/families,Case(s),,100.0,Worldwide
2414,Congenital pulmonary lymphangiectasia,Point prevalence,Class only,Unknown,0.0,Worldwide
2373,Congenital laryngomalacia,Annual incidence,Value and class,1-5 / 10 000,40.0,Worldwide
2373,Congenital laryngomalacia,Point prevalence,Class only,Unknown,0.0,Worldwide
180234,Mixed germ cell tumor,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
2377,Laurence-Moon syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2374,Isolated congenital laryngeal web,Point prevalence,Class only,Unknown,0.0,Worldwide
180242,Malignant tumor of fallopian tubes,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
180242,Malignant tumor of fallopian tubes,Annual incidence,Value and class,1-9 / 1 000 000,0.11,United Kingdom
180242,Malignant tumor of fallopian tubes,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Denmark
180242,Malignant tumor of fallopian tubes,Annual incidence,Value and class,1-9 / 1 000 000,0.16,United States
2466,MASA syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.51,Europe
180275,Paget disease of the nipple,Annual incidence,Value and class,<1 / 1 000 000,0.065,Finland
180275,Paget disease of the nipple,Annual incidence,Value and class,<1 / 1 000 000,0.096,Poland
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.179,Austria
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.433,Belgium
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.235,Bulgaria
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.192,Croatia
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.287,Czech Republic
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.434,Estonia
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.29,Germany
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.682,Iceland
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.487,Ireland
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.421,Italy
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.254,Latvia
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.215,Lithuania
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.345,Malta
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.709,Norway
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.209,Portugal
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.21,Slovakia
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.457,Slovenia
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.415,Spain
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.394,Switzerland
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.335,Netherlands
180275,Paget disease of the nipple,Annual incidence,Value and class,1-9 / 1 000 000,0.637,United Kingdom
560,Marshall syndrome,Cases/families,Case(s),,17.0,Worldwide
560,Marshall syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
570,Moebius syndrome,Cases/families,Case(s),,300.0,Worldwide
570,Moebius syndrome,Point prevalence,Value and class,1-9 / 100 000,0.3,Worldwide
570,Moebius syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.12,Netherlands
570,Moebius syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.27,Italy
570,Moebius syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.06,Italy
1505,Short rib-polydactyly syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,8.2,Europe
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Belgium
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-5 / 10 000,17.7,France
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,5.9,Germany
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Hungary
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,7.2,Ireland
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Italy
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-5 / 10 000,17.1,Netherlands
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,4.9,Norway
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Poland
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,3.8,Spain
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-5 / 10 000,12.3,Switzerland
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-5 / 10 000,18.1,United Kingdom
2444,Congenital pulmonary airway malformation,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Ukraine
2444,Congenital pulmonary airway malformation,Point prevalence,Class only,Unknown,0.0,Europe
612,Potassium-aggravated myotonia,Point prevalence,Class only,Unknown,0.0,Worldwide
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,6.0,France
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,10.99,France
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Europe
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,11.5079,Europe
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,3.4,United Kingdom
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,10.0,United Kingdom
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,22.0,Ireland
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,22.0,Ireland
716,Phenylketonuria,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Finland
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 1 000 000,0.8928,Finland
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,5.577,United States
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,4.0,United States
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Latin America
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,3.5999,Latin America
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,5.5,Brazil
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,4.0,Brazil
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,2.266,Australia
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,8.89,Australia
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,11.9,Iceland
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,11.9,Iceland
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,1.16,Japan
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Japan
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,4.412,China
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,6.2798,China
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,2.68,Thailand
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 1 000 000,0.4399,Thailand
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,9.95,Turkey
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,14.99,Turkey
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,7.6,United Arab Emirates
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,6.89,United Arab Emirates
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,20.0,Jordan
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,2.6,Jordan
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,5.4644,India
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,2.439,"Korea, Republic of"
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 1 000 000,0.862,Philippines
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,1.2,Singapore
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,1.6999,"Taiwan, Province of China"
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,4.5,Bahrain
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,20.0,"Iran, Islamic Republic of"
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,6.9998,Iraq
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,15.603,Israel
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,7.02,Saudi Arabia
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,20.0,Egypt
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,13.0005,Tunisia
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,17.349,Austria
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,13.0005,Belarus
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,10.0,Bosnia and Herzegovina
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,3.746,Bulgaria
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,12.0004,Croatia
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,7.6923,Cyprus
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,19.1534,Czech Republic
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,7.4437,Denmark
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,13.9997,Estonia
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,18.6567,Germany
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,9.5969,Greece
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,11.1111,Hungary
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,25.0,Italy
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,12.2399,Latvia
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,10.7526,Lithuania
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,13.5998,"Moldova, Republic of"
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,8.661,Netherlands
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,8.7282,Norway
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,12.3051,Poland
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,8.0,Portugal
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,10.0,Romania
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,12.9634,Russian Federation
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,8.13,Serbia
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,17.3822,Slovakia
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,4.9,Slovenia
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,9.8366,Spain
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,7.8858,Sweden
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,12.5,Switzerland
716,Phenylketonuria,Point prevalence,Value and class,1-5 / 10 000,14.0016,Ukraine
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,6.6666,Canada
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,6.2798,New Caledonia
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,6.2798,New Zealand
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,6.3633,Argentina
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,5.1999,Chile
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,2.0333,Costa rica
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,3.5999,Mexico
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,2.129,Peru
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,2.0,Cuba
716,Phenylketonuria,Point prevalence,Value and class,1-9 / 100 000,4.1366,Worldwide
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,13.34,India
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,22.7,Pakistan
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,6.8,Saudi Arabia
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,8.75,Austria
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,16.6,Estonia
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,9.316,Germany
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,4.25,Greece
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,8.5,Hungary
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,7.933,Italy
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,24.6,North Macedonia
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,7.85,Poland
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,6.0,Portugal
716,Phenylketonuria,Prevalence at birth,Value and class,1-5 / 10 000,16.9,Slovakia
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,6.6,Spain
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,7.55,Chile
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,7.271,"Iran, Islamic Republic of"
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,5.5,Canada
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,5.1,"Korea, Republic of"
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,1.433,"Taiwan, Province of China"
716,Phenylketonuria,Prevalence at birth,Value and class,1-9 / 100 000,6.4,Worldwide
287,Classical Ehlers-Danlos syndrome,Point prevalence,Value and class,1-9 / 100 000,5.0,Worldwide
1020,Early-onset autosomal dominant Alzheimer disease,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
63,Alport syndrome,Point prevalence,Class only,Unknown,0.0,Europe
63,Alport syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Finland
54,X-linked recessive ocular albinism,Prevalence at birth,Value and class,1-9 / 1 000 000,0.58,Europe
54,X-linked recessive ocular albinism,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
54,X-linked recessive ocular albinism,Prevalence at birth,Value and class,1-9 / 1 000 000,0.84,Denmark
54,X-linked recessive ocular albinism,Point prevalence,Class only,1-9 / 1 000 000,0.0,Denmark
54,X-linked recessive ocular albinism,Prevalence at birth,Value and class,1-9 / 100 000,1.0,United States
54,X-linked recessive ocular albinism,Point prevalence,Class only,1-9 / 100 000,0.0,United States
154,Familial isolated dilated cardiomyopathy,Annual incidence,Value and class,1-9 / 100 000,2.91,Europe
154,Familial isolated dilated cardiomyopathy,Point prevalence,Value and class,1-5 / 10 000,17.5,Europe
154,Familial isolated dilated cardiomyopathy,Annual incidence,Value and class,1-9 / 100 000,6.0,United States
84,Fanconi anemia,Point prevalence,Value and class,1-9 / 100 000,3.3,Specific population
84,Fanconi anemia,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
84,Fanconi anemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.62,Europe
84,Fanconi anemia,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Israel
84,Fanconi anemia,Point prevalence,Value and class,1-9 / 100 000,2.5,Specific population
84,Fanconi anemia,Point prevalence,Value and class,1-9 / 100 000,2.5,Specific population
84,Fanconi anemia,Point prevalence,Value and class,1-9 / 1 000 000,0.111,China
70,Proximal spinal muscular atrophy,Annual incidence,Value and class,1-9 / 100 000,2.6,Europe
70,Proximal spinal muscular atrophy,Prevalence at birth,Value and class,1-5 / 10 000,20.0,Europe
70,Proximal spinal muscular atrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
69,Amyloidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
69,Amyloidosis,Point prevalence,Value and class,1-9 / 100 000,1.91,"Korea, Republic of"
191,Cockayne syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Europe
191,Cockayne syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
191,Cockayne syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.09,Germany
191,Cockayne syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.18,France
191,Cockayne syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Italy
191,Cockayne syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.45,Netherlands
191,Cockayne syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,United Kingdom
191,Cockayne syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,25.0,Europe
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,15.95,United Kingdom
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,6-9 / 10 000,61.0,Norway
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,28.2,Spain
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,17.5,Italy
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,19.55,Sweden
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-9 / 100 000,6.1,Denmark
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,12.0,Iceland
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,10.8,Japan
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-5 / 10 000,16.0,Cyprus
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Point prevalence,Value and class,1-9 / 100 000,9.7,Serbia
834,Free sialic acid storage disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
834,Free sialic acid storage disease,Cases/families,Case(s),,130.0,Worldwide
799,Schizencephaly,Prevalence at birth,Value and class,1-9 / 100 000,1.48,United Kingdom
799,Schizencephaly,Prevalence at birth,Value and class,1-9 / 100 000,1.54,United States
799,Schizencephaly,Point prevalence,Class only,Unknown,0.0,Europe
799,Schizencephaly,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Japan
3151,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,Cases/families,Case(s),,2.0,Worldwide
3151,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178566,Mycosis fungoides and variants,Annual incidence,Value and class,1-9 / 1 000 000,0.59,Europe
178566,Mycosis fungoides and variants,Point prevalence,Class only,Unknown,0.0,Worldwide
813,Silver-Russell syndrome,Annual incidence,Value and class,1-5 / 10 000,15.5,Europe
813,Silver-Russell syndrome,Prevalence at birth,Class only,1-9 / 100 000,0.0,United Kingdom
813,Silver-Russell syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,United Kingdom
813,Silver-Russell syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
813,Silver-Russell syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.98,Worldwide
3169,Sirenomelia,Point prevalence,Value and class,<1 / 1 000 000,0.01,Worldwide
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.71,Europe
3169,Sirenomelia,Point prevalence,Value and class,<1 / 1 000 000,0.009,Europe
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 100 000,1.04,France
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.62,Italy
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.64,Spain
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.54,Netherlands
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Finland
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.31,Slovakia
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.33,Hungary
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.74,United States
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Canada
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.83,China
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.79,Australia
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 100 000,2.36,Mexico
3169,Sirenomelia,Prevalence at birth,Value and class,1-9 / 100 000,1.36,Latin America
3169,Sirenomelia,Prevalence at birth,Value and class,1-5 / 10 000,12.0,Colombia
3169,Sirenomelia,Point prevalence,Value and class,1-9 / 1 000 000,0.98,Brazil
816,Sjögren-Larsson syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Sweden
816,Sjögren-Larsson syndrome,Point prevalence,Value and class,1-5 / 10 000,16.0,"Taiwan, Province of China"
816,Sjögren-Larsson syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
821,Sotos syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.1,Worldwide
821,Sotos syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
821,Sotos syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
821,Sotos syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
3173,Infantile spasms-broad thumbs syndrome,Cases/families,Case(s),,2.0,Worldwide
3173,Infantile spasms-broad thumbs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3204,Stormorken-Sjaastad-Langslet syndrome,Cases/families,Case(s),,17.0,Worldwide
3204,Stormorken-Sjaastad-Langslet syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3205,Sturge-Weber syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.5,Europe
3205,Sturge-Weber syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
3320,Thrombocytopenia-absent radius syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
3320,Thrombocytopenia-absent radius syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3346,Tracheal agenesis,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
3346,Tracheal agenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-5 / 10 000,33.0,Europe
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-5 / 10 000,30.0,France
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Greece
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-9 / 100 000,2.2,United Kingdom
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-9 / 100 000,7.3,Sweden
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-5 / 10 000,30.0,Denmark
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-5 / 10 000,50.0,Switzerland
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,>1 / 1000,130.0,Germany
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,>1 / 1000,113.0,Poland
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-5 / 10 000,40.0,Brazil
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,>1 / 1000,138.0,Italy
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,1-5 / 10 000,55.0,United States
858,Congenital toxoplasmosis,Point prevalence,Class only,Unknown,0.0,Worldwide
858,Congenital toxoplasmosis,Prevalence at birth,Value and class,>1 / 1000,640.0,"Iran, Islamic Republic of"
887,VACTERL/VATER association,Prevalence at birth,Value and class,1-9 / 100 000,6.25,Europe
887,VACTERL/VATER association,Point prevalence,Class only,Unknown,0.0,Worldwide
291,Congenital varicella syndrome,Cases/families,Case(s),,130.0,Worldwide
291,Congenital varicella syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
909,Cerebrotendinous xanthomatosis,Point prevalence,Value and class,1-9 / 100 000,2.0,Specific population
909,Cerebrotendinous xanthomatosis,Point prevalence,Value and class,<1 / 1 000 000,0.056,Spain
909,Cerebrotendinous xanthomatosis,Point prevalence,Value and class,1-9 / 100 000,4.0,United States
909,Cerebrotendinous xanthomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
3447,Weaver syndrome,Cases/families,Case(s),,48.0,Worldwide
3447,Weaver syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1422,Chondrodysplasia-difference of sex development syndrome,Cases/families,Case(s),,2.0,Worldwide
1422,Chondrodysplasia-difference of sex development syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178478,Infant botulism,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
178478,Infant botulism,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Europe
178478,Infant botulism,Prevalence at birth,Value and class,1-9 / 100 000,2.1,United States
178478,Infant botulism,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Argentina
178478,Infant botulism,Point prevalence,Class only,Unknown,0.0,Worldwide
178481,Intestinal botulism,Point prevalence,Class only,Unknown,0.0,Worldwide
178475,Wound botulism,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
178475,Wound botulism,Point prevalence,Class only,Unknown,0.0,Worldwide
178461,X-linked myopathy with postural muscle atrophy,Cases/families,Family(ies),,7.0,Worldwide
178461,X-linked myopathy with postural muscle atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178464,Hereditary myopathy with early respiratory failure,Cases/families,Family(ies),,10.0,Worldwide
178464,Hereditary myopathy with early respiratory failure,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178396,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,Cases/families,Case(s),,4.0,Worldwide
178396,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178400,Distal myopathy with anterior tibial onset,Cases/families,Case(s),,4.0,Worldwide
178400,Distal myopathy with anterior tibial onset,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178382,Congenital vertical talus,Point prevalence,Class only,Unknown,0.0,Worldwide
178389,Osteopetrosis-hypogammaglobulinemia syndrome,Cases/families,Case(s),,8.0,Worldwide
178389,Osteopetrosis-hypogammaglobulinemia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
62,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,Point prevalence,Value and class,<1 / 1 000 000,0.07,United Kingdom
62,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,Point prevalence,Class only,Unknown,0.0,Worldwide
178364,Syndromic microphthalmia type 5,Cases/families,Case(s),,20.0,Worldwide
178364,Syndromic microphthalmia type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,Cases/families,Case(s),,30.0,Worldwide
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178377,Osteosclerosis-developmental delay-craniosynostosis syndrome,Cases/families,Case(s),,13.0,Worldwide
178377,Osteosclerosis-developmental delay-craniosynostosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
348,"Fructose-1,6-bisphosphatase deficiency",Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Italy
348,"Fructose-1,6-bisphosphatase deficiency",Point prevalence,Class only,Unknown,0.0,Worldwide
178345,Aromatase excess syndrome,Cases/families,Case(s),,30.0,Worldwide
178345,Aromatase excess syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178355,Smith-McCort dysplasia,Cases/families,Case(s),,16.0,Worldwide
178355,Smith-McCort dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178338,UV-sensitive syndrome,Cases/families,Case(s),,7.0,Worldwide
178338,UV-sensitive syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3137,Alpha-N-acetylgalactosaminidase deficiency,Cases/families,Case(s),,20.0,Worldwide
3137,Alpha-N-acetylgalactosaminidase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
117,Behçet disease,Annual incidence,Value and class,1-9 / 1 000 000,0.66,Spain
117,Behçet disease,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Italy
117,Behçet disease,Point prevalence,Value and class,1-9 / 100 000,5.2,United States
117,Behçet disease,Annual incidence,Value and class,1-9 / 1 000 000,0.58,"Iran, Islamic Republic of"
117,Behçet disease,Point prevalence,Value and class,1-9 / 100 000,7.1,France
117,Behçet disease,Point prevalence,Value and class,1-9 / 100 000,3.8,Italy
117,Behçet disease,Point prevalence,Value and class,1-5 / 10 000,11.1,United Kingdom
117,Behçet disease,Point prevalence,Value and class,1-9 / 100 000,1.2,Sweden
117,Behçet disease,Point prevalence,Value and class,1-9 / 100 000,1.5,Portugal
117,Behçet disease,Point prevalence,Value and class,1-5 / 10 000,10.0,Japan
117,Behçet disease,Point prevalence,Value and class,>1 / 1000,225.0,Turkey
117,Behçet disease,Point prevalence,Value and class,1-5 / 10 000,16.7,"Iran, Islamic Republic of"
117,Behçet disease,Point prevalence,Value and class,1-5 / 10 000,15.2,Israel
117,Behçet disease,Point prevalence,Value and class,1-9 / 100 000,1.4,"Taiwan, Province of China"
117,Behçet disease,Annual incidence,Value and class,1-9 / 1 000 000,0.8,"Taiwan, Province of China"
117,Behçet disease,Point prevalence,Value and class,1-5 / 10 000,20.0,Saudi Arabia
117,Behçet disease,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
117,Behçet disease,Annual incidence,Value and class,1-9 / 100 000,1.51,"Korea, Republic of"
732,Polymyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.585,Europe
732,Polymyositis,Point prevalence,Value and class,1-9 / 100 000,7.1,Europe
732,Polymyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.75,Argentina
732,Polymyositis,Point prevalence,Value and class,1-9 / 100 000,7.2,Argentina
732,Polymyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.41,Australia
732,Polymyositis,Point prevalence,Value and class,1-9 / 100 000,7.2,Australia
732,Polymyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.39,Spain
732,Polymyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.76,Sweden
221,Dermatomyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Australia
221,Dermatomyositis,Point prevalence,Value and class,1-9 / 100 000,1.97,Australia
221,Dermatomyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Argentina
221,Dermatomyositis,Point prevalence,Value and class,1-5 / 10 000,10.2,Argentina
221,Dermatomyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.49,Spain
221,Dermatomyositis,Annual incidence,Value and class,1-9 / 100 000,1.1,United States
221,Dermatomyositis,Point prevalence,Value and class,1-5 / 10 000,13.0,United States
221,Dermatomyositis,Point prevalence,Value and class,1-9 / 100 000,4.9172,Norway
221,Dermatomyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Sweden
221,Dermatomyositis,Point prevalence,Value and class,1-9 / 100 000,3.8,Sweden
221,Dermatomyositis,Annual incidence,Value and class,1-9 / 100 000,3.5,Germany
221,Dermatomyositis,Point prevalence,Value and class,1-5 / 10 000,11.3,Germany
221,Dermatomyositis,Annual incidence,Value and class,1-9 / 100 000,0.9704,Worldwide
221,Dermatomyositis,Point prevalence,Value and class,1-9 / 100 000,7.5312,Worldwide
598,Multiminicore myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.125,Australia
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.0937,Australia
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.152,Austria
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.114,Austria
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.117,Belgium
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.087,Belgium
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.105,Canada
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.078,Canada
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Czech Republic
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.09,Czech Republic
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.104,Cyprus
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.078,Cyprus
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.147,Denmark
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.11,Denmark
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,<1 / 1 000 000,0.032,Estonia
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.024,Estonia
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.141,Finland
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.105,Finland
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.16,France
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.12,France
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.133,Germany
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.099,Germany
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,<1 / 1 000 000,0.062,Greece
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.0465,Greece
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.0107,Hungary
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.08,Hungary
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.142,Italy
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.1065,Italy
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.123,Netherlands
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.092,Netherlands
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.102,Norway
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.0765,Norway
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,<1 / 1 000 000,0.0086,Slovakia
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.0645,Slovakia
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.146,Slovenia
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.1095,Slovenia
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.128,Spain
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.096,Spain
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.142,Sweden
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.1065,Sweden
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.173,Switzerland
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,1-9 / 1 000 000,0.129,Switzerland
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,<1 / 1 000 000,0.055,"Taiwan, Province of China"
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.041,"Taiwan, Province of China"
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.124,United Kingdom
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.093,United Kingdom
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.122,United States
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.0915,United States
204,Sporadic Creutzfeldt-Jakob disease,Point prevalence,Value and class,<1 / 1 000 000,0.088,Worldwide
204,Sporadic Creutzfeldt-Jakob disease,Annual incidence,Value and class,1-9 / 1 000 000,0.118,Worldwide
178517,Localized pagetoid reticulosis,Point prevalence,Class only,Unknown,0.0,Worldwide
178512,Folliculotropic mycosis fungoides,Point prevalence,Class only,Unknown,0.0,Worldwide
178509,Perry syndrome,Cases/families,Case(s),,53.0,Worldwide
178509,Perry syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178506,Interstitial lung disease-brain calcification syndrome,Cases/families,Case(s),,8.0,Worldwide
178506,Interstitial lung disease-brain calcification syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
611,Inclusion body myositis,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
611,Inclusion body myositis,Annual incidence,Value and class,1-9 / 1 000 000,2.5,Sweden
611,Inclusion body myositis,Point prevalence,Value and class,1-9 / 1 000 000,0.49,Netherlands
611,Inclusion body myositis,Point prevalence,Value and class,1-9 / 100 000,1.2,Australia
611,Inclusion body myositis,Point prevalence,Value and class,1-9 / 100 000,1.1,United States
611,Inclusion body myositis,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Turkey
611,Inclusion body myositis,Point prevalence,Value and class,1-9 / 100 000,3.2,Sweden
178487,Adult intestinal botulism,Cases/families,Case(s),,19.0,Worldwide
178487,Adult intestinal botulism,Point prevalence,Class only,Unknown,0.0,Worldwide
177926,Bleeding disorder in hemophilia A carriers,Point prevalence,Class only,Unknown,0.0,Worldwide
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.21,Brazil
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.87,Europe
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 100 000,1.57,Germany
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.84,Portugal
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 100 000,1.89,Netherlands
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 100 000,1.42,Australia
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.91,Czech Republic
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.84,Sweden
581,Mucopolysaccharidosis type 3,Point prevalence,Value and class,1-9 / 100 000,1.63,Sweden
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.27,Norway
581,Mucopolysaccharidosis type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.88,Norway
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.43,Denmark
581,Mucopolysaccharidosis type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.92,Denmark
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.36,Ireland
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.29,Canada
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.39,"Taiwan, Province of China"
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Tunisia
581,Mucopolysaccharidosis type 3,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Worldwide
581,Mucopolysaccharidosis type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.86,Poland
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.26,Japan
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Switzerland
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 100 000,1.8,Saudi Arabia
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.25,"Korea, Republic of"
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 100 000,1.62,Estonia
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 100 000,2.4,Israel
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Specific population
581,Mucopolysaccharidosis type 3,Point prevalence,Value and class,<1 / 1 000 000,0.071,United States
581,Mucopolysaccharidosis type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.26,United States
177929,Bleeding disorder in hemophilia B carriers,Point prevalence,Class only,Unknown,0.0,Worldwide
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,4.8,Europe
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,9.6,Spain
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,4.1,Portugal
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,1.3,Sweden
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,4.2,Worldwide
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,5.75,Tunisia
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,7.4,Norway
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,2.7,Italy
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,4.4,Estonia
685,Hereditary spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,2.1,Libyan Arab Jamahiriya
666,Osteogenesis imperfecta,Point prevalence,Value and class,1-5 / 10 000,8.06,Worldwide
666,Osteogenesis imperfecta,Prevalence at birth,Value and class,1-9 / 100 000,6.4,France
666,Osteogenesis imperfecta,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Latin America
666,Osteogenesis imperfecta,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Ireland
666,Osteogenesis imperfecta,Prevalence at birth,Value and class,1-9 / 100 000,6.95,United States
666,Osteogenesis imperfecta,Prevalence at birth,Value and class,1-9 / 100 000,7.4,Sweden
666,Osteogenesis imperfecta,Point prevalence,Value and class,1-9 / 1 000 000,0.375,China
178029,Arginine vasopressin deficiency,Point prevalence,Value and class,1-9 / 100 000,4.0,Europe
423,Malignant hyperthermia of anesthesia,Point prevalence,Class only,Unknown,0.0,Worldwide
418,Congenital adrenal hyperplasia,Annual incidence,Value and class,1-5 / 10 000,13.35,Europe
418,Congenital adrenal hyperplasia,Point prevalence,Value and class,1-9 / 100 000,10.0,Europe
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.7,Europe
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,8.6,France
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.65,Italy
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-5 / 10 000,12.8,Germany
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-5 / 10 000,10.2,Sweden
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,5.6,United Kingdom
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,7.65,Netherlands
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Belgium
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,9.3,Switzerland
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,5.35,Japan
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.9,New Zealand
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.3,Cuba
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,6.7,"Taiwan, Province of China"
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-5 / 10 000,38.8,India
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.8,United States
418,Congenital adrenal hyperplasia,Point prevalence,Value and class,1-9 / 100 000,1.36,China
418,Congenital adrenal hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,7.98,Czech Republic
216,Neuronal ceroid lipofuscinosis,Point prevalence,Class only,Unknown,0.0,Worldwide
216,Neuronal ceroid lipofuscinosis,Point prevalence,Value and class,1-9 / 1 000 000,0.12,Italy
216,Neuronal ceroid lipofuscinosis,Annual incidence,Value and class,1-9 / 1 000 000,0.98,Italy
216,Neuronal ceroid lipofuscinosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.56,Italy
216,Neuronal ceroid lipofuscinosis,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Norway
216,Neuronal ceroid lipofuscinosis,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
364,Glycogen storage disease due to glucose-6-phosphatase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
364,Glycogen storage disease due to glucose-6-phosphatase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
355,Gaucher disease,Annual incidence,Value and class,1-9 / 100 000,1.7,Europe
355,Gaucher disease,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Worldwide
355,Gaucher disease,Point prevalence,Value and class,1-9 / 1 000 000,0.67,Spain
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,5.7,Austria
355,Gaucher disease,Annual incidence,Value and class,1-9 / 100 000,2.6,France
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,2.0,France
355,Gaucher disease,Point prevalence,Value and class,1-9 / 1 000 000,0.74,France
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Australia
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,1.13,Czech Republic
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,1.35,Portugal
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,1.16,Netherlands
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,7.5,Hungary
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.45,Turkey
355,Gaucher disease,Prevalence at birth,Value and class,1-9 / 100 000,2.11,Sweden
355,Gaucher disease,Point prevalence,Value and class,1-9 / 1 000 000,0.224,China
388,Hirschsprung disease,Prevalence at birth,Value and class,1-5 / 10 000,13.2,Europe
388,Hirschsprung disease,Prevalence at birth,Value and class,1-5 / 10 000,21.0,United States
388,Hirschsprung disease,Point prevalence,Value and class,1-5 / 10 000,13.2,Europe
388,Hirschsprung disease,Point prevalence,Value and class,1-5 / 10 000,15.0,Worldwide
388,Hirschsprung disease,Prevalence at birth,Value and class,1-5 / 10 000,22.0,"Taiwan, Province of China"
388,Hirschsprung disease,Prevalence at birth,Value and class,1-5 / 10 000,15.0,Worldwide
177107,Syndromic hypothyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
448,Hemophilia,Annual incidence,Value and class,1-9 / 100 000,6.25,Europe
448,Hemophilia,Point prevalence,Value and class,1-9 / 100 000,7.7,Europe
448,Hemophilia,Point prevalence,Value and class,1-9 / 100 000,6.46,China
304,Epidermolysis bullosa simplex,Point prevalence,Value and class,1-9 / 1 000 000,0.656,Worldwide
304,Epidermolysis bullosa simplex,Point prevalence,Value and class,1-9 / 1 000 000,0.58,Australia
304,Epidermolysis bullosa simplex,Point prevalence,Value and class,1-9 / 100 000,1.19,Netherlands
304,Epidermolysis bullosa simplex,Point prevalence,Value and class,1-9 / 1 000 000,0.197,Romania
354,GM1 gangliosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Europe
354,GM1 gangliosidosis,Prevalence at birth,Value and class,1-5 / 10 000,27.0,Malta
354,GM1 gangliosidosis,Prevalence at birth,Value and class,1-9 / 100 000,5.9,Brazil
354,GM1 gangliosidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
354,GM1 gangliosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,Sweden
178320,Acute lung injury,Annual incidence,Value and class,1-5 / 10 000,25.0,Europe
178320,Acute lung injury,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
178320,Acute lung injury,Annual incidence,Value and class,1-5 / 10 000,25.0,Australia
178320,Acute lung injury,Annual incidence,Value and class,6-9 / 10 000,65.0,United States
178333,Åland Islands eye disease,Cases/families,Family(ies),,5.0,Worldwide
178333,Åland Islands eye disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
760,Purine nucleoside phosphorylase deficiency,Cases/families,Case(s),,72.0,Worldwide
760,Purine nucleoside phosphorylase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
270,Oculopharyngeal muscular dystrophy,Point prevalence,Value and class,>1 / 1000,167.0,Specific population
270,Oculopharyngeal muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.0,France
270,Oculopharyngeal muscular dystrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
270,Oculopharyngeal muscular dystrophy,Point prevalence,Value and class,>1 / 1000,100.0,Specific population
178303,8q22.1 microdeletion syndrome,Cases/families,Case(s),,6.0,Worldwide
178303,8q22.1 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
244,Primary ciliary dyskinesia,Point prevalence,Value and class,1-5 / 10 000,44.0,Pakistan
244,Primary ciliary dyskinesia,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Europe
178307,Reticulate acropigmentation of Kitamura,Cases/families,Case(s),,130.0,Worldwide
178307,Reticulate acropigmentation of Kitamura,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,1.7,Europe
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
589,Myasthenia gravis,Point prevalence,Value and class,1-9 / 100 000,7.77,Worldwide
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 1 000 000,0.9,United States
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,20.0,Canada
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,2.1,Spain
589,Myasthenia gravis,Lifetime Prevalence,Value and class,1-5 / 10 000,40.0,United Kingdom
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,1.11,United Kingdom
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,15.0,United Kingdom
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,1.33,Serbia
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,17.0,United States
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,31.8,Serbia
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,1.94,Italy
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,15.7,Austria
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,2.5,Australia
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,18.5,Italy
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,2.1,"Taiwan, Province of China"
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,11.7,Australia
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 1 000 000,0.74,Greece
589,Myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,14.0,"Taiwan, Province of China"
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 1 000 000,0.65,Croatia
589,Myasthenia gravis,Point prevalence,Value and class,1-9 / 100 000,7.8,Estonia
589,Myasthenia gravis,Point prevalence,Value and class,1-9 / 100 000,7.1,Greece
589,Myasthenia gravis,Point prevalence,Value and class,1-9 / 100 000,9.9,Croatia
589,Myasthenia gravis,Point prevalence,Value and class,1-9 / 100 000,3.2,Egypt
589,Myasthenia gravis,Annual incidence,Value and class,1-9 / 1 000 000,0.53,Worldwide
805,Tuberous sclerosis complex,Point prevalence,Value and class,1-9 / 100 000,1.58,"Taiwan, Province of China"
805,Tuberous sclerosis complex,Prevalence at birth,Value and class,1-9 / 100 000,5.62,Germany
805,Tuberous sclerosis complex,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
805,Tuberous sclerosis complex,Point prevalence,Value and class,1-9 / 100 000,3.87,Hong Kong
805,Tuberous sclerosis complex,Point prevalence,Value and class,1-9 / 100 000,5.38,Sweden
805,Tuberous sclerosis complex,Prevalence at birth,Value and class,1-9 / 100 000,4.45,United Kingdom
886,Usher syndrome,Point prevalence,Class only,1-9 / 100 000,4.53,Worldwide
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,5.0,Denmark
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,6.2,Germany
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,6.2,United Kingdom
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,3.6,Norway
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,4.2,Spain
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,3.5,Finland
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,4.4,United States
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,3.2,Colombia
886,Usher syndrome,Point prevalence,Value and class,1-9 / 100 000,3.0,Specific population
3440,Waardenburg syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.37,Europe
3440,Waardenburg syndrome,Point prevalence,Value and class,1-9 / 100 000,1.74,United States
3440,Waardenburg syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.4,Netherlands
3440,Waardenburg syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Netherlands
3440,Waardenburg syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
702,Pelizaeus-Merzbacher disease,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Europe
702,Pelizaeus-Merzbacher disease,Point prevalence,Value and class,1-9 / 1 000 000,0.35,United States
702,Pelizaeus-Merzbacher disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.13,Germany
738,Porphyria,Point prevalence,Value and class,1-9 / 100 000,5.25,Worldwide
738,Porphyria,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.7,Japan
738,Porphyria,Annual incidence,Value and class,1-9 / 1 000 000,0.52,Denmark
768,Congenital long QT syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,30.0,Europe
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,26.7,Worldwide
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,25.4,Denmark
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,22.5,Norway
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,21.0,United States
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,20.5,United Kingdom
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,26.4,China
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,16.7,Slovenia
791,Retinitis pigmentosa,Point prevalence,Value and class,1-5 / 10 000,11.09,"Korea, Republic of"
375,Anti-glomerular basement membrane disease,Annual incidence,Value and class,<1 / 1 000 000,0.08,Europe
375,Anti-glomerular basement membrane disease,Annual incidence,Value and class,1-9 / 1 000 000,0.179,New Zealand
375,Anti-glomerular basement membrane disease,Annual incidence,Value and class,<1 / 1 000 000,0.06,China
375,Anti-glomerular basement membrane disease,Point prevalence,Class only,Unknown,0.0,Worldwide
375,Anti-glomerular basement membrane disease,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.56,Europe
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,<1 / 1 000 000,0.09,Sweden
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.13,France
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.4,Sweden
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,<1 / 1 000 000,0.09,United Kingdom
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.3,Norway
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,<1 / 1 000 000,0.09,Spain
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,2.23,Australia
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Europe
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.5,Worldwide
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,<1 / 1 000 000,0.05,Norway
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Germany
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Lithuania
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,France
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,<1 / 1 000 000,0.06,Turkey
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,<1 / 1 000 000,0.014,Peru
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,2.4,Germany
183,Eosinophilic granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.78,Japan
183,Eosinophilic granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.4,United States
1164,Allergic bronchopulmonary aspergillosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2406,Locked-in syndrome,Cases/families,Case(s),,33.0,Worldwide
2406,Locked-in syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Europe
509,Leptospirosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.92,France
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Austria
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Belgium
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Bulgaria
509,Leptospirosis,Annual incidence,Value and class,1-9 / 100 000,1.13,Croatia
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Czech Republic
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Denmark
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Estonia
509,Leptospirosis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Finland
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Germany
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Greece
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Hungary
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Ireland
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Italy
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Latvia
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Lithuania
509,Leptospirosis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Luxembourg
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.42,Malta
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Netherlands
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Portugal
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Romania
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Slovakia
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.52,Slovenia
509,Leptospirosis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Sweden
509,Leptospirosis,Annual incidence,Value and class,1-9 / 1 000 000,0.1,United Kingdom
761,Immunoglobulin A vasculitis,Annual incidence,Value and class,6-9 / 10 000,55.9,"Korea, Republic of"
761,Immunoglobulin A vasculitis,Annual incidence,Value and class,1-5 / 10 000,30.0,France
761,Immunoglobulin A vasculitis,Annual incidence,Value and class,1-9 / 100 000,6.79,Croatia
761,Immunoglobulin A vasculitis,Annual incidence,Value and class,1-5 / 10 000,13.0,United Kingdom
761,Immunoglobulin A vasculitis,Annual incidence,Value and class,1-9 / 100 000,6.1,Netherlands
761,Immunoglobulin A vasculitis,Annual incidence,Value and class,1-5 / 10 000,17.55,Sweden
761,Immunoglobulin A vasculitis,Annual incidence,Value and class,1-9 / 100 000,12.9,"Taiwan, Province of China"
761,Immunoglobulin A vasculitis,Point prevalence,Class only,Unknown,0.0,Worldwide
2131,Alternating hemiplegia of childhood,Prevalence at birth,Value and class,1-9 / 1 000 000,0.94,Denmark
2131,Alternating hemiplegia of childhood,Point prevalence,Class only,Unknown,0.0,Worldwide
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,5.2,Europe
171901,Primary cutaneous T-cell lymphoma,Point prevalence,Value and class,1-5 / 10 000,24.0,Europe
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.09,Croatia
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.097,Latvia
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Poland
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.577,Austria
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.539,Belgium
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.158,Bulgaria
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.341,Czech Republic
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.185,Estonia
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.326,Germany
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.767,Iceland
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.647,Ireland
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.323,Lithuania
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.431,Norway
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.355,Portugal
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.273,Slovakia
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.225,Slovenia
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.594,Spain
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.231,Switzerland
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.441,Netherlands
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.197,United Kingdom
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.163,Italy
171901,Primary cutaneous T-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.57,Malta
713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,Cases/families,Family(ies),,30.0,Worldwide
713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171915,B-cell non-Hodgkin lymphoma,Annual incidence,Value and class,1-5 / 10 000,17.45,Europe
57,Glycogen storage disease due to aldolase A deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
249,Fibrous dysplasia of bone,Point prevalence,Class only,Unknown,0.0,Worldwide
2334,Autosomal dominant keratitis,Point prevalence,Class only,Unknown,0.0,Worldwide
171918,T-cell non-Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.99,Europe
755,Leydig cell hypoplasia,Cases/families,Case(s),,70.0,Worldwide
755,Leydig cell hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171929,Trisomy 10p syndrome,Cases/families,Case(s),,50.0,Worldwide
171929,Trisomy 10p syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
187,Citrullinemia,Point prevalence,Class only,Unknown,0.0,Worldwide
46,Adenylosuccinate lyase deficiency,Cases/families,Case(s),,56.0,Worldwide
46,Adenylosuccinate lyase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,38.0,Europe
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,10.0,France
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,France
442,Congenital hypothyroidism,Prevalence at birth,Value and class,6-9 / 10 000,57.0,United Kingdom
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,United Kingdom
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,45.5,Italy
442,Congenital hypothyroidism,Prevalence at birth,Value and class,6-9 / 10 000,57.0,Greece
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,55.5,Cyprus
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,15.5,Latvia
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Latvia
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,49.1,China
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,China
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,30.2,Germany
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Germany
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,29.4,Denmark
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,25.0,Poland
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Poland
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,35.0,Estonia
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Estonia
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,54.8,Lebanon
442,Congenital hypothyroidism,Prevalence at birth,Value and class,>1 / 1000,150.0,"Iran, Islamic Republic of"
442,Congenital hypothyroidism,Prevalence at birth,Value and class,6-9 / 10 000,73.35,Brazil
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,43.0,Turkey
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Turkey
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,35.4,Australia
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Australia
442,Congenital hypothyroidism,Prevalence at birth,Value and class,6-9 / 10 000,63.7,United Arab Emirates
442,Congenital hypothyroidism,Prevalence at birth,Value and class,6-9 / 10 000,76.9,Bangladesh
442,Congenital hypothyroidism,Prevalence at birth,Value and class,6-9 / 10 000,62.5,Pakistan
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,50.2,"Taiwan, Province of China"
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,43.0,Mexico
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Mexico
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,25.3,Bosnia and Herzegovina
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Bosnia and Herzegovina
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,33.7,Bahrain
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Bahrain
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,36.0,New Zealand
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,New Zealand
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,16.0,Thailand
442,Congenital hypothyroidism,Point prevalence,Class only,1-5 / 10 000,0.0,Thailand
442,Congenital hypothyroidism,Prevalence at birth,Class only,1-5 / 10 000,0.0,United States
442,Congenital hypothyroidism,Point prevalence,Value and class,1-5 / 10 000,44.0,United States
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,37.3,Specific population
442,Congenital hypothyroidism,Annual incidence,Value and class,6-9 / 10 000,97.0873,Brazil
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,34.76,Czech Republic
442,Congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,45.0,Ireland
43,X-linked adrenoleukodystrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Israel
43,X-linked adrenoleukodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Norway
43,X-linked adrenoleukodystrophy,Prevalence at birth,Value and class,1-5 / 10 000,2.0639,United States
3166,Sialuria,Cases/families,Case(s),,5.0,Worldwide
3166,Sialuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2882,Sitosterolemia,Cases/families,Case(s),,100.0,Worldwide
2882,Sitosterolemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
810,Shigellosis,Point prevalence,Class only,Unknown,0.0,Worldwide
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.68,Europe
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.78,Austria
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,8.18,Bulgaria
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.33,Croatia
810,Shigellosis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Cyprus
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.6,Czech Republic
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,2.08,Denmark
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.38,Estonia
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.82,Finland
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,2.54,France
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.7,Germany
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.74,Greece
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Hungary
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.12,Ireland
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.34,Latvia
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.12,Lithuania
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,2.6,Luxembourg
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.34,Malta
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,2.4,Netherlands
810,Shigellosis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Poland
810,Shigellosis,Annual incidence,Value and class,<1 / 1 000 000,0.08,Portugal
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.18,Romania
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,6.1,Slovakia
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,1.02,Slovenia
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.44,Spain
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,3.68,Sweden
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,3.32,United Kingdom
810,Shigellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Iceland
810,Shigellosis,Annual incidence,Value and class,1-9 / 100 000,2.06,Norway
3165,Eosinophilic fasciitis,Point prevalence,Class only,Unknown,0.0,Worldwide
3165,Eosinophilic fasciitis,Point prevalence,Value and class,1-9 / 100 000,1.4,France
2420,Primary pulmonary lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.0,Europe
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Germany
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,4.2843,Worldwide
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.16,Spain
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,9.4,Sweden
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Australia
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,2.5,France
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.27,Norway
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,3.7,New Zealand
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.74,United Kingdom
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,6.3,United Kingdom
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,2.8,Germany
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,3.91,Australia
727,Microscopic polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.38,Japan
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 100 000,2.4,Kuwait
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.82,Japan
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.71,Canada
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.02,Greece
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Lithuania
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.01,Sweden
727,Microscopic polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.6,United States
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.85,Europe
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,9.0,Europe
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.0,United Kingdom
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-5 / 10 000,16.0,Sweden
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.86,Germany
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,2.37,France
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.19,Sweden
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.49,Spain
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,9.51,Norway
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.0,Norway
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,9.5,Australia
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,9.35,New Zealand
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.93,Finland
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,2.6,United States
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,1.94,China
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.21,Lithuania
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.66,Greece
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Italy
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.46,Canada
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 1 000 000,0.21,Japan
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,<1 / 1 000 000,0.037,"Taiwan, Province of China"
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 1 000 000,0.23,Japan
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-9 / 100 000,3.43,Italy
900,Granulomatosis with polyangiitis,Point prevalence,Value and class,1-5 / 10 000,10.0,Denmark
900,Granulomatosis with polyangiitis,Annual incidence,Value and class,1-9 / 100 000,1.3,United States
863,Trichinellosis,Point prevalence,Class only,Unknown,0.0,Europe
863,Trichinellosis,Annual incidence,Value and class,<1 / 1 000 000,0.06,Europe
863,Trichinellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.48,Bulgaria
863,Trichinellosis,Annual incidence,Value and class,<1 / 1 000 000,0.067,Croatia
863,Trichinellosis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Estonia
863,Trichinellosis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Italy
863,Trichinellosis,Annual incidence,Value and class,1-9 / 100 000,1.06,Latvia
863,Trichinellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Lithuania
863,Trichinellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.64,Romania
863,Trichinellosis,Annual incidence,Value and class,<1 / 1 000 000,0.08,Slovakia
134,Beta-ketothiolase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
134,Beta-ketothiolase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.72,Australia
134,Beta-ketothiolase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.43,United States
134,Beta-ketothiolase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.98,China
134,Beta-ketothiolase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.53,Viet Nam
171700,Diffuse panbronchiolitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
171703,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,Cases/families,Case(s),,4.0,Worldwide
171703,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171706,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
171719,Cutis laxa-Marfanoid syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171719,Cutis laxa-Marfanoid syndrome,Cases/families,Case(s),,18.0,Worldwide
1163,Aspergillosis,Point prevalence,Class only,Unknown,0.0,Worldwide
3467,Hereditary xanthinuria,Cases/families,Case(s),,150.0,Worldwide
3467,Hereditary xanthinuria,Annual incidence,Value and class,1-9 / 100 000,9.05,Europe
3467,Hereditary xanthinuria,Point prevalence,Class only,Unknown,0.0,Worldwide
171673,Limbal stem cell deficiency,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Worldwide
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.78,United States
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.79,Italy
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 100 000,7.3,Tunisia
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.19,Japan
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 100 000,1.15,Portugal
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Australia
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.86,"Taiwan, Province of China"
511,Maple syrup urine disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Israel
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-5 / 10 000,10.2,Specific population
511,Maple syrup urine disease,Point prevalence,Value and class,1-9 / 1 000 000,0.396,China
511,Maple syrup urine disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,Czech Republic
171680,Lissencephaly due to TUBA1A mutation,Cases/families,Case(s),,15.0,Worldwide
171680,Lissencephaly due to TUBA1A mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
32,Glutathione synthetase deficiency,Cases/families,Case(s),,70.0,Worldwide
32,Glutathione synthetase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
26,Methylmalonic acidemia with homocystinuria,Cases/families,Case(s),,500.0,Worldwide
26,Methylmalonic acidemia with homocystinuria,Point prevalence,Class only,Unknown,0.0,Worldwide
171863,Autosomal dominant spastic paraplegia type 42,Cases/families,Family(ies),,1.0,Worldwide
171863,Autosomal dominant spastic paraplegia type 42,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171871,Renal pseudohypoaldosteronism type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.51,United Kingdom
322,Exstrophy-epispadias complex,Point prevalence,Class only,Unknown,0.0,Worldwide
171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",Cases/families,Case(s),,3.0,Worldwide
171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,16.9,Europe
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,29.4,Austria
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,14.6,Belgium
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,22.7,Croatia
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Denmark
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,17.7,France
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,41.6,Germany
2368,Gastroschisis,Prevalence at birth,Value and class,1-9 / 100 000,6.2,Hungary
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,18.1,Ireland
2368,Gastroschisis,Prevalence at birth,Value and class,1-9 / 100 000,9.9,Italy
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,25.8,Malta
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,17.5,Netherlands
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,36.0,Norway
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,11.6,Poland
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,11.0,Portugal
2368,Gastroschisis,Prevalence at birth,Value and class,1-9 / 100 000,5.6,Spain
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,12.3,Switzerland
2368,Gastroschisis,Prevalence at birth,Value and class,1-5 / 10 000,36.3,United Kingdom
2368,Gastroschisis,Prevalence at birth,Value and class,1-9 / 100 000,9.5,Ukraine
2368,Gastroschisis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
171881,Cap myopathy,Cases/families,Case(s),,21.0,Worldwide
171881,Cap myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2512,Autosomal recessive primary microcephaly,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Specific population
2512,Autosomal recessive primary microcephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
2512,Autosomal recessive primary microcephaly,Annual incidence,Value and class,1-9 / 100 000,1.0,Pakistan
171876,Generalized pseudohypoaldosteronism type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,United Kingdom
795,Rare form of salmonellosis,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
797,Sarcoidosis,Point prevalence,Value and class,6-9 / 10 000,60.0,United States
797,Sarcoidosis,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,48.1,Ireland
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,3.3,Croatia
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,5.0,United Kingdom
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,30.2,France
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,4.5,Spain
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,28.2,Finland
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,4.68,Denmark
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,7.0,Switzerland
797,Sarcoidosis,Point prevalence,Class only,6-9 / 10 000,0.0,Switzerland
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,1.07,Greece
797,Sarcoidosis,Point prevalence,Value and class,1-9 / 100 000,5.89,Greece
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,3.84,Iceland
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,4.0,Czech Republic
797,Sarcoidosis,Point prevalence,Value and class,6-9 / 10 000,63.0,Czech Republic
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,5.35,Australia
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,1.01,Japan
797,Sarcoidosis,Point prevalence,Value and class,1-9 / 100 000,3.7,Japan
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.125,"Korea, Republic of"
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.56,Singapore
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,49.0,Italy
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,4.9,France
797,Sarcoidosis,Point prevalence,Value and class,>1 / 1000,160.0,Sweden
797,Sarcoidosis,Annual incidence,Value and class,1-5 / 10 000,11.5,Sweden
797,Sarcoidosis,Point prevalence,Value and class,1-9 / 100 000,2.17,"Taiwan, Province of China"
797,Sarcoidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Portugal
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,26.7,Norway
797,Sarcoidosis,Annual incidence,Value and class,1-5 / 10 000,14.4,Norway
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,10.5,Canada
797,Sarcoidosis,Point prevalence,Value and class,1-5 / 10 000,21.0,Guadeloupe
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 100 000,2.3,Guadeloupe
797,Sarcoidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Uruguay
92,Juvenile idiopathic arthritis,Annual incidence,Value and class,1-5 / 10 000,13.0,Czech Republic
92,Juvenile idiopathic arthritis,Annual incidence,Value and class,1-9 / 100 000,1.5,Europe
92,Juvenile idiopathic arthritis,Point prevalence,Value and class,1-9 / 100 000,4.7,France
92,Juvenile idiopathic arthritis,Point prevalence,Value and class,1-9 / 100 000,8.9,United States
92,Juvenile idiopathic arthritis,Point prevalence,Value and class,1-5 / 10 000,21.0,Czech Republic
92,Juvenile idiopathic arthritis,Point prevalence,Value and class,1-5 / 10 000,20.5,Worldwide
92,Juvenile idiopathic arthritis,Point prevalence,Value and class,6-9 / 10 000,74.6,Specific population
92,Juvenile idiopathic arthritis,Annual incidence,Value and class,1-9 / 100 000,7.8,Worldwide
171829,6q16 microdeletion syndrome,Cases/families,Case(s),,12.0,Worldwide
171829,6q16 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1201,Small bowel atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Europe
1201,Small bowel atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Spain
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.0,Ireland
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Portugal
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,14.5,Italy
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,22.0,Reunion
1201,Small bowel atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Switzerland
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Austria
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,14.0,Germany
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,19.0,Denmark
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,12.0,Malta
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,18.0,France
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,18.0,United Kingdom
1201,Small bowel atresia,Prevalence at birth,Value and class,1-5 / 10 000,15.0,Belgium
1201,Small bowel atresia,Point prevalence,Class only,Unknown,0.0,Europe
171844,Blindness-scoliosis-arachnodactyly syndrome,Cases/families,Case(s),,4.0,Worldwide
171844,Blindness-scoliosis-arachnodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171839,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,Cases/families,Case(s),,2.0,Worldwide
171839,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1202,Larynx atresia,Point prevalence,Class only,Unknown,0.0,Worldwide
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,24.3,Europe
1199,Esophageal atresia,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,19.5,Austria
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,17.5,Belgium
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Croatia
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,42.5,Denmark
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.8,France
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,23.8,Germany
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,26.6,Hungary
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,10.8,Ireland
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,18.4,Italy
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,24.9,Malta
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,17.1,Netherlands
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,34.4,Norway
1199,Esophageal atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.7,Poland
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,18.9,Portugal
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,15.7,Spain
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,25.1,Switzerland
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,22.4,United Kingdom
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,22.3,Ukraine
1199,Esophageal atresia,Prevalence at birth,Value and class,1-5 / 10 000,21.0,United States
171851,MEDNIK syndrome,Cases/families,Family(ies),,5.0,Worldwide
171851,MEDNIK syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,Cases/families,Case(s),,19.0,Worldwide
171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.09,Europe
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.03,France
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Austria
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.05,Germany
1304,Brucellosis,Annual incidence,Value and class,1-9 / 100 000,1.13,Greece
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.03,Ireland
1304,Brucellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Italy
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.01,Lithuania
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.03,Luxembourg
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.05,Malta
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.05,Norway
1304,Brucellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Portugal
1304,Brucellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Spain
1304,Brucellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Sweden
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.02,United Kingdom
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.01,Romania
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Slovakia
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Slovenia
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Netherlands
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.01,Poland
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Belgium
1304,Brucellosis,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Bulgaria
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Croatia
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.004,Czech Republic
1304,Brucellosis,Annual incidence,Value and class,<1 / 1 000 000,0.008,Finland
173,Cholera,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
173,Cholera,Point prevalence,Class only,<1 / 1 000 000,0.0,United States
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,United Kingdom
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Germany
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Austria
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Belgium
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Czech Republic
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Denmark
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,France
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Norway
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Spain
173,Cholera,Annual incidence,Class only,<1 / 1 000 000,0.0,Sweden
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,34.0,Worldwide
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,29.3,Europe
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,39.3,Austria
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,40.8,Belgium
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Croatia
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,39.7,Denmark
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,13.8,France
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,11.9,Germany
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,34.3,Hungary
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,14.5,Ireland
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,26.8,Italy
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,48.2,Malta
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,29.2,Netherlands
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,31.1,Norway
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,16.2,Poland
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,23.7,Portugal
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,6-9 / 10 000,63.0,"Taiwan, Province of China"
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,11.9,Spain
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,25.1,Switzerland
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,32.0,United Kingdom
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,25.4,Ukraine
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,47.0,United States
3303,Tetralogy of Fallot,Prevalence at birth,Value and class,1-5 / 10 000,40.0,China
3303,Tetralogy of Fallot,Point prevalence,Class only,Unknown,0.0,Worldwide
3303,Tetralogy of Fallot,Point prevalence,Class only,Unknown,0.0,Europe
200418,Immunodeficiency with factor I anomaly,Cases/families,Family(ies),,35.0,Worldwide
200418,Immunodeficiency with factor I anomaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
730,Autosomal dominant polycystic kidney disease,Point prevalence,Value and class,1-5 / 10 000,39.6,Europe
486,Autosomal dominant severe congenital neutropenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.5625,Europe
1209,Tricuspid atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.9,Belgium
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,France
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Germany
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-5 / 10 000,10.5,Ireland
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,6.5,Italy
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Netherlands
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Norway
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Poland
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Spain
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.1,Portugal
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Switzerland
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.0,United Kingdom
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.7,Ukraine
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,4.6,"Taiwan, Province of China"
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Malta
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,6.0,Czech Republic
1209,Tricuspid atresia,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Slovakia
98,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,Point prevalence,Class only,Unknown,0.0,Worldwide
98,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,Prevalence at birth,Value and class,6-9 / 10 000,51.76,Specific population
1478,Interatrial communication,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
1478,Interatrial communication,Point prevalence,Value and class,1-5 / 10 000,3.0,Worldwide
330,Congenital factor XII deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
1482,Gonococcal conjunctivitis,Prevalence at birth,Value and class,1-5 / 10 000,30.0,United States
1482,Gonococcal conjunctivitis,Point prevalence,Class only,Unknown,0.0,Worldwide
1959,Evans syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
284,Alveolar echinococcosis,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Europe
284,Alveolar echinococcosis,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Switzerland
284,Alveolar echinococcosis,Annual incidence,Value and class,<1 / 1 000 000,0.014,Poland
284,Alveolar echinococcosis,Annual incidence,Value and class,1-9 / 100 000,2.8,Austria
284,Alveolar echinococcosis,Annual incidence,Value and class,<1 / 1 000 000,0.026,France
284,Alveolar echinococcosis,Point prevalence,Class only,Unknown,0.0,Europe
1177,Early-onset cerebellar ataxia with retained tendon reflexes,Prevalence at birth,Value and class,1-9 / 100 000,2.08,Italy
1177,Early-onset cerebellar ataxia with retained tendon reflexes,Point prevalence,Value and class,1-9 / 100 000,1.0,Italy
1177,Early-onset cerebellar ataxia with retained tendon reflexes,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
828,Stickler syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
828,Stickler syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
828,Stickler syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,France
828,Stickler syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,France
828,Stickler syndrome,Prevalence at birth,Value and class,1-5 / 10 000,12.2,Worldwide
1431,Paroxysmal dyskinesia,Point prevalence,Class only,Unknown,0.0,Worldwide
199340,BAG3-related myofibrillar myopathy,Cases/families,Case(s),,12.0,Worldwide
199340,BAG3-related myofibrillar myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293,Congenital herpes simplex virus infection,Annual incidence,Value and class,1-9 / 100 000,6.6,Sweden
293,Congenital herpes simplex virus infection,Point prevalence,Class only,Unknown,0.0,Worldwide
293,Congenital herpes simplex virus infection,Annual incidence,Value and class,1-9 / 100 000,1.6,United Kingdom
199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,Cases/families,Case(s),,5.0,Worldwide
199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
234,Dubin-Johnson syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
199348,Thiamine-responsive encephalopathy,Cases/families,Case(s),,2.0,Worldwide
199348,Thiamine-responsive encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3287,Takayasu arteritis,Annual incidence,Value and class,<1 / 1 000 000,0.084,Europe
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 100 000,1.34,Europe
3287,Takayasu arteritis,Annual incidence,Value and class,<1 / 1 000 000,0.06,United Kingdom
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 100 000,4.0,Japan
3287,Takayasu arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Sweden
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 1 000 000,0.98,Sweden
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 1 000 000,0.47,United Kingdom
3287,Takayasu arteritis,Annual incidence,Value and class,<1 / 1 000 000,0.04,Denmark
3287,Takayasu arteritis,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
3287,Takayasu arteritis,Annual incidence,Value and class,<1 / 1 000 000,0.07,Germany
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 1 000 000,0.78,Kuwait
3287,Takayasu arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Japan
3287,Takayasu arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Lithuania
3287,Takayasu arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Kuwait
3287,Takayasu arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.26,United States
3287,Takayasu arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Norway
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 100 000,2.56,Norway
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 100 000,2.82,"Korea, Republic of"
3287,Takayasu arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.24,"Korea, Republic of"
3287,Takayasu arteritis,Point prevalence,Value and class,1-9 / 1 000 000,0.46,Poland
3287,Takayasu arteritis,Annual incidence,Value and class,<1 / 1 000 000,0.092,Poland
199343,EAST syndrome,Cases/families,Case(s),,26.0,Worldwide
199343,EAST syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2800,Extramammary Paget disease,Point prevalence,Class only,Unknown,0.0,Worldwide
199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",Cases/families,Case(s),,21.0,Worldwide
199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1928,Congenital lobar emphysema,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Worldwide
1928,Congenital lobar emphysema,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
199332,Endocrine-cerebro-osteodysplasia syndrome,Cases/families,Case(s),,7.0,Worldwide
199332,Endocrine-cerebro-osteodysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
199329,"Congenital myopathy, Paradas type",Cases/families,Case(s),,2.0,Worldwide
199329,"Congenital myopathy, Paradas type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3463,Wolfram syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
3463,Wolfram syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.12,India
3463,Wolfram syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Worldwide
3463,Wolfram syndrome,Point prevalence,Value and class,1-9 / 100 000,1.83,Specific population
3463,Wolfram syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Japan
3463,Wolfram syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.62,Europe
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.4,Europe
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,2.5,France
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.82,Austria
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.38,Belgium
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.8,Croatia
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.42,Cyprus
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.24,Czech Republic
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,3.18,Denmark
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.84,Estonia
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Finland
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.18,Germany
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Greece
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Hungary
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.83,Iceland
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.28,Ireland
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,2.72,Italy
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.5,Latvia
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.28,Lithuania
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.02,Luxembourg
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.88,Malta
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,2.48,Netherlands
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.96,Norway
549,Legionnaires disease,Annual incidence,Value and class,<1 / 1 000 000,0.06,Poland
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,2.42,Portugal
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Slovakia
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,4.38,Slovenia
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,2.16,Spain
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,1.52,Sweden
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 1 000 000,0.62,United Kingdom
549,Legionnaires disease,Annual incidence,Value and class,<1 / 1 000 000,0.02,Romania
549,Legionnaires disease,Annual incidence,Value and class,1-9 / 100 000,5.4,New Zealand
704,Pemphigus vulgaris,Annual incidence,Value and class,1-9 / 1 000 000,0.13,France
704,Pemphigus vulgaris,Point prevalence,Value and class,1-5 / 10 000,18.0,Europe
704,Pemphigus vulgaris,Annual incidence,Value and class,1-9 / 1 000 000,0.7,United Kingdom
704,Pemphigus vulgaris,Annual incidence,Value and class,<1 / 1 000 000,0.076,Finland
704,Pemphigus vulgaris,Annual incidence,Value and class,1-9 / 1 000 000,0.47,Bulgaria
704,Pemphigus vulgaris,Annual incidence,Value and class,1-9 / 1 000 000,0.42,United States
704,Pemphigus vulgaris,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Tunisia
704,Pemphigus vulgaris,Point prevalence,Value and class,1-9 / 100 000,9.482,Germany
199354,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
199351,Adult-onset dystonia-parkinsonism,Cases/families,Case(s),,14.0,Worldwide
199351,Adult-onset dystonia-parkinsonism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
356,Gerstmann-Straussler-Scheinker syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
356,Gerstmann-Straussler-Scheinker syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.0055,Worldwide
466,Fatal familial insomnia,Cases/families,Case(s),,27.0,Worldwide
466,Fatal familial insomnia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
199293,Congenital microgastria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3452,Whipple disease,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
3452,Whipple disease,Point prevalence,Class only,Unknown,0.0,Worldwide
3452,Whipple disease,Point prevalence,Value and class,1-9 / 1 000 000,0.29,Italy
3452,Whipple disease,Point prevalence,Value and class,1-9 / 1 000 000,0.98,United States
199282,Harlequin syndrome,Cases/families,Case(s),,100.0,Worldwide
199282,Harlequin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
199285,Hereditary hypercarotenemia and vitamin A deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2331,Kawasaki disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2102,GTP cyclohydrolase I deficiency,Cases/families,Case(s),,16.0,Worldwide
2102,GTP cyclohydrolase I deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3002,Immune thrombocytopenia,Point prevalence,Value and class,1-5 / 10 000,25.0,Europe
3002,Immune thrombocytopenia,Point prevalence,Value and class,1-9 / 100 000,9.5,United States
3002,Immune thrombocytopenia,Annual incidence,Value and class,1-9 / 100 000,3.9,United Kingdom
3002,Immune thrombocytopenia,Annual incidence,Value and class,1-9 / 100 000,6.75,Europe
3002,Immune thrombocytopenia,Annual incidence,Value and class,1-9 / 100 000,2.68,Denmark
3002,Immune thrombocytopenia,Point prevalence,Value and class,1-5 / 10 000,45.0,Denmark
3002,Immune thrombocytopenia,Annual incidence,Value and class,1-9 / 100 000,2.9,France
199267,Infantile digital fibromatosis,Cases/families,Case(s),,200.0,Worldwide
199267,Infantile digital fibromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2040,Congenital respiratory-biliary fistula,Cases/families,Case(s),,35.0,Worldwide
2040,Congenital respiratory-biliary fistula,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
199318,15q13.3 microdeletion syndrome,Point prevalence,Class only,1-9 / 100 000,2.5,Worldwide
199318,15q13.3 microdeletion syndrome,Cases/families,Case(s),,264.0,Worldwide
199318,15q13.3 microdeletion syndrome,Prevalence at birth,Value and class,1-5 / 10 000,0.018,United States
199318,15q13.3 microdeletion syndrome,Prevalence at birth,Value and class,1-5 / 10 000,0.04,Norway
2357,Bronchogenic cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
274,Bernard-Soulier syndrome,Cases/families,Case(s),,100.0,Worldwide
274,Bernard-Soulier syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1195,Congenital atransferrinemia,Cases/families,Case(s),,16.0,Worldwide
1195,Congenital atransferrinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
199302,Isolated cleft lip,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
199306,Cleft lip/palate,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
199306,Cleft lip/palate,Prevalence at birth,Value and class,1-5 / 10 000,56.0,United States
199306,Cleft lip/palate,Prevalence at birth,Value and class,6-9 / 10 000,98.0,France
199306,Cleft lip/palate,Prevalence at birth,Value and class,6-9 / 10 000,80.0,Worldwide
926,Acatalasemia,Point prevalence,Value and class,1-9 / 100 000,3.2,Europe
3020,Ramsay Hunt syndrome,Annual incidence,Value and class,1-9 / 100 000,5.0,United States
3020,Ramsay Hunt syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1531,Craniosynostosis,Prevalence at birth,Value and class,1-5 / 10 000,24.3,Europe
1531,Craniosynostosis,Prevalence at birth,Value and class,1-5 / 10 000,47.6,France
1531,Craniosynostosis,Prevalence at birth,Value and class,1-5 / 10 000,49.4,Australia
1531,Craniosynostosis,Prevalence at birth,Value and class,1-5 / 10 000,43.0,United States
1531,Craniosynostosis,Point prevalence,Class only,Unknown,0.0,Worldwide
1675,Dihydropyrimidine dehydrogenase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
189427,Cushing syndrome due to bilateral macronodular adrenocortical disease,Point prevalence,Value and class,<1 / 1 000 000,0.08,Europe
976,Adenine phosphoribosyltransferase deficiency,Point prevalence,Value and class,1-9 / 100 000,1.5,Specific population
976,Adenine phosphoribosyltransferase deficiency,Point prevalence,Value and class,1-9 / 100 000,3.7,Japan
976,Adenine phosphoribosyltransferase deficiency,Point prevalence,Value and class,1-9 / 100 000,6.7,Iceland
976,Adenine phosphoribosyltransferase deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
3129,Sarcosinemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.28,United States
3129,Sarcosinemia,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Worldwide
3129,Sarcosinemia,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
3129,Sarcosinemia,Prevalence at birth,Value and class,1-9 / 100 000,2.3,Specific population
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,Cases/families,Case(s),,111.0,Worldwide
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,Prevalence at birth,Class only,<1 / 1 000 000,0.0,United States
13,6-pyruvoyl-tetrahydropterin synthase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
13,6-pyruvoyl-tetrahydropterin synthase deficiency,Prevalence at birth,Class only,<1 / 1 000 000,0.0,Europe
13,6-pyruvoyl-tetrahydropterin synthase deficiency,Prevalence at birth,Value and class,<1 / 1 000 000,0.0854,Brazil
13,6-pyruvoyl-tetrahydropterin synthase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3094,China
13,6-pyruvoyl-tetrahydropterin synthase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.5258,Hong Kong
2494,Ménétrier disease,Point prevalence,Class only,Unknown,0.0,Worldwide
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 1 000 000,0.77,Europe
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 100 000,7.84,Europe
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 100 000,8.1,Worldwide
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 1 000 000,0.65,Worldwide
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 1 000 000,0.77,United States
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 100 000,8.81,United States
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 100 000,1.3,Norway
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 100 000,8.5,Norway
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 100 000,1.22,Sweden
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-5 / 10 000,16.2,Sweden
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 1 000 000,0.66,United Kingdom
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 100 000,8.28,United Kingdom
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Netherlands
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 100 000,6.0,Netherlands
171,Primary sclerosing cholangitis,Annual incidence,Value and class,1-9 / 1 000 000,0.9,Canada
171,Primary sclerosing cholangitis,Annual incidence,Value and class,<1 / 1 000 000,0.07,Spain
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 1 000 000,0.22,Spain
171,Primary sclerosing cholangitis,Point prevalence,Value and class,1-9 / 100 000,1.3,Singapore
199247,Corticosteroid-binding globulin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
199241,Pulmonary capillary hemangiomatosis,Cases/families,Case(s),,100.0,Worldwide
199241,Pulmonary capillary hemangiomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2134,Atypical hemolytic uremic syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.2,United States
2134,Atypical hemolytic uremic syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
2134,Atypical hemolytic uremic syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.0278,China
17,Fatal infantile lactic acidosis with methylmalonic aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.13,United Kingdom
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.25,Netherlands
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Germany
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
780,Rhabdomyosarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.59,Europe
780,Rhabdomyosarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
3111,Rotor syndrome,Cases/families,Case(s),,50.0,Worldwide
3111,Rotor syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2382,Lennox-Gastaut syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
2382,Lennox-Gastaut syndrome,Point prevalence,Value and class,1-5 / 10 000,15.0,Europe
2806,Subacute sclerosing leukoencephalitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2806,Subacute sclerosing leukoencephalitis,Annual incidence,Value and class,<1 / 1 000 000,0.003,United States
2806,Subacute sclerosing leukoencephalitis,Annual incidence,Value and class,1-9 / 100 000,2.0,India
2467,Systemic mastocytosis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Italy
2467,Systemic mastocytosis,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
2467,Systemic mastocytosis,Annual incidence,Value and class,1-9 / 1 000 000,0.9,Denmark
2467,Systemic mastocytosis,Point prevalence,Value and class,1-9 / 100 000,9.6,Denmark
2467,Systemic mastocytosis,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Europe
2467,Systemic mastocytosis,Point prevalence,Value and class,1-5 / 10 000,13.0,Netherlands
2467,Systemic mastocytosis,Point prevalence,Value and class,1-5 / 10 000,11.3,Europe
1934,Early infantile developmental and epileptic encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Japan
1934,Early infantile developmental and epileptic encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,2.0,United Kingdom
1934,Early infantile developmental and epileptic encephalopathy,Point prevalence,Class only,Unknown,0.0,Europe
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-5 / 10 000,27.8,Specific population
845,Tay-Sachs disease,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Specific population
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.31,Europe
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 100 000,3.13,Portugal
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Czech Republic
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Australia
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.28,Worldwide
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.41,Netherlands
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.29,Canada
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.74,United Arab Emirates
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.23,Turkey
845,Tay-Sachs disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.48,Sweden
845,Tay-Sachs disease,Point prevalence,Class only,Unknown,0.0,Europe
845,Tay-Sachs disease,Point prevalence,Class only,Unknown,0.0,Worldwide
1942,Epilepsy with myoclonic-atonic seizures,Point prevalence,Class only,Unknown,0.0,Worldwide
1943,Early-onset progressive encephalopathy with migrant continuous myoclonus,Cases/families,Case(s),,3.0,Worldwide
1943,Early-onset progressive encephalopathy with migrant continuous myoclonus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.014,France
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.024,Europe
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.044,Malta
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.01,Slovakia
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.014,Bulgaria
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.028,Croatia
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.004,Czech Republic
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.014,Denmark
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.032,Estonia
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.036,Greece
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.024,Hungary
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.016,Ireland
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.076,Italy
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.07,Lithuania
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.008,Netherlands
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.012,Norway
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.032,Poland
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.008,Portugal
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.032,Romania
3299,Tetanus,Annual incidence,Value and class,1-9 / 1 000 000,0.118,Slovenia
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.016,Spain
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.02,Sweden
3299,Tetanus,Annual incidence,Value and class,<1 / 1 000 000,0.01,United Kingdom
3299,Tetanus,Point prevalence,Class only,Unknown,0.0,Europe
2302,Asbestos intoxication,Point prevalence,Class only,Unknown,0.0,Worldwide
770,Rabies,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
770,Rabies,Point prevalence,Class only,<1 / 1 000 000,0.0,United States
770,Rabies,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
3386,American trypanosomiasis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
3386,American trypanosomiasis,Point prevalence,Class only,1-9 / 1 000 000,0.0,France
3386,American trypanosomiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Germany
3386,American trypanosomiasis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Italy
3386,American trypanosomiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Netherlands
3386,American trypanosomiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Portugal
3386,American trypanosomiasis,Point prevalence,Class only,1-9 / 100 000,0.0,Spain
3386,American trypanosomiasis,Point prevalence,Class only,1-9 / 100 000,0.0,Switzerland
3386,American trypanosomiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,United Kingdom
3386,American trypanosomiasis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Belgium
3386,American trypanosomiasis,Point prevalence,Value and class,6-9 / 10 000,95.0,United States
267,Calpain-3-related limb-girdle muscular dystrophy R1,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
267,Calpain-3-related limb-girdle muscular dystrophy R1,Point prevalence,Value and class,1-9 / 1 000 000,0.6,United Kingdom
267,Calpain-3-related limb-girdle muscular dystrophy R1,Point prevalence,Value and class,1-9 / 100 000,4.8,Reunion
267,Calpain-3-related limb-girdle muscular dystrophy R1,Point prevalence,Value and class,1-9 / 100 000,1.65,Italy
1329,Complete atrioventricular septal defect,Point prevalence,Class only,Unknown,0.0,Worldwide
1329,Complete atrioventricular septal defect,Prevalence at birth,Value and class,1-5 / 10 000,20.0,Europe
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,Sweden
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.76,Norway
582,Mucopolysaccharidosis type 4,Point prevalence,Value and class,1-5 / 10 000,24.2,Norway
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.48,Denmark
582,Mucopolysaccharidosis type 4,Point prevalence,Value and class,1-5 / 10 000,31.0,Denmark
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.73,Czech Republic
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.45,Tunisia
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.33,"Taiwan, Province of China"
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.45,Europe
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.36,Netherlands
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.14,Poland
582,Mucopolysaccharidosis type 4,Point prevalence,Value and class,1-5 / 10 000,27.6,Europe
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.15,Japan
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Switzerland
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 100 000,3.62,Saudi Arabia
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.13,"Korea, Republic of"
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.14,Brazil
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Portugal
582,Mucopolysaccharidosis type 4,Point prevalence,Value and class,<1 / 1 000 000,0.038,United States
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,1-9 / 1 000 000,0.14,United States
582,Mucopolysaccharidosis type 4,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,Worldwide
2137,Autoimmune hepatitis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
2137,Autoimmune hepatitis,Annual incidence,Value and class,1-9 / 100 000,1.2,Worldwide
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,23.5,Worldwide
2137,Autoimmune hepatitis,Annual incidence,Value and class,1-9 / 1 000 000,0.75,Europe
2137,Autoimmune hepatitis,Annual incidence,Value and class,1-9 / 100 000,1.9,Norway
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,16.9,Norway
2137,Autoimmune hepatitis,Annual incidence,Value and class,1-9 / 1 000 000,0.85,Sweden
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,24.5,New Zealand
2137,Autoimmune hepatitis,Annual incidence,Value and class,1-9 / 1 000 000,0.95,Spain
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,11.6,Spain
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,10.7,Sweden
2137,Autoimmune hepatitis,Annual incidence,Value and class,1-9 / 1 000 000,0.67,Israel
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,11.0,Israel
2137,Autoimmune hepatitis,Annual incidence,Value and class,1-9 / 100 000,1.68,Denmark
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,23.9,Denmark
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-9 / 100 000,4.0,Singapore
2137,Autoimmune hepatitis,Point prevalence,Value and class,1-5 / 10 000,42.9,Specific population
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,2.57,Europe
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,21.05,Worldwide
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,3.0,Worldwide
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,25.0,Europe
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 1 000 000,0.9,France
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,1.7,Spain
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,19.5,Spain
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,2.5,Iceland
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,38.3,Iceland
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,1.1,Netherlands
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,13.2,Netherlands
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,1.7,Denmark
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,12.0,Denmark
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,1.7,Finland
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,18.0,Finland
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,25.0,United Kingdom
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,4.5,United States
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,40.2,United States
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,3.0,Canada
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,22.7,Canada
186,Primary biliary cholangitis,Point prevalence,Value and class,1-9 / 100 000,5.1,Australia
186,Primary biliary cholangitis,Point prevalence,Value and class,1-9 / 100 000,5.5,Israel
186,Primary biliary cholangitis,Point prevalence,Value and class,1-9 / 100 000,4.9,China
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,1.0,Brunei Darussalam
186,Primary biliary cholangitis,Point prevalence,Value and class,1-9 / 100 000,2.6,Brunei Darussalam
186,Primary biliary cholangitis,Point prevalence,Value and class,1-5 / 10 000,36.5,Greece
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,2.1,Greece
186,Primary biliary cholangitis,Annual incidence,Value and class,1-9 / 100 000,2.3,United Kingdom
397,Giant cell arteritis,Point prevalence,Value and class,1-9 / 100 000,8.9,Germany
397,Giant cell arteritis,Annual incidence,Value and class,1-9 / 1 000 000,0.35,United States
397,Giant cell arteritis,Annual incidence,Value and class,1-9 / 100 000,2.8,Italy
397,Giant cell arteritis,Annual incidence,Value and class,1-9 / 100 000,7.7,Sweden
397,Giant cell arteritis,Annual incidence,Value and class,1-5 / 10 000,11.2,United Kingdom
397,Giant cell arteritis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
397,Giant cell arteritis,Point prevalence,Value and class,1-5 / 10 000,30.4,Italy
397,Giant cell arteritis,Annual incidence,Value and class,1-5 / 10 000,16.8,Norway
2932,Chronic inflammatory demyelinating polyneuropathy,Point prevalence,Value and class,1-9 / 100 000,3.7,Europe
2932,Chronic inflammatory demyelinating polyneuropathy,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Italy
2932,Chronic inflammatory demyelinating polyneuropathy,Point prevalence,Value and class,1-9 / 100 000,2.6,United Kingdom
2932,Chronic inflammatory demyelinating polyneuropathy,Point prevalence,Value and class,1-9 / 100 000,3.86,Italy
2932,Chronic inflammatory demyelinating polyneuropathy,Point prevalence,Value and class,1-9 / 100 000,7.7,Norway
2932,Chronic inflammatory demyelinating polyneuropathy,Point prevalence,Value and class,1-5 / 10 000,12.0,Egypt
2932,Chronic inflammatory demyelinating polyneuropathy,Annual incidence,Value and class,1-9 / 1 000 000,0.48,Japan
2932,Chronic inflammatory demyelinating polyneuropathy,Point prevalence,Value and class,1-9 / 100 000,1.61,Japan
2932,Chronic inflammatory demyelinating polyneuropathy,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Australia
2932,Chronic inflammatory demyelinating polyneuropathy,Point prevalence,Value and class,1-9 / 100 000,1.9,Australia
2398,Multiple symmetric lipomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2398,Multiple symmetric lipomatosis,Point prevalence,Value and class,1-9 / 100 000,2.0,Italy
1656,Dermatitis herpetiformis,Point prevalence,Value and class,1-5 / 10 000,27.0,Europe
1656,Dermatitis herpetiformis,Annual incidence,Value and class,1-9 / 1 000 000,0.9,Italy
1656,Dermatitis herpetiformis,Annual incidence,Value and class,1-9 / 100 000,1.5,Ireland
1656,Dermatitis herpetiformis,Point prevalence,Value and class,1-5 / 10 000,17.6,Ireland
1656,Dermatitis herpetiformis,Annual incidence,Value and class,1-9 / 100 000,1.1,Sweden
1656,Dermatitis herpetiformis,Point prevalence,Value and class,1-5 / 10 000,21.0,Sweden
1656,Dermatitis herpetiformis,Annual incidence,Value and class,1-9 / 1 000 000,0.98,United States
1656,Dermatitis herpetiformis,Point prevalence,Value and class,1-5 / 10 000,11.2,United States
1656,Dermatitis herpetiformis,Annual incidence,Value and class,1-9 / 100 000,3.5,Finland
1656,Dermatitis herpetiformis,Point prevalence,Value and class,6-9 / 10 000,75.3,Finland
1656,Dermatitis herpetiformis,Point prevalence,Value and class,1-5 / 10 000,11.5,United Kingdom
3198,Stiff person spectrum disorder,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
3198,Stiff person spectrum disorder,Point prevalence,Value and class,1-9 / 1 000 000,0.15,United Kingdom
3198,Stiff person spectrum disorder,Point prevalence,Value and class,<1 / 1 000 000,0.09,"Tanzania, United Republic of"
2929,Juvenile polyposis syndrome,Annual incidence,Value and class,1-9 / 100 000,3.85,Europe
2929,Juvenile polyposis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
131,Budd-Chiari syndrome,Point prevalence,Value and class,1-9 / 100 000,1.5,Europe
131,Budd-Chiari syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.08,Sweden
131,Budd-Chiari syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.14,Sweden
131,Budd-Chiari syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.05,Denmark
131,Budd-Chiari syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.02,Japan
131,Budd-Chiari syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Japan
131,Budd-Chiari syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.04,France
131,Budd-Chiari syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.21,Italy
131,Budd-Chiari syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.087,"Korea, Republic of"
131,Budd-Chiari syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.529,"Korea, Republic of"
131,Budd-Chiari syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Worldwide
131,Budd-Chiari syndrome,Point prevalence,Value and class,1-9 / 100 000,1.1,Worldwide
646,Niemann-Pick disease type C,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.77,France
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,United Kingdom
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Germany
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.35,Netherlands
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Portugal
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.47,Australia
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.91,Czech Republic
646,Niemann-Pick disease type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.48,Sweden
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Europe
654,Nephroblastoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
654,Nephroblastoma,Lifetime Prevalence,Value and class,1-9 / 100 000,3.65,Europe
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.144,United Kingdom
654,Nephroblastoma,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Europe
654,Nephroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.072,Bulgaria
654,Nephroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.006,Czech Republic
654,Nephroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.089,Germany
654,Nephroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
654,Nephroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.065,Latvia
654,Nephroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.066,Portugal
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.121,Austria
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.195,Belgium
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.155,Croatia
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.139,Estonia
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.158,Finland
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Ireland
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.111,Italy
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Lithuania
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.157,Malta
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.131,Norway
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.111,Poland
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.162,Slovakia
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.144,Slovenia
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.113,Spain
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.135,Switzerland
654,Nephroblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.176,Netherlands
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,8.9,Europe
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,9.76,Austria
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,10.08,Belgium
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,1.08,Bulgaria
1489,Whooping cough,Annual incidence,Value and class,1-9 / 1 000 000,0.88,Cyprus
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,10.7,Czech Republic
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,19.16,Denmark
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,4.66,Estonia
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,5.1,Finland
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,15.4,Germany
1489,Whooping cough,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Greece
1489,Whooping cough,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Hungary
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,2.34,Croatia
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,5.3,Iceland
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,3.58,Ireland
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,1.2,Italy
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,8.48,Latvia
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,2.22,Lithuania
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,2.14,Luxembourg
1489,Whooping cough,Annual incidence,Value and class,1-9 / 1 000 000,0.52,Malta
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,31.72,Netherlands
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,47.24,Norway
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,10.6,Poland
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,2.1,Portugal
1489,Whooping cough,Annual incidence,Value and class,1-9 / 1 000 000,0.42,Romania
1489,Whooping cough,Annual incidence,Value and class,1-5 / 10 000,10.5,Slovakia
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,9.5,Slovenia
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,8.3,Spain
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,6.2,Sweden
1489,Whooping cough,Annual incidence,Value and class,1-9 / 100 000,8.5,United Kingdom
2764,Osteochondritis dissecans,Point prevalence,Value and class,1-5 / 10 000,35.0,Europe
2587,Myeloperoxidase deficiency,Cases/families,Case(s),,18.0,Worldwide
2587,Myeloperoxidase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,4.0,Greece
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,5.0,Iceland
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,6.0,Israel
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,15.0,Spain
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,24.0,Portugal
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,8.0,Belgium
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,4.0,Austria
3389,Tuberculosis,Annual incidence,Value and class,6-9 / 10 000,90.0,Algeria
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,23.0,Poland
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,42.0,Latvia
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,59.0,Lithuania
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,49.0,Bosnia and Herzegovina
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,17.0,Croatia
3389,Tuberculosis,Annual incidence,Value and class,>1 / 1000,101.0,Romania
3389,Tuberculosis,Annual incidence,Value and class,6-9 / 10 000,97.0,Russian Federation
3389,Tuberculosis,Annual incidence,Value and class,>1 / 1000,139.0,Worldwide
3389,Tuberculosis,Point prevalence,Value and class,1-5 / 10 000,16.0,Europe
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,3.4,United States
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,20.0,Japan
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,6.0,Australia
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,4.0,France
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,8.0,Finland
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,18.0,Hungary
3389,Tuberculosis,Annual incidence,Value and class,>1 / 1000,181.0,India
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,7.0,Netherlands
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,14.0,United Kingdom
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,6.0,Norway
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,7.0,Sweden
3389,Tuberculosis,Annual incidence,Value and class,6-9 / 10 000,75.0,China
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,47.0,Latin America
3389,Tuberculosis,Annual incidence,Value and class,>1 / 1000,993.0,South Africa
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,7.1,Denmark
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,6.0,Czech Republic
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,5.0,Germany
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,10.7,Ireland
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,3.0,Italy
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,25.0,Estonia
3389,Tuberculosis,Annual incidence,Value and class,1-5 / 10 000,24.0,Turkey
3389,Tuberculosis,Annual incidence,Value and class,6-9 / 10 000,89.0,Ukraine
3389,Tuberculosis,Annual incidence,Value and class,1-9 / 100 000,9.0,Europe
1679,Diphtheria,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.022,Europe
1267,Botulism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1267,Botulism,Annual incidence,Value and class,1-9 / 1 000 000,0.255,France
1267,Botulism,Annual incidence,Value and class,1-9 / 1 000 000,0.35,United States
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.026,Austria
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.006,Belgium
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.028,Bulgaria
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.04,Croatia
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.01,Czech Republic
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.024,Denmark
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.012,Finland
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.006,Germany
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.052,Hungary
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.012,Ireland
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.052,Italy
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.086,Lithuania
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.002,Netherlands
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.038,Poland
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.018,Portugal
1267,Botulism,Annual incidence,Value and class,1-9 / 1 000 000,0.104,Romania
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.02,Slovenia
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.004,Spain
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.01,Sweden
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.008,United Kingdom
1267,Botulism,Annual incidence,Value and class,<1 / 1 000 000,0.098,Norway
2897,Pityriasis rubra pilaris,Cases/families,Case(s),,48.0,Worldwide
2897,Pityriasis rubra pilaris,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
2103,Guillain-Barré syndrome,Annual incidence,Value and class,1-9 / 100 000,1.45,Worldwide
2103,Guillain-Barré syndrome,Annual incidence,Value and class,1-9 / 100 000,1.72,United States
2103,Guillain-Barré syndrome,Point prevalence,Value and class,1-9 / 100 000,3.5,Europe
2103,Guillain-Barré syndrome,Point prevalence,Value and class,1-5 / 10 000,25.0,Denmark
2103,Guillain-Barré syndrome,Annual incidence,Value and class,1-9 / 100 000,1.4,Europe
2103,Guillain-Barré syndrome,Point prevalence,Value and class,1-5 / 10 000,12.0,Egypt
2103,Guillain-Barré syndrome,Annual incidence,Value and class,1-9 / 100 000,2.42,France
183669,Agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Europe
183669,Agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.287,France
183669,Agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.134,Spain
183669,Agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.192,Netherlands
183669,Agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.045,Turkey
183669,Agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.094,United Kingdom
183669,Agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.205,Italy
183669,Agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.077,Germany
183669,Agammaglobulinemia,Point prevalence,Value and class,<1 / 1 000 000,0.071,Poland
2070,Eosinophilic gastroenteritis,Cases/families,Case(s),,280.0,Worldwide
2070,Eosinophilic gastroenteritis,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2070,Eosinophilic gastroenteritis,Point prevalence,Value and class,1-9 / 100 000,8.4,Worldwide
2312,Transient familial neonatal hyperbilirubinemia,Point prevalence,Class only,Not yet documented,0.0,Worldwide
183707,Infantile LAD-like disease due to RAC2 deficiency,Cases/families,Case(s),,2.0,Worldwide
183707,Infantile LAD-like disease due to RAC2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2314,Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
2314,Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
183678,Hermansky-Pudlak syndrome due to AP-3 deficiency,Cases/families,Case(s),,40.0,Worldwide
183678,Hermansky-Pudlak syndrome due to AP-3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Austria
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.019,Belgium
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Bulgaria
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.042,Croatia
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Czech Republic
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.046,Estonia
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.031,Finland
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.021,Germany
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.043,Ireland
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.017,Italy
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.022,Latvia
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.004,Lithuania
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.031,Malta
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.033,Norway
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.023,Poland
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Portugal
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.032,Slovakia
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.025,Slovenia
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Spain
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.011,Switzerland
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.032,Netherlands
449,Hepatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.028,United Kingdom
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
2177,Hydranencephaly,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
2177,Hydranencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
2177,Hydranencephaly,Prevalence at birth,Value and class,1-9 / 100 000,2.1,Japan
2177,Hydranencephaly,Prevalence at birth,Value and class,1-9 / 100 000,2.8,United States
533,Listeriosis,Point prevalence,Class only,Unknown,0.0,Worldwide
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.43,Europe
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.337,Worldwide
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.31,United States
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.48,Austria
533,Listeriosis,Annual incidence,Value and class,1-9 / 100 000,1.07,Belgium
533,Listeriosis,Annual incidence,Value and class,<1 / 1 000 000,0.09,Bulgaria
533,Listeriosis,Annual incidence,Value and class,<1 / 1 000 000,0.05,Croatia
533,Listeriosis,Annual incidence,Value and class,<1 / 1 000 000,0.05,Cyprus
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Czech Republic
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.98,Denmark
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Estonia
533,Listeriosis,Annual incidence,Value and class,1-9 / 100 000,1.1,Finland
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.57,France
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.68,Germany
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Greece
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.28,Hungary
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.29,Ireland
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Italy
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.28,Latvia
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Lithuania
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Luxembourg
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Malta
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.47,Netherlands
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.23,Poland
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.29,Portugal
533,Listeriosis,Annual incidence,Value and class,<1 / 1 000 000,0.05,Romania
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.31,Slovakia
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.67,Slovenia
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.9,Spain
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.92,Sweden
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,United Kingdom
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.56,Iceland
533,Listeriosis,Annual incidence,Value and class,1-9 / 1 000 000,0.46,Norway
2372,Laryngocele,Annual incidence,Value and class,<1 / 1 000 000,0.4,Worldwide
2372,Laryngocele,Point prevalence,Class only,Unknown,0.0,Worldwide
2380,Legg-Calvé-Perthes disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2380,Legg-Calvé-Perthes disease,Annual incidence,Value and class,1-9 / 100 000,2.0,Worldwide
683,Progressive supranuclear palsy,Annual incidence,Value and class,1-9 / 100 000,0.65,Worldwide
683,Progressive supranuclear palsy,Point prevalence,Value and class,1-9 / 100 000,5.26,Worldwide
683,Progressive supranuclear palsy,Point prevalence,Value and class,1-5 / 10 000,14.0,Europe
683,Progressive supranuclear palsy,Point prevalence,Value and class,1-9 / 100 000,1.39,United States
683,Progressive supranuclear palsy,Point prevalence,Value and class,1-9 / 100 000,3.2,Italy
683,Progressive supranuclear palsy,Point prevalence,Value and class,1-5 / 10 000,14.0,Guadeloupe
683,Progressive supranuclear palsy,Point prevalence,Value and class,1-9 / 100 000,3.75,United Kingdom
683,Progressive supranuclear palsy,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Libyan Arab Jamahiriya
683,Progressive supranuclear palsy,Annual incidence,Value and class,1-9 / 1 000 000,0.63,United States
683,Progressive supranuclear palsy,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Australia
677,Pancreatoblastoma,Cases/families,Case(s),,60.0,Worldwide
677,Pancreatoblastoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
677,Pancreatoblastoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Bulgaria
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.013,Czech Republic
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Germany
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,Italy
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.016,Latvia
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.004,Lithuania
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Poland
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Portugal
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,Netherlands
677,Pancreatoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,United Kingdom
183660,Severe combined immunodeficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.65,Europe
183660,Severe combined immunodeficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.6,France
183660,Severe combined immunodeficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Greece
183660,Severe combined immunodeficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.75,Australia
183660,Severe combined immunodeficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.28,Chile
183660,Severe combined immunodeficiency,Prevalence at birth,Value and class,1-9 / 100 000,3.79,Costa rica
183660,Severe combined immunodeficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
183660,Severe combined immunodeficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.72,United States
183660,Severe combined immunodeficiency,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
897,Waardenburg-Shah syndrome,Cases/families,Case(s),,100.0,Worldwide
897,Waardenburg-Shah syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
808,Seckel syndrome,Cases/families,Case(s),,50.0,Worldwide
808,Seckel syndrome,Point prevalence,Value and class,1-5 / 10 000,10.0,Worldwide
808,Seckel syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
3027,Caudal regression syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3027,Caudal regression syndrome,Prevalence at birth,Class only,Unknown,0.0,Worldwide
3027,Caudal regression syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.75,Australia
676,Autosomal dominant hereditary chronic pancreatitis,Point prevalence,Value and class,1-9 / 1 000 000,0.3,France
676,Autosomal dominant hereditary chronic pancreatitis,Point prevalence,Value and class,1-9 / 1 000 000,0.57,Denmark
676,Autosomal dominant hereditary chronic pancreatitis,Point prevalence,Value and class,1-9 / 1 000 000,0.43,Europe
643,Giant axonal neuropathy,Cases/families,Family(ies),,50.0,Worldwide
643,Giant axonal neuropathy,Point prevalence,Class only,Unknown,0.0,Worldwide
634,Netherton syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
634,Netherton syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
140,Campomelic dysplasia,Point prevalence,Value and class,<1 / 1 000 000,3.0E-4,Worldwide
140,Campomelic dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,1.875,Worldwide
2828,Young-onset Parkinson disease,Point prevalence,Value and class,1-5 / 10 000,15.0,Europe
2828,Young-onset Parkinson disease,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
642,Hereditary sensory and autonomic neuropathy type 4,Point prevalence,Value and class,1-9 / 1 000 000,0.14,Japan
642,Hereditary sensory and autonomic neuropathy type 4,Point prevalence,Class only,Unknown,0.0,Worldwide
627,Nance-Horan syndrome,Cases/families,Case(s),,424.0,Worldwide
627,Nance-Horan syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
638,Neurofibromatosis-Noonan syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
326,Congenital factor V deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
526,Liddle syndrome,Cases/families,Family(ies),,72.0,Worldwide
526,Liddle syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
650,LCAT deficiency,Cases/families,Case(s),,125.0,Worldwide
650,LCAT deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
427,Familial hypoaldosteronism,Point prevalence,Class only,Unknown,0.0,Worldwide
215,Congenital stationary night blindness,Point prevalence,Class only,Unknown,0.0,Worldwide
342,Familial Mediterranean fever,Point prevalence,Value and class,>1 / 1000,175.0,Turkey
342,Familial Mediterranean fever,Point prevalence,Value and class,>1 / 1000,200.0,Armenia
342,Familial Mediterranean fever,Point prevalence,Value and class,1-9 / 100 000,2.5,Sweden
342,Familial Mediterranean fever,Point prevalence,Value and class,1-9 / 1 000 000,0.23,Japan
342,Familial Mediterranean fever,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
342,Familial Mediterranean fever,Annual incidence,Value and class,1-5 / 10 000,14.0,Specific population
180,Choroideremia,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
754,Androgen insensitivity syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.01,Netherlands
754,Androgen insensitivity syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
754,Androgen insensitivity syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.1,Denmark
754,Androgen insensitivity syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.04,Denmark
253,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
327,Congenital factor VII deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.33,Europe
183518,Hereditary ataxia,Point prevalence,Class only,Unknown,0.0,Worldwide
373,Simpson-Golabi-Behmel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
373,Simpson-Golabi-Behmel syndrome,Cases/families,Case(s),,250.0,Worldwide
403,Familial hyperaldosteronism type I,Point prevalence,Class only,Unknown,0.0,Worldwide
574,21q deletion syndrome,Cases/families,Case(s),,50.0,Worldwide
574,21q deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
653,Multiple endocrine neoplasia type 2,Point prevalence,Value and class,1-9 / 100 000,2.9,Europe
653,Multiple endocrine neoplasia type 2,Point prevalence,Value and class,1-9 / 100 000,1.25,Germany
146,Differentiated thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.25,Worldwide
146,Differentiated thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.0,Europe
146,Differentiated thyroid carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
1331,Familial prostate cancer,Annual incidence,Value and class,1-9 / 100 000,9.4,United States
157,Carnitine palmitoyltransferase II deficiency,Cases/families,Case(s),,300.0,Worldwide
157,Carnitine palmitoyltransferase II deficiency,Point prevalence,Value and class,1-9 / 100 000,5.0,Worldwide
157,Carnitine palmitoyltransferase II deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,United States
157,Carnitine palmitoyltransferase II deficiency,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
847,X-linked alpha-thalassemia-intellectual disability syndrome,Cases/families,Case(s),,200.0,Worldwide
847,X-linked alpha-thalassemia-intellectual disability syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1446,Ring chromosome 22 syndrome,Cases/families,Case(s),,100.0,Worldwide
1446,Ring chromosome 22 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
183435,Inherited ichthyosis,Point prevalence,Value and class,1-9 / 100 000,1.33,France
2268,ICF syndrome,Cases/families,Case(s),,66.0,Worldwide
2268,ICF syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
475,Isolated Joubert syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.47,Italy
475,Isolated Joubert syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.6666,Worldwide
475,Isolated Joubert syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
475,Isolated Joubert syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Spain
392,Holt-Oram syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
392,Holt-Oram syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.95,Hungary
392,Holt-Oram syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
113,Bazex-Dupré-Christol syndrome,Cases/families,Case(s),,143.0,Worldwide
113,Bazex-Dupré-Christol syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
243,"46,XX gonadal dysgenesis",Point prevalence,Class only,Unknown,0.0,Worldwide
243,"46,XX gonadal dysgenesis",Prevalence at birth,Class only,Unknown,0.0,Worldwide
183422,Polymalformative genetic syndrome with increased risk of developing cancer,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
136,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
136,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,Point prevalence,Value and class,1-9 / 100 000,2.0,United Kingdom
136,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,Point prevalence,Value and class,1-9 / 100 000,3.0,Finland
182114,Rare urogenital tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Europe
182114,Rare urogenital tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.21,United States
48,Congenital bilateral absence of vas deferens,Point prevalence,Value and class,1-5 / 10 000,50.0,Europe
182130,Tumor of endocrine glands,Annual incidence,Value and class,1-9 / 100 000,3.75,Europe
182130,Tumor of endocrine glands,Point prevalence,Value and class,6-9 / 10 000,64.0,Europe
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,<1 / 1 000 000,0.01,United States
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.86,Peru
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Norway
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Lebanon
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Portugal
528,Congenital generalized lipodystrophy,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Oman
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.6812,Worldwide
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,<1 / 1 000 000,0.05,Turkey
528,Congenital generalized lipodystrophy,Point prevalence,Value and class,1-9 / 100 000,3.23,Brazil
275,Severe combined immunodeficiency due to DCLRE1C deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
182090,Pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
182090,Pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.6,Spain
182090,Pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.37,Spain
182090,Pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.5,France
182090,Pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.24,France
182090,Pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.09,United States
182090,Pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 100 000,1.07,Czech Republic
182090,Pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,2.24,Czech Republic
182090,Pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.55,Switzerland
182090,Pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Switzerland
182090,Pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.72,United Kingdom
182090,Pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,5.2,United Kingdom
182095,Interstitial lung disease,Annual incidence,Value and class,1-9 / 100 000,4.1,Denmark
182095,Interstitial lung disease,Annual incidence,Value and class,1-9 / 100 000,5.4,Europe
182095,Interstitial lung disease,Annual incidence,Value and class,1-9 / 100 000,7.6,Spain
182095,Interstitial lung disease,Annual incidence,Value and class,1-9 / 100 000,4.63,Greece
182095,Interstitial lung disease,Point prevalence,Value and class,1-5 / 10 000,17.3,Greece
184,Cherubism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
184,Cherubism,Cases/families,Case(s),,300.0,Worldwide
1047,Sideroblastic anemia,Point prevalence,Class only,Unknown,0.0,Worldwide
71,Chylomicron retention disease,Cases/families,Case(s),,55.0,Worldwide
71,Chylomicron retention disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
182067,Glial tumor,Annual incidence,Value and class,1-9 / 100 000,5.26,United States
182067,Glial tumor,Point prevalence,Value and class,1-5 / 10 000,26.0,Europe
182067,Glial tumor,Annual incidence,Value and class,1-9 / 100 000,5.7,Greece
182067,Glial tumor,Annual incidence,Value and class,1-9 / 100 000,6.2,Croatia
182067,Glial tumor,Annual incidence,Value and class,1-9 / 100 000,5.35,Europe
1949,Self-limited neonatal epilepsy,Cases/families,Case(s),,272.0,Worldwide
1949,Self-limited neonatal epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
189,Hidrotic ectodermal dysplasia,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
1473,Uveal coloboma-cleft lip and palate-intellectual disability,Cases/families,Case(s),,12.0,Worldwide
1473,Uveal coloboma-cleft lip and palate-intellectual disability,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1344,Isolated atrial standstill,Point prevalence,Class only,Unknown,0.0,Worldwide
182050,MYH9-related syndromic thrombocytopenia,Point prevalence,Value and class,1-9 / 1 000 000,0.29,Italy
182050,MYH9-related syndromic thrombocytopenia,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
3103,Roberts syndrome,Cases/families,Case(s),,150.0,Worldwide
3103,Roberts syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
709,Peters plus syndrome,Cases/families,Case(s),,100.0,Worldwide
709,Peters plus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
776,Lujan-Fryns syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
902,Werner syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
902,Werner syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,United States
902,Werner syndrome,Point prevalence,Value and class,1-9 / 100 000,2.0,Japan
902,Werner syndrome,Point prevalence,Value and class,1-9 / 100 000,2.0,Specific population
888,Van der Woude syndrome,Point prevalence,Value and class,1-9 / 100 000,1.7,Finland
888,Van der Woude syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.3,France
888,Van der Woude syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,France
888,Van der Woude syndrome,Point prevalence,Value and class,1-9 / 100 000,1.4,Australia
888,Van der Woude syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.85,"Taiwan, Province of China"
888,Van der Woude syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,"Taiwan, Province of China"
888,Van der Woude syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.9,United States
888,Van der Woude syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,United States
888,Van der Woude syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
888,Van der Woude syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Australia
871,Hereditary progressive cardiac conduction defect,Cases/families,Case(s),,50.0,Worldwide
871,Hereditary progressive cardiac conduction defect,Point prevalence,Class only,Unknown,0.0,Worldwide
1597,Distal deletion 17q syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1590,Distal deletion 13q syndrome,Cases/families,Case(s),,150.0,Worldwide
1590,Distal deletion 13q syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1587,Monosomy 13q14 syndrome,Prevalence at birth,Class only,Unknown,0.0,Worldwide
1587,Monosomy 13q14 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1621,3q13 microdeletion syndrome,Cases/families,Case(s),,42.0,Worldwide
1621,3q13 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1620,Distal deletion 3p syndrome,Cases/families,Case(s),,34.0,Worldwide
1620,Distal deletion 3p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1643,Xp22.3 microdeletion syndrome,Cases/families,Case(s),,6.0,Worldwide
1643,Xp22.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1627,Deletion 5q35 syndrome,Cases/families,Case(s),,10.0,Worldwide
1627,Deletion 5q35 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1699,Trisomy 12p syndrome,Cases/families,Case(s),,40.0,Worldwide
1699,Trisomy 12p syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Worldwide
1699,Trisomy 12p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1695,Non-distal duplication 10q syndrome,Point prevalence,Class only,Not yet documented,0.0,Worldwide
500,Noonan syndrome with multiple lentigines,Cases/families,Case(s),,296.0,Worldwide
500,Noonan syndrome with multiple lentigines,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
507,Leishmaniasis,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
507,Leishmaniasis,Annual incidence,Value and class,1-5 / 10 000,25.0,Worldwide
548,Leprosy,Point prevalence,Class only,Unknown,0.0,Worldwide
548,Leprosy,Annual incidence,Value and class,1-9 / 100 000,3.7,Worldwide
233,Duane retraction syndrome,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
657,Congenital isolated hyperinsulinism,Prevalence at birth,Value and class,1-9 / 100 000,2.24,Czech Republic
657,Congenital isolated hyperinsulinism,Prevalence at birth,Value and class,1-9 / 100 000,5.25,Japan
657,Congenital isolated hyperinsulinism,Prevalence at birth,Value and class,1-9 / 100 000,3.52,United Kingdom
657,Congenital isolated hyperinsulinism,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Netherlands
657,Congenital isolated hyperinsulinism,Prevalence at birth,Value and class,1-5 / 10 000,40.0,Saudi Arabia
657,Congenital isolated hyperinsulinism,Prevalence at birth,Value and class,1-9 / 100 000,3.67,Worldwide
657,Congenital isolated hyperinsulinism,Point prevalence,Class only,Unknown,0.0,Worldwide
657,Congenital isolated hyperinsulinism,Point prevalence,Value and class,1-5 / 10 000,23.2,China
2495,Meningioma,Annual incidence,Value and class,1-9 / 100 000,4.15,Germany
2495,Meningioma,Point prevalence,Class only,Unknown,0.0,Europe
2495,Meningioma,Annual incidence,Value and class,1-9 / 100 000,8.14,United States
569,Familial or sporadic hemiplegic migraine,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
569,Familial or sporadic hemiplegic migraine,Point prevalence,Value and class,1-5 / 10 000,10.0,Denmark
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,53.6,Europe
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,19.6,Austria
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Austria
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,40.8,Belgium
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Belgium
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,56.8,Croatia
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Croatia
2014,Cleft palate,Prevalence at birth,Value and class,>1 / 1000,127.6,Denmark
2014,Cleft palate,Point prevalence,Class only,>1 / 1000,0.0,Denmark
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,25.5,France
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,France
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,47.5,Germany
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Germany
2014,Cleft palate,Prevalence at birth,Value and class,6-9 / 10 000,67.5,Hungary
2014,Cleft palate,Point prevalence,Class only,6-9 / 10 000,0.0,Hungary
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,54.2,Ireland
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Ireland
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,39.6,Italy
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Italy
2014,Cleft palate,Prevalence at birth,Value and class,6-9 / 10 000,74.7,Malta
2014,Cleft palate,Point prevalence,Class only,6-9 / 10 000,0.0,Malta
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,11.7,Netherlands
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Netherlands
2014,Cleft palate,Prevalence at birth,Value and class,6-9 / 10 000,65.4,Norway
2014,Cleft palate,Point prevalence,Class only,6-9 / 10 000,0.0,Norway
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,36.5,Poland
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Poland
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,14.2,Portugal
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Portugal
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,30.7,Spain
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Spain
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,25.1,Switzerland
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Switzerland
2014,Cleft palate,Prevalence at birth,Value and class,6-9 / 10 000,60.2,United Kingdom
2014,Cleft palate,Point prevalence,Class only,6-9 / 10 000,0.0,United Kingdom
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,57.2,Ukraine
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Ukraine
2014,Cleft palate,Prevalence at birth,Value and class,>1 / 1000,101.2,Australia
2014,Cleft palate,Point prevalence,Class only,>1 / 1000,0.0,Australia
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,52.0,Chile
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Chile
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,27.0,Sudan
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Sudan
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,26.0,"Iran, Islamic Republic of"
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,"Iran, Islamic Republic of"
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,27.0,Mexico
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,Mexico
2014,Cleft palate,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Bolivia
2014,Cleft palate,Point prevalence,Class only,1-9 / 100 000,0.0,Bolivia
2014,Cleft palate,Prevalence at birth,Value and class,6-9 / 10 000,68.0,Specific population
2014,Cleft palate,Point prevalence,Class only,6-9 / 10 000,0.0,Specific population
2014,Cleft palate,Prevalence at birth,Value and class,1-5 / 10 000,40.0,"Taiwan, Province of China"
2014,Cleft palate,Point prevalence,Class only,1-5 / 10 000,0.0,"Taiwan, Province of China"
240,Léri-Weill dyschondrosteosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2311,Autosomal recessive spondylocostal dysostosis,Point prevalence,Class only,Unknown,0.0,Worldwide
358,Gitelman syndrome,Point prevalence,Value and class,1-9 / 100 000,2.5,Europe
242,"46,XY complete gonadal dysgenesis",Point prevalence,Class only,Unknown,0.0,Worldwide
242,"46,XY complete gonadal dysgenesis",Prevalence at birth,Class only,Unknown,0.0,Worldwide
2052,Fraser syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
2052,Fraser syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2052,Fraser syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.43,Spain
1354,Heart defects-limb shortening syndrome,Cases/families,Case(s),,2.0,Worldwide
1354,Heart defects-limb shortening syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1358,Carey-Fineman-Ziter syndrome,Cases/families,Case(s),,20.0,Worldwide
1358,Carey-Fineman-Ziter syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,20.0,Worldwide
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,24.0,Europe
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,6-9 / 10 000,78.0,Austria
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,26.2,Belgium
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Croatia
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Denmark
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,23.6,France
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,53.5,Germany
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,43.2,Hungary
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,28.9,Ireland
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,11.3,Italy
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,29.2,Netherlands
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,29.5,Norway
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,11.6,Poland
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-9 / 100 000,4.7,Portugal
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,13.8,Spain
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,49.0,Switzerland
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,21.6,United Kingdom
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,1-5 / 10 000,28.6,Ukraine
557,Non-syndromic anorectal malformation,Prevalence at birth,Value and class,6-9 / 10 000,60.8,Saudi Arabia
557,Non-syndromic anorectal malformation,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
111,Barth syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.22,Europe
111,Barth syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.29,United States
111,Barth syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.15,France
111,Barth syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.71,United Kingdom
10,"48,XXYY syndrome",Prevalence at birth,Value and class,1-9 / 100 000,1.9,Europe
10,"48,XXYY syndrome",Point prevalence,Class only,Unknown,0.0,Worldwide
1308,C syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.11,Europe
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.2,China
150,Nasopharyngeal carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
150,Nasopharyngeal carcinoma,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Europe
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.337,Austria
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.317,Belgium
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.766,Bulgaria
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.423,Croatia
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.437,Czech Republic
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Estonia
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.177,Finland
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Germany
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.383,Iceland
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.207,Ireland
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.618,Italy
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.254,Latvia
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.228,Lithuania
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.264,Norway
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.426,Poland
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.62,Portugal
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.491,Slovakia
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.394,Slovenia
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.779,Spain
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.462,Switzerland
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.288,Netherlands
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.211,United Kingdom
150,Nasopharyngeal carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.256,Malta
133,Chronic beryllium disease,Point prevalence,Class only,Unknown,0.0,Worldwide
1552,Currarino syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
1450,Ring chromosome 8 syndrome,Cases/families,Case(s),,8.0,Worldwide
1450,Ring chromosome 8 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1448,Ring chromosome 6 syndrome,Cases/families,Case(s),,25.0,Worldwide
1448,Ring chromosome 6 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1581,Non-distal deletion 10q syndrome,Point prevalence,Class only,Not yet documented,0.0,Worldwide
1580,Distal deletion 10p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1437,Ring chromosome 1 syndrome,Cases/families,Case(s),,35.0,Worldwide
1437,Ring chromosome 1 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
172,Progressive familial intrahepatic cholestasis,Point prevalence,Class only,Unknown,0.0,Worldwide
1447,Ring chromosome 4 syndrome,Cases/families,Case(s),,20.0,Worldwide
1447,Ring chromosome 4 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1444,Ring chromosome 20 syndrome,Cases/families,Case(s),,50.0,Worldwide
1444,Ring chromosome 20 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1439,Ring chromosome 12 syndrome,Cases/families,Case(s),,10.0,Worldwide
1439,Ring chromosome 12 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1438,Ring chromosome 10 syndrome,Cases/families,Case(s),,16.0,Worldwide
1438,Ring chromosome 10 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3306,Inverted duplicated chromosome 15 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.33,Worldwide
3306,Inverted duplicated chromosome 15 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3375,Trisomy X syndrome,Point prevalence,Value and class,1-5 / 10 000,42.5,Europe
3310,Tetrasomy 9p syndrome,Cases/families,Case(s),,70.0,Worldwide
3310,Tetrasomy 9p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3000,Familial peripheral male-limited precocious puberty,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3305,Tetraploidy syndrome,Cases/families,Case(s),,12.0,Worldwide
3305,Tetraploidy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3176,Spina bifida-hypospadias syndrome,Point prevalence,Value and class,1-9 / 100 000,6.1,Spain
3176,Spina bifida-hypospadias syndrome,Prevalence at birth,Value and class,1-9 / 100 000,6.1,Spain
1708,Mosaic trisomy 16 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1708,Mosaic trisomy 16 syndrome,Cases/families,Case(s),,226.0,Worldwide
1711,Mosaic trisomy 17 syndrome,Cases/families,Case(s),,31.0,Worldwide
1711,Mosaic trisomy 17 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3376,Triploidy syndrome,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Europe
3376,Triploidy syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1692,Mosaic trisomy 1 syndrome,Cases/families,Case(s),,1.0,Worldwide
1692,Mosaic trisomy 1 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1698,Mosaic trisomy 12 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1706,Mosaic trisomy 15 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
916,Aase-Smith syndrome type 1,Cases/families,Case(s),,10.0,Worldwide
916,Aase-Smith syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
920,Ablepharon macrostomia syndrome,Cases/families,Case(s),,21.0,Worldwide
920,Ablepharon macrostomia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1445,Ring chromosome 21 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
7,3C syndrome,Cases/families,Case(s),,25.0,Worldwide
7,3C syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
931,Isolated acheiropodia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
931,Isolated acheiropodia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Brazil
931,Isolated acheiropodia,Point prevalence,Value and class,<1 / 1 000 000,0.03,Brazil
929,Achalasia-microcephaly syndrome,Cases/families,Case(s),,7.0,Worldwide
929,Achalasia-microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
869,Triple A syndrome,Cases/families,Case(s),,100.0,Worldwide
869,Triple A syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2297,Insulin-resistance syndrome type A,Point prevalence,Class only,Unknown,0.0,Worldwide
922,Familial nasal acilia,Cases/families,Case(s),,8.0,Worldwide
922,Familial nasal acilia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
921,Abruzzo-Erickson syndrome,Cases/families,Case(s),,4.0,Worldwide
921,Abruzzo-Erickson syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
27,Vitamin B12-unresponsive methylmalonic acidemia,Point prevalence,Class only,Unknown,0.0,Worldwide
939,3-hydroxyisobutyric aciduria,Cases/families,Case(s),,13.0,Worldwide
939,3-hydroxyisobutyric aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31,Oxoglutaric aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
935,Short-limb skeletal dysplasia with severe combined immunodeficiency,Cases/families,Case(s),,19.0,Worldwide
935,Short-limb skeletal dysplasia with severe combined immunodeficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
932,Achondrogenesis,Prevalence at birth,Value and class,1-9 / 100 000,2.8,France
932,Achondrogenesis,Point prevalence,Class only,Unknown,0.0,Europe
37,Acrodermatitis enteropathica,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Denmark
37,Acrodermatitis enteropathica,Point prevalence,Class only,1-9 / 1 000 000,0.0,Denmark
37,Acrodermatitis enteropathica,Point prevalence,Class only,Unknown,0.0,Europe
950,Acrodysostosis,Point prevalence,Class only,Unknown,0.0,Worldwide
950,Acrodysostosis,Cases/families,Case(s),,80.0,Worldwide
949,Acrocraniofacial dysostosis,Cases/families,Case(s),,2.0,Worldwide
949,Acrocraniofacial dysostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
945,Acalvaria,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Europe
945,Acalvaria,Point prevalence,Class only,Unknown,0.0,Worldwide
957,Acropectorovertebral dysplasia,Cases/families,Case(s),,30.0,Worldwide
957,Acropectorovertebral dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
958,Acro-renal-mandibular syndrome,Cases/families,Case(s),,10.0,Worldwide
958,Acro-renal-mandibular syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
955,Hajdu-Cheney syndrome,Cases/families,Case(s),,100.0,Worldwide
955,Hajdu-Cheney syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
952,"Acrofacial dysostosis, Weyers type",Point prevalence,Class only,Unknown,0.0,Worldwide
1702,Non-distal duplication 13q syndrome,Cases/families,Case(s),,2.0,Worldwide
1702,Non-distal duplication 13q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1703,Mosaic trisomy 14 syndrome,Cases/families,Case(s),,50.0,Worldwide
1703,Mosaic trisomy 14 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1705,Distal duplication 14q syndrome,Cases/families,Case(s),,25.0,Worldwide
1705,Distal duplication 14q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1713,17p11.2 microduplication syndrome,Cases/families,Case(s),,170.0,Worldwide
1713,17p11.2 microduplication syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1738,Trisomy 4p syndrome,Cases/families,Case(s),,85.0,Worldwide
1738,Trisomy 4p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1742,Trisomy 5p syndrome,Cases/families,Case(s),,40.0,Worldwide
1742,Trisomy 5p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1745,Distal duplication 6p syndrome,Cases/families,Case(s),,40.0,Worldwide
1745,Distal duplication 6p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1752,Trisomy 8q syndrome,Cases/families,Case(s),,30.0,Worldwide
1752,Trisomy 8q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1762,Proximal Xq28 duplication syndrome,Point prevalence,Class only,Unknown,0.0,Europe
1762,Proximal Xq28 duplication syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,Australia
1762,Proximal Xq28 duplication syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.07,Australia
1878,TRIM32-related limb-girdle muscular dystrophy R8,Point prevalence,Class only,Unknown,0.0,Worldwide
1876,Oculogastrointestinal muscular dystrophy,Cases/families,Family(ies),,1.0,Worldwide
1876,Oculogastrointestinal muscular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1948,Epilepsy-microcephaly-skeletal dysplasia syndrome,Cases/families,Case(s),,2.0,Worldwide
1948,Epilepsy-microcephaly-skeletal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1946,Amelocerebrohypohidrotic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1951,Epilepsy-telangiectasia syndrome,Cases/families,Case(s),,6.0,Worldwide
1951,Epilepsy-telangiectasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
381,Griscelli syndrome,Cases/families,Case(s),,150.0,Worldwide
381,Griscelli syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2604,Familial visceral myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
156,Carnitine palmitoyl transferase 1A deficiency,Cases/families,Case(s),,60.0,Worldwide
156,Carnitine palmitoyl transferase 1A deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
156,Carnitine palmitoyl transferase 1A deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Israel
156,Carnitine palmitoyl transferase 1A deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Specific population
2597,Mitochondrial myopathy-lactic acidosis-deafness syndrome,Cases/families,Case(s),,2.0,Worldwide
2597,Mitochondrial myopathy-lactic acidosis-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2598,Mitochondrial myopathy and sideroblastic anemia,Cases/families,Case(s),,7.0,Worldwide
2598,Mitochondrial myopathy and sideroblastic anemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1078,Thumb stiffness-brachydactyly-intellectual disability syndrome,Cases/families,Case(s),,7.0,Worldwide
1078,Thumb stiffness-brachydactyly-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1077,Dental ankylosis,Point prevalence,Class only,Unknown,0.0,Worldwide
1074,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,Cases/families,Family(ies),,3.0,Worldwide
1074,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1071,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1069,Aniridia-absent patella syndrome,Cases/families,Case(s),,3.0,Worldwide
1069,Aniridia-absent patella syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1068,Aniridia-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
1068,Aniridia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1067,Aniridia-ptosis-intellectual disability-familial obesity syndrome,Cases/families,Case(s),,3.0,Worldwide
1067,Aniridia-ptosis-intellectual disability-familial obesity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1064,Aniridia-renal agenesis-psychomotor retardation syndrome,Cases/families,Case(s),,2.0,Worldwide
1064,Aniridia-renal agenesis-psychomotor retardation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1062,Hereditary neurocutaneous malformation,Cases/families,Family(ies),,9.0,Worldwide
1062,Hereditary neurocutaneous malformation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1053,Vein of Galen malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
1055,Congenital left ventricular aneurysm,Point prevalence,Class only,Unknown,0.0,Worldwide
1055,Congenital left ventricular aneurysm,Cases/families,Case(s),,809.0,Worldwide
1052,Mosaic variegated aneuploidy syndrome,Cases/families,Case(s),,41.0,Worldwide
1052,Mosaic variegated aneuploidy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1040,Metaphyseal anadysplasia,Cases/families,Case(s),,27.0,Worldwide
1040,Metaphyseal anadysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1041,Hydrops fetalis,Prevalence at birth,Value and class,>1 / 1000,134.0,Ireland
1041,Hydrops fetalis,Prevalence at birth,Value and class,>1 / 1000,380.0,Turkey
1041,Hydrops fetalis,Prevalence at birth,Value and class,>1 / 1000,180.0,Thailand
1041,Hydrops fetalis,Point prevalence,Class only,Unknown,0.0,Worldwide
1037,Arthrogryposis multiplex congenita,Prevalence at birth,Value and class,1-9 / 100 000,5.7,Europe
1037,Arthrogryposis multiplex congenita,Prevalence at birth,Value and class,1-9 / 100 000,8.3,Australia
1037,Arthrogryposis multiplex congenita,Prevalence at birth,Class only,1-5 / 10 000,0.0,Canada
1037,Arthrogryposis multiplex congenita,Point prevalence,Class only,Unknown,0.0,Europe
1126,Aprosencephaly cerebellar dysgenesis,Cases/families,Case(s),,2.0,Worldwide
1126,Aprosencephaly cerebellar dysgenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1125,"Ocular motor apraxia, Cogan type",Cases/families,Case(s),,50.0,Worldwide
1125,"Ocular motor apraxia, Cogan type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1121,Radial deficiency-tibial hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1120,Lung agenesis-heart defect-thumb anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1120,Lung agenesis-heart defect-thumb anomalies syndrome,Cases/families,Case(s),,9.0,Worldwide
1122,Ulnar hypoplasia-split foot syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1122,Ulnar hypoplasia-split foot syndrome,Cases/families,Family(ies),,1.0,Worldwide
1116,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,Cases/families,Case(s),,3.0,Worldwide
1116,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1118,Fibular aplasia-ectrodactyly syndrome,Cases/families,Case(s),,50.0,Worldwide
1118,Fibular aplasia-ectrodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1117,Aplasia cutis-myopia syndrome,Cases/families,Case(s),,4.0,Worldwide
1117,Aplasia cutis-myopia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1110,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
1110,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1113,Aphalangy-syndactyly-microcephaly syndrome,Cases/families,Case(s),,5.0,Worldwide
1113,Aphalangy-syndactyly-microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1112,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,Cases/families,Case(s),,3.0,Worldwide
1112,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1106,Microphthalmia with limb anomalies,Cases/families,Family(ies),,35.0,Worldwide
1106,Microphthalmia with limb anomalies,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83,Antley-Bixler syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1104,Anophthalmia plus syndrome,Cases/families,Case(s),,17.0,Worldwide
1104,Anophthalmia plus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1094,Anonychia-microcephaly syndrome,Cases/families,Case(s),,4.0,Worldwide
1094,Anonychia-microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
991,PAGOD syndrome,Cases/families,Case(s),,6.0,Worldwide
991,PAGOD syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
990,Agnathia-holoprosencephaly-situs inversus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
989,Hypoglossia-hypodactyly syndrome,Cases/families,Case(s),,47.0,Worldwide
989,Hypoglossia-hypodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
994,Fetal akinesia deformation sequence,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Europe
994,Fetal akinesia deformation sequence,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
51,Aicardi-Goutières syndrome,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
51,Aicardi-Goutières syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
981,Internal carotid absence,Cases/families,Case(s),,100.0,Worldwide
981,Internal carotid absence,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
978,ADULT syndrome,Cases/families,Case(s),,50.0,Worldwide
978,ADULT syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
977,Adrenomyodystrophy,Cases/families,Case(s),,2.0,Worldwide
977,Adrenomyodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
988,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,Cases/families,Case(s),,94.0,Worldwide
988,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
983,Testicular regression syndrome,Point prevalence,Class only,Unknown,0.0,Europe
970,Hereditary sensory and autonomic neuropathy type 2,Cases/families,Case(s),,35.0,Worldwide
970,Hereditary sensory and autonomic neuropathy type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
971,Acrorenal syndrome,Cases/families,Case(s),,20.0,Worldwide
971,Acrorenal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
40,"Acromesomelic dysplasia, Maroteaux type",Cases/families,Case(s),,50.0,Worldwide
40,"Acromesomelic dysplasia, Maroteaux type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
969,Acromicric dysplasia,Cases/families,Case(s),,60.0,Worldwide
969,Acromicric dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
974,Adams-Oliver syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.44,Worldwide
974,Adams-Oliver syndrome,Cases/families,Case(s),,398.0,Worldwide
972,Hereditary continuous muscle fiber activity,Cases/families,Case(s),,34.0,Worldwide
972,Hereditary continuous muscle fiber activity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
973,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral",Cases/families,Family(ies),,2.0,Worldwide
973,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
959,Acro-renal-ocular syndrome,Cases/families,Family(ies),,20.0,Worldwide
959,Acro-renal-ocular syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
968,"Acromesomelic dysplasia, Hunter-Thompson type",Cases/families,Case(s),,10.0,Worldwide
968,"Acromesomelic dysplasia, Hunter-Thompson type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139411,Carney triad,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139411,Carney triad,Cases/families,Case(s),,150.0,Worldwide
139414,Congenital panfollicular nevus,Cases/families,Case(s),,3.0,Worldwide
139414,Congenital panfollicular nevus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1028,Amelo-onycho-hypohidrotic syndrome,Cases/families,Case(s),,2.0,Worldwide
1028,Amelo-onycho-hypohidrotic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139417,Acute transverse myelitis,Annual incidence,Value and class,1-9 / 100 000,8.6,United States
139417,Acute transverse myelitis,Point prevalence,Value and class,1-9 / 100 000,7.9,United States
139417,Acute transverse myelitis,Annual incidence,Value and class,1-9 / 100 000,4.72,Worldwide
1031,Enamel-renal syndrome,Cases/families,Case(s),,11.0,Worldwide
1031,Enamel-renal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139423,Idiopathic acute transverse myelitis,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Europe
139423,Idiopathic acute transverse myelitis,Point prevalence,Class only,Unknown,0.0,Worldwide
139426,Perioral myoclonia with absences,Cases/families,Case(s),,10.0,Worldwide
139426,Perioral myoclonia with absences,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139431,Epilepsy with eyelid myoclonia,Point prevalence,Class only,Unknown,0.0,Worldwide
1035,Beta-mercaptolactate cysteine disulfiduria,Cases/families,Case(s),,1.0,Worldwide
1035,Beta-mercaptolactate cysteine disulfiduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139436,Multicentric reticulohistiocytosis,Cases/families,Case(s),,200.0,Worldwide
139436,Multicentric reticulohistiocytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
1021,Amaurosis-hypertrichosis syndrome,Cases/families,Case(s),,2.0,Worldwide
1021,Amaurosis-hypertrichosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
64,Alström syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
64,Alström syndrome,Cases/families,Case(s),,950.0,Worldwide
1023,"Congenital generalized hypertrichosis, Ambras type",Cases/families,Case(s),,40.0,Worldwide
1023,"Congenital generalized hypertrichosis, Ambras type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139396,X-linked cerebral adrenoleukodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
139402,Drug reaction with eosinophilia and systemic symptoms,Point prevalence,Class only,Unknown,0.0,Worldwide
139406,Encephalopathy due to prosaposin deficiency,Cases/families,Case(s),,10.0,Worldwide
139406,Encephalopathy due to prosaposin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1008,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,Cases/families,Case(s),,12.0,Worldwide
1008,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
701,Alopecia universalis,Point prevalence,Value and class,1-5 / 10 000,25.0,Europe
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Cases/families,Case(s),,10.0,Worldwide
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1014,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,Cases/families,Case(s),,2.0,Worldwide
1014,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1001,2q37 microdeletion syndrome,Cases/families,Case(s),,115.0,Worldwide
1001,2q37 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
59,Allan-Herndon-Dudley syndrome,Cases/families,Case(s),,320.0,Worldwide
59,Allan-Herndon-Dudley syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
59,Allan-Herndon-Dudley syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1003,Scalp defects-postaxial polydactyly syndrome,Cases/families,Case(s),,2.0,Worldwide
1003,Scalp defects-postaxial polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1005,Alopecia-contractures-dwarfism-intellectual disability syndrome,Cases/families,Case(s),,5.0,Worldwide
1005,Alopecia-contractures-dwarfism-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1253,Ascher syndrome,Cases/families,Case(s),,50.0,Worldwide
1253,Ascher syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1252,Blepharonasofacial malformation syndrome,Cases/families,Family(ies),,3.0,Worldwide
1252,Blepharonasofacial malformation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1248,Maxillonasal dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
127,Borjeson-Forssman-Lehmann syndrome,Cases/families,Case(s),,50.0,Worldwide
127,Borjeson-Forssman-Lehmann syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1264,Tricho-retino-dento-digital syndrome,Cases/families,Case(s),,9.0,Worldwide
1264,Tricho-retino-dento-digital syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1262,Böök syndrome,Cases/families,Case(s),,26.0,Worldwide
1262,Böök syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1263,Boomerang dysplasia,Cases/families,Case(s),,10.0,Worldwide
1263,Boomerang dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1259,Blepharoptosis-myopia-ectopia lentis syndrome,Cases/families,Case(s),,3.0,Worldwide
1259,Blepharoptosis-myopia-ectopia lentis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1261,Bonnemann-Meinecke-Reich syndrome,Cases/families,Case(s),,4.0,Worldwide
1261,Bonnemann-Meinecke-Reich syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1234,Bartsocas-Papas syndrome,Cases/families,Case(s),,24.0,Worldwide
1234,Bartsocas-Papas syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1234,Bartsocas-Papas syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.15,Spain
1231,Barber-Say syndrome,Cases/families,Case(s),,16.0,Worldwide
1231,Barber-Say syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1229,Pseudo-TORCH syndrome type 1,Cases/families,Case(s),,30.0,Worldwide
1229,Pseudo-TORCH syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
109,Bannayan-Riley-Ruvalcaba syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1228,Banki syndrome,Cases/families,Family(ies),,1.0,Worldwide
1228,Banki syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1241,Bencze syndrome,Cases/families,Family(ies),,2.0,Worldwide
1241,Bencze syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1237,Beemer-Ertbruggen syndrome,Cases/families,Case(s),,2.0,Worldwide
1237,Beemer-Ertbruggen syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
114,Auriculoosteodysplasia,Cases/families,Family(ies),,2.0,Worldwide
114,Auriculoosteodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
115,Congenital contractural arachnodactyly,Point prevalence,Class only,Unknown,0.0,Worldwide
1236,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,Cases/families,Case(s),,2.0,Worldwide
1236,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137622,Intractable diarrhea-choanal atresia-eye anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
137622,Intractable diarrhea-choanal atresia-eye anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1292,Brachymorphism-onychodysplasia-dysphalangism syndrome,Cases/families,Case(s),,9.0,Worldwide
1292,Brachymorphism-onychodysplasia-dysphalangism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137628,Cardiac anomalies-heterotaxy syndrome,Cases/families,Case(s),,9.0,Worldwide
137628,Cardiac anomalies-heterotaxy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1293,Brachyolmia,Point prevalence,Class only,Unknown,0.0,Worldwide
1293,Brachyolmia,Cases/families,Case(s),,100.0,Worldwide
137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,Cases/families,Case(s),,4.0,Worldwide
137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1299,Branchioskeletogenital syndrome,Cases/families,Case(s),,7.0,Worldwide
1299,Branchioskeletogenital syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1300,Autosomal dominant popliteal pterygium syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Worldwide
1300,Autosomal dominant popliteal pterygium syndrome,Cases/families,Case(s),,200.0,Worldwide
137667,Capillary malformation-arteriovenous malformation,Cases/families,Case(s),,261.0,Worldwide
137667,Capillary malformation-arteriovenous malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,Cases/families,Family(ies),,6.0,Worldwide
137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1295,Brachytelephalangy-dysmorphism-Kallmann syndrome,Cases/families,Case(s),,2.0,Worldwide
1295,Brachytelephalangy-dysmorphism-Kallmann syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",Cases/families,Case(s),,2.0,Worldwide
137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1296,Lambert syndrome,Cases/families,Case(s),,4.0,Worldwide
1296,Lambert syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1297,Branchio-oculo-facial syndrome,Cases/families,Case(s),,150.0,Worldwide
1297,Branchio-oculo-facial syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,Cases/families,Case(s),,8.0,Worldwide
137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137577,Neonatal hypoxic and ischemic brain injury,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
137583,Vulvar intraepithelial neoplasia,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
1276,Brachydactyly-arterial hypertension syndrome,Cases/families,Family(ies),,10.0,Worldwide
1276,Brachydactyly-arterial hypertension syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1275,Brachydactyly-elbow wrist dysplasia syndrome,Cases/families,Family(ies),,4.0,Worldwide
1275,Brachydactyly-elbow wrist dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1270,Bowen-Conradi syndrome,Cases/families,Case(s),,60.0,Worldwide
1270,Bowen-Conradi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1270,Bowen-Conradi syndrome,Prevalence at birth,Value and class,>1 / 1000,281.0,Specific population
137605,Legius syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Worldwide
137605,Legius syndrome,Point prevalence,Class only,Unknown,0.0,Europe
137596,Neurotrophic keratopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
137596,Neurotrophic keratopathy,Point prevalence,Value and class,1-5 / 10 000,4.2,Europe
1278,Brachydactyly-preaxial hallux varus syndrome,Cases/families,Case(s),,8.0,Worldwide
1278,Brachydactyly-preaxial hallux varus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137599,Herpes simplex virus stromal keratitis,Point prevalence,Value and class,1-9 / 100 000,4.2091,Worldwide
137599,Herpes simplex virus stromal keratitis,Annual incidence,Value and class,1-9 / 100 000,5.4,France
1166,Congenital unilateral hypoplasia of depressor anguli oris,Point prevalence,Class only,Unknown,0.0,Worldwide
1168,Ataxia-oculomotor apraxia type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
1160,Chylous ascites,Point prevalence,Class only,Unknown,0.0,Worldwide
137817,Arachnoiditis,Point prevalence,Class only,Unknown,0.0,Worldwide
1174,Cerebellar ataxia-ectodermal dysplasia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
137839,Lemierre syndrome,Annual incidence,Value and class,1-5 / 10 000,10.0,Europe
137839,Lemierre syndrome,Annual incidence,Value and class,1-5 / 10 000,36.0,Denmark
137839,Lemierre syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
137834,Frank-Ter Haar syndrome,Cases/families,Case(s),,30.0,Worldwide
137834,Frank-Ter Haar syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,Cases/families,Family(ies),,14.0,Worldwide
137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1170,Autosomal recessive cerebelloparenchymal disorder type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
1178,Ataxia-tapetoretinal degeneration syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1175,X-linked progressive cerebellar ataxia,Point prevalence,Class only,Unknown,0.0,Worldwide
1180,Ataxia-hypogonadism-choroidal dystrophy syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1179,Benign paroxysmal tonic upgaze of childhood with ataxia,Cases/families,Case(s),,12.0,Worldwide
1179,Benign paroxysmal tonic upgaze of childhood with ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1173,Cerebellar ataxia-hypogonadism syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
137867,Madras motor neuron disease,Cases/families,Case(s),,200.0,Worldwide
137867,Madras motor neuron disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137681,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Cases/families,Case(s),,2.0,Worldwide
137681,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1133,AREDYLD syndrome,Cases/families,Case(s),,3.0,Worldwide
1133,AREDYLD syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137675,Histiocytoid cardiomyopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137675,Histiocytoid cardiomyopathy,Cases/families,Case(s),,100.0,Worldwide
1131,X-linked mandibulofacial dysostosis,Cases/families,Case(s),,7.0,Worldwide
1131,X-linked mandibulofacial dysostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137678,Spondyloepiphyseal dysplasia with metatarsal shortening,Cases/families,Family(ies),,13.0,Worldwide
137678,Spondyloepiphyseal dysplasia with metatarsal shortening,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137698,Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,Point prevalence,Value and class,1-5 / 10 000,25.5,Europe
137754,Aminoacylase 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137754,Aminoacylase 1 deficiency,Cases/families,Case(s),,15.0,Worldwide
1145,Infantile-onset X-linked spinal muscular atrophy,Cases/families,Family(ies),,14.0,Worldwide
1145,Infantile-onset X-linked spinal muscular atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1144,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,Cases/families,Family(ies),,1.0,Worldwide
1144,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137686,Asherman syndrome,Point prevalence,Value and class,1-5 / 10 000,44.0,Europe
137776,Lethal congenital contracture syndrome type 2,Cases/families,Family(ies),,1.0,Worldwide
137776,Lethal congenital contracture syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1150,Arthrogryposis multiplex congenita-whistling face syndrome,Cases/families,Case(s),,10.0,Worldwide
1150,Arthrogryposis multiplex congenita-whistling face syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1149,Kuskokwim syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1149,Kuskokwim syndrome,Cases/families,Family(ies),,8.0,Worldwide
137807,Primary cutaneous amyloidosis,Point prevalence,Value and class,1-9 / 100 000,9.8,"Taiwan, Province of China"
137807,Primary cutaneous amyloidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
1159,Progressive pseudorheumatoid dysplasia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
137783,Lethal congenital contracture syndrome type 3,Cases/families,Case(s),,14.0,Worldwide
137783,Lethal congenital contracture syndrome type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1214,Progressive hemifacial atrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
1214,Progressive hemifacial atrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.143,United States
1215,Autosomal dominant optic atrophy plus syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
138044,Rare disease with Pierre Robin syndrome,Prevalence at birth,Class only,Unknown,0.0,Worldwide
138044,Rare disease with Pierre Robin syndrome,Point prevalence,Class only,Unknown,0.0,Europe
1221,Cheilitis glandularis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1221,Cheilitis glandularis,Cases/families,Case(s),,100.0,Worldwide
1225,Baller-Gerold syndrome,Cases/families,Case(s),,40.0,Worldwide
1225,Baller-Gerold syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1226,Bamforth-Lazarus syndrome,Cases/families,Case(s),,8.0,Worldwide
1226,Bamforth-Lazarus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1227,Bangstad syndrome,Cases/families,Case(s),,2.0,Worldwide
1227,Bangstad syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1184,Ataxia-photosensitivity-short stature syndrome,Cases/families,Case(s),,2.0,Worldwide
1184,Ataxia-photosensitivity-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1182,Spastic ataxia with congenital miosis,Cases/families,Family(ies),,3.0,Worldwide
1182,Spastic ataxia with congenital miosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137888,Auriculocondylar syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
137888,Auriculocondylar syndrome,Cases/families,Case(s),,50.0,Worldwide
1186,Infantile-onset spinocerebellar ataxia,Cases/families,Case(s),,29.0,Worldwide
1186,Infantile-onset spinocerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1185,Spinocerebellar ataxia-dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
1185,Spinocerebellar ataxia-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,Cases/families,Case(s),,127.0,Worldwide
137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1188,Ataxia-deafness-intellectual disability syndrome,Cases/families,Case(s),,8.0,Worldwide
1188,Ataxia-deafness-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1187,Lethal ataxia with deafness and optic atrophy,Cases/families,Family(ies),,4.0,Worldwide
1187,Lethal ataxia with deafness and optic atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1190,Atelosteogenesis type I,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137908,Hypotonia with lactic acidemia and hyperammonemia,Cases/families,Case(s),,4.0,Worldwide
137908,Hypotonia with lactic acidemia and hyperammonemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,8.6,Europe
137914,Choanal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Austria
137914,Choanal atresia,Prevalence at birth,Value and class,1-5 / 10 000,14.6,Belgium
137914,Choanal atresia,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Denmark
137914,Choanal atresia,Prevalence at birth,Value and class,1-5 / 10 000,15.7,France
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.9,Germany
137914,Choanal atresia,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Hungary
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,7.2,Ireland
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.7,Italy
137914,Choanal atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.7,Netherlands
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,4.9,Norway
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Poland
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,6.3,Spain
137914,Choanal atresia,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Switzerland
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,8.9,United Kingdom
137914,Choanal atresia,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Ukraine
1193,Atkin-Flaitz syndrome,Cases/families,Case(s),,14.0,Worldwide
1193,Atkin-Flaitz syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137917,"Choanal atresia, unilateral",Point prevalence,Class only,1-9 / 100 000,0.0,Europe
137917,"Choanal atresia, unilateral",Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
1200,Burn-McKeown syndrome,Cases/families,Family(ies),,20.0,Worldwide
1200,Burn-McKeown syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
137920,"Choanal atresia, bilateral",Point prevalence,Class only,Unknown,0.0,Europe
1198,Colonic atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Worldwide
1198,Colonic atresia,Point prevalence,Class only,Unknown,0.0,Worldwide
1198,Colonic atresia,Prevalence at birth,Value and class,1-9 / 100 000,1.5,United Kingdom
1198,Colonic atresia,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Europe
1203,Duodenal atresia,Point prevalence,Value and class,1-9 / 100 000,9.0,Europe
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Belgium
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Belgium
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Spain
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Spain
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,6.0,Ireland
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Ireland
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,7.0,Italy
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Italy
1203,Duodenal atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.0,United Kingdom
1203,Duodenal atresia,Point prevalence,Class only,1-5 / 10 000,0.0,United Kingdom
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Malta
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Malta
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Denmark
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Denmark
1203,Duodenal atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.0,France
1203,Duodenal atresia,Point prevalence,Class only,1-5 / 10 000,0.0,France
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,7.0,Reunion
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Reunion
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Portugal
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Portugal
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Germany
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Germany
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Austria
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Austria
1203,Duodenal atresia,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Switzerland
1203,Duodenal atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Switzerland
1208,Pulmonary atresia-intact ventricular septum syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.5,United Kingdom
1208,Pulmonary atresia-intact ventricular septum syndrome,Prevalence at birth,Value and class,1-9 / 100 000,4.2,Sweden
1208,Pulmonary atresia-intact ventricular septum syndrome,Point prevalence,Class only,Unknown,0.0,United Kingdom
1208,Pulmonary atresia-intact ventricular septum syndrome,Point prevalence,Class only,Unknown,0.0,Sweden
1449,Ring chromosome 7 syndrome,Cases/families,Case(s),,18.0,Worldwide
1449,Ring chromosome 7 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1453,Cleidorhizomelic syndrome,Cases/families,Case(s),,2.0,Worldwide
1453,Cleidorhizomelic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1440,Ring chromosome 14 syndrome,Cases/families,Case(s),,80.0,Worldwide
1440,Ring chromosome 14 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1443,Ring chromosome 19 syndrome,Cases/families,Case(s),,10.0,Worldwide
1443,Ring chromosome 19 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141258,Tessier number 4 facial cleft,Cases/families,Case(s),,2.0,Worldwide
141258,Tessier number 4 facial cleft,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1458,CODAS syndrome,Cases/families,Case(s),,26.0,Worldwide
1458,CODAS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141253,Oblique facial cleft,Prevalence at birth,Value and class,1-9 / 1 000 000,0.31,United States
141253,Oblique facial cleft,Point prevalence,Class only,1-9 / 1 000 000,0.0,United States
141253,Oblique facial cleft,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
1454,Joubert syndrome with hepatic defect,Cases/families,Case(s),,8.0,Worldwide
1454,Joubert syndrome with hepatic defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
190,Coats disease,Annual incidence,Value and class,<1 / 1 000 000,0.09,United Kingdom
190,Coats disease,Point prevalence,Class only,Unknown,0.0,Worldwide
1429,Benign hereditary chorea,Point prevalence,Value and class,<1 / 1 000 000,0.02,Worldwide
1426,Greenberg dysplasia,Cases/families,Case(s),,10.0,Worldwide
1426,Greenberg dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141184,Rapidly involuting congenital hemangioma,Point prevalence,Class only,Unknown,0.0,Worldwide
1427,Autosomal recessive otospondylomegaepiphyseal dysplasia,Cases/families,Case(s),,30.0,Worldwide
1427,Autosomal recessive otospondylomegaepiphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1435,Xq21 microdeletion syndrome,Cases/families,Case(s),,13.0,Worldwide
1435,Xq21 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1436,X-linked skeletal dysplasia-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
1436,X-linked skeletal dysplasia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1433,Choroidal atrophy-alopecia syndrome,Cases/families,Case(s),,2.0,Worldwide
1433,Choroidal atrophy-alopecia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1484,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,Cases/families,Case(s),,2.0,Worldwide
1484,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141333,Biemond syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1490,Corneal dystrophy-perceptive deafness syndrome,Cases/families,Case(s),,24.0,Worldwide
1490,Corneal dystrophy-perceptive deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1487,Cooks syndrome,Cases/families,Case(s),,12.0,Worldwide
1487,Cooks syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1486,Lethal congenital contracture syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Finland
1486,Lethal congenital contracture syndrome type 1,Prevalence at birth,Value and class,1-9 / 100 000,3.96,Finland
1466,COFS syndrome,Cases/families,Case(s),,20.0,Worldwide
1466,COFS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1471,Coloboma of macula-brachydactyly type B syndrome,Cases/families,Case(s),,10.0,Worldwide
1471,Coloboma of macula-brachydactyly type B syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141291,Cleft lip and alveolus,Point prevalence,Class only,6-9 / 10 000,0.0,Europe
141091,Polyrrhinia,Point prevalence,Class only,Unknown,0.0,Worldwide
141083,Nasolacrimal duct cyst,Prevalence at birth,Value and class,1-5 / 10 000,25.7,United States
141083,Nasolacrimal duct cyst,Point prevalence,Class only,Unknown,0.0,Europe
1410,Uncombable hair syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
141099,Proboscis lateralis,Point prevalence,Class only,Unknown,0.0,Europe
141096,Supernumerary nostril,Cases/families,Case(s),,32.0,Worldwide
141096,Supernumerary nostril,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1412,Tarsal-carpal coalition syndrome,Cases/families,Family(ies),,10.0,Worldwide
1412,Tarsal-carpal coalition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141115,Nasal ganglioglioma,Cases/families,Case(s),,250.0,Worldwide
141115,Nasal ganglioglioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1416,Familial calcium pyrophosphate deposition,Cases/families,Family(ies),,100.0,Worldwide
1416,Familial calcium pyrophosphate deposition,Point prevalence,Class only,Unknown,0.0,Worldwide
1394,Cerebrofaciothoracic dysplasia,Cases/families,Case(s),,20.0,Worldwide
1394,Cerebrofaciothoracic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1397,Hydrocephaly-cerebellar agenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1397,Hydrocephaly-cerebellar agenesis syndrome,Cases/families,Case(s),,2.0,Worldwide
1398,Isolated cerebellar agenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
1399,Richards-Rundle syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
141077,Epignathus,Point prevalence,Value and class,<1 / 1 000 000,0.0017,Worldwide
141077,Epignathus,Prevalence at birth,Value and class,1-9 / 100 000,1.68,Worldwide
1401,CHAND syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141152,Isolated congenital hypoglossia/aglossia,Point prevalence,Class only,Unknown,0.0,Worldwide
174,"Metaphyseal chondrodysplasia, Schmid type",Point prevalence,Class only,Unknown,0.0,Worldwide
141163,Glossopalatine ankylosis,Cases/families,Case(s),,30.0,Worldwide
141163,Glossopalatine ankylosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1425,Desbuquois syndrome,Cases/families,Case(s),,50.0,Worldwide
1425,Desbuquois syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141179,Non-involuting congenital hemangioma,Point prevalence,Class only,Unknown,0.0,Worldwide
141124,Congenital laryngeal cyst,Prevalence at birth,Value and class,1-9 / 100 000,1.8,Worldwide
141124,Congenital laryngeal cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
141127,Congenital tracheal stenosis,Point prevalence,Class only,Unknown,0.0,Canada
141127,Congenital tracheal stenosis,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Canada
141132,Oculo-auriculo-vertebral spectrum,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
141132,Oculo-auriculo-vertebral spectrum,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
141132,Oculo-auriculo-vertebral spectrum,Point prevalence,Value and class,1-9 / 100 000,4.0,Japan
141132,Oculo-auriculo-vertebral spectrum,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,France
141132,Oculo-auriculo-vertebral spectrum,Prevalence at birth,Value and class,1-5 / 10 000,11.7,Australia
141145,Hemifacial hyperplasia,Point prevalence,Value and class,1-9 / 100 000,1.16,United States
141145,Hemifacial hyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,1.16,United States
141148,Hemifacial myohyperplasia,Cases/families,Case(s),,12.0,Worldwide
141148,Hemifacial myohyperplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",Cases/families,Case(s),,5.0,Worldwide
156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1375,Cataract-hypertrichosis-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
163,Hereditary hyperferritinemia-cataract syndrome,Cases/families,Case(s),,120.0,Worldwide
163,Hereditary hyperferritinemia-cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1373,Cataract-aberrant oral frenula-growth delay syndrome,Cases/families,Case(s),,3.0,Worldwide
1373,Cataract-aberrant oral frenula-growth delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1368,Cataract-ataxia-deafness syndrome,Cases/families,Case(s),,2.0,Worldwide
1368,Cataract-ataxia-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1366,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Cases/families,Case(s),,8.0,Worldwide
1366,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1361,Carnosinase deficiency,Cases/families,Case(s),,24.0,Worldwide
1361,Carnosinase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
1361,Carnosinase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Worldwide
1393,Cerebrocostomandibular syndrome,Cases/families,Case(s),,75.0,Worldwide
1393,Cerebrocostomandibular syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157826,Congenital epulis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
1390,Night blindness-skeletal anomalies-dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
1390,Night blindness-skeletal anomalies-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157820,Cold-induced sweating syndrome,Cases/families,Case(s),,6.0,Worldwide
157820,Cold-induced sweating syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1389,Cortical blindness-intellectual disability-polydactyly syndrome,Cases/families,Case(s),,3.0,Worldwide
1389,Cortical blindness-intellectual disability-polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157798,Serrated polyposis syndrome,Annual incidence,Value and class,1-9 / 100 000,1.0,Worldwide
157798,Serrated polyposis syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
1388,Catel-Manzke syndrome,Cases/families,Case(s),,33.0,Worldwide
1388,Catel-Manzke syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157801,Mesoaxial synostotic syndactyly with phalangeal reduction,Cases/families,Family(ies),,6.0,Worldwide
157801,Mesoaxial synostotic syndactyly with phalangeal reduction,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1387,Cataract-intellectual disability-hypogonadism syndrome,Cases/families,Case(s),,20.0,Worldwide
1387,Cataract-intellectual disability-hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157791,Epithelioid hemangioendothelioma,Point prevalence,Class only,Unknown,0.0,Worldwide
157794,Hereditary mixed polyposis syndrome,Cases/families,Case(s),,15.0,Worldwide
157794,Hereditary mixed polyposis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1380,Cataract-nephropathy-encephalopathy syndrome,Cases/families,Case(s),,2.0,Worldwide
1380,Cataract-nephropathy-encephalopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
156731,"Dyssegmental dysplasia, Rolland-Desbuquois type",Cases/families,Case(s),,5.0,Worldwide
156731,"Dyssegmental dysplasia, Rolland-Desbuquois type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1377,Cataract-microcornea syndrome,Cases/families,Family(ies),,8.0,Worldwide
1377,Cataract-microcornea syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
157215,Hereditary hypophosphatemic rickets with hypercalciuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1325,Camptodactyly-taurinuria syndrome,Cases/families,Case(s),,17.0,Worldwide
1325,Camptodactyly-taurinuria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1326,"Camptodactyly syndrome, Guadalajara type 2",Cases/families,Case(s),,2.0,Worldwide
1326,"Camptodactyly syndrome, Guadalajara type 2",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1327,"Camptodactyly syndrome, Guadalajara type 1",Cases/families,Case(s),,8.0,Worldwide
1327,"Camptodactyly syndrome, Guadalajara type 1",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1328,Camurati-Engelmann disease,Cases/families,Case(s),,300.0,Worldwide
1328,Camurati-Engelmann disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1321,Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
1321,Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1323,Camptodactyly-joint contractures-facial skeletal defects syndrome,Cases/families,Case(s),,4.0,Worldwide
1323,Camptodactyly-joint contractures-facial skeletal defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
156152,Anti-neutrophil cytoplasmic antibody-associated vasculitis,Point prevalence,Value and class,1-5 / 10 000,14.9,Germany
156152,Anti-neutrophil cytoplasmic antibody-associated vasculitis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
156152,Anti-neutrophil cytoplasmic antibody-associated vasculitis,Annual incidence,Value and class,1-9 / 100 000,3.3,United States
156152,Anti-neutrophil cytoplasmic antibody-associated vasculitis,Point prevalence,Value and class,1-5 / 10 000,42.1,United States
1314,Symmetrical thalamic calcifications,Cases/families,Case(s),,30.0,Worldwide
1314,Symmetrical thalamic calcifications,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1318,"Campomelia, Cumming type",Cases/families,Case(s),,8.0,Worldwide
1318,"Campomelia, Cumming type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1319,Camptobrachydactyly,Cases/families,Family(ies),,1.0,Worldwide
1319,Camptobrachydactyly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1305,Feingold syndrome,Cases/families,Case(s),,123.0,Worldwide
1305,Feingold syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1307,Distal limb deficiencies-micrognathia syndrome,Cases/families,Case(s),,6.0,Worldwide
1307,Distal limb deficiencies-micrognathia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1313,Infantile choroidocerebral calcification syndrome,Cases/families,Case(s),,10.0,Worldwide
1313,Infantile choroidocerebral calcification syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1350,Heart-hand syndrome type 2,Cases/families,Family(ies),,2.0,Worldwide
1350,Heart-hand syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1355,Congenital heart defect-round face-developmental delay syndrome,Cases/families,Case(s),,3.0,Worldwide
1355,Congenital heart defect-round face-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1352,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,Cases/families,Case(s),,2.0,Worldwide
1352,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1342,Heart-hand syndrome type 3,Cases/families,Case(s),,4.0,Worldwide
1342,Heart-hand syndrome type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1345,Cardiomyopathy-cataract-hip spine disease syndrome,Cases/families,Case(s),,9.0,Worldwide
1345,Cardiomyopathy-cataract-hip spine disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,Cases/families,Case(s),,4.0,Worldwide
1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1340,Cardiofaciocutaneous syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.12,Japan
1340,Cardiofaciocutaneous syndrome,Cases/families,Case(s),,300.0,Worldwide
1340,Cardiofaciocutaneous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2856,Persistent Müllerian duct syndrome,Cases/families,Case(s),,300.0,Worldwide
2856,Persistent Müllerian duct syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1336,Hyperkeratosis-hyperpigmentation syndrome,Cases/families,Case(s),,10.0,Worldwide
1336,Hyperkeratosis-hyperpigmentation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1335,Pentalogy of Cantrell,Prevalence at birth,Value and class,1-9 / 1 000 000,0.55,Europe
1335,Pentalogy of Cantrell,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1335,Pentalogy of Cantrell,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Worldwide
1682,Arterial dissection-lentiginosis syndrome,Cases/families,Case(s),,4.0,Worldwide
1682,Arterial dissection-lentiginosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1757,Fibular dimelia-diplopodia syndrome,Cases/families,Case(s),,11.0,Worldwide
1757,Fibular dimelia-diplopodia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1756,Caudal duplication,Point prevalence,Class only,Unknown,0.0,Worldwide
1766,Dysequilibrium syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1766,Dysequilibrium syndrome,Cases/families,Case(s),,51.0,Worldwide
1777,Temtamy syndrome,Cases/families,Case(s),,56.0,Worldwide
1777,Temtamy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1780,Thakker-Donnai syndrome,Cases/families,Case(s),,2.0,Worldwide
1780,Thakker-Donnai syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1772,"45,X/46,XY mixed gonadal dysgenesis",Point prevalence,Class only,Unknown,0.0,Worldwide
1784,Acrofrontofacionasal dysostosis,Cases/families,Case(s),,12.0,Worldwide
1784,Acrofrontofacionasal dysostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1782,Dysosteosclerosis,Cases/families,Case(s),,23.0,Worldwide
1782,Dysosteosclerosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1790,Hypomandibular faciocranial dysostosis,Cases/families,Case(s),,3.0,Worldwide
1790,Hypomandibular faciocranial dysostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1786,"Acrofacial dysostosis, Catania type",Cases/families,Family(ies),,2.0,Worldwide
1786,"Acrofacial dysostosis, Catania type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1788,"Acrofacial dysostosis, Rodríguez type",Cases/families,Case(s),,13.0,Worldwide
1788,"Acrofacial dysostosis, Rodríguez type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
859,Transcobalamin deficiency,Cases/families,Case(s),,40.0,Worldwide
859,Transcobalamin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139441,Hypomyelination with atrophy of basal ganglia and cerebellum,Cases/families,Case(s),,216.0,Worldwide
139441,Hypomyelination with atrophy of basal ganglia and cerebellum,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3196,Steroid dehydrogenase deficiency-dental anomalies syndrome,Cases/families,Family(ies),,1.0,Worldwide
3196,Steroid dehydrogenase deficiency-dental anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139444,Leukoencephalopathy with bilateral anterior temporal lobe cysts,Cases/families,Case(s),,29.0,Worldwide
139444,Leukoencephalopathy with bilateral anterior temporal lobe cysts,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139447,Progressive cavitating leukoencephalopathy,Cases/families,Case(s),,19.0,Worldwide
139447,Progressive cavitating leukoencephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1573,Hypotrichosis with juvenile macular degeneration,Cases/families,Case(s),,50.0,Worldwide
1573,Hypotrichosis with juvenile macular degeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
726,Alpers-Huttenlocher syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
726,Alpers-Huttenlocher syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.07,Europe
139450,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,Cases/families,Family(ies),,1.0,Worldwide
139450,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139455,Autosomal recessive bestrophinopathy,Cases/families,Case(s),,20.0,Worldwide
139455,Autosomal recessive bestrophinopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1574,Retinal degeneration-nanophthalmos-glaucoma syndrome,Cases/families,Case(s),,7.0,Worldwide
1574,Retinal degeneration-nanophthalmos-glaucoma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139466,SERKAL syndrome,Cases/families,Case(s),,3.0,Worldwide
139466,SERKAL syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1596,Distal deletion 15q syndrome,Cases/families,Case(s),,30.0,Worldwide
1596,Distal deletion 15q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139471,Microphthalmia with brain and digit anomalies,Cases/families,Family(ies),,2.0,Worldwide
139471,Microphthalmia with brain and digit anomalies,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139474,17q11.2 microduplication syndrome,Cases/families,Case(s),,7.0,Worldwide
139474,17q11.2 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1617,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion,Cases/families,Case(s),,23.0,Worldwide
1617,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1606,1p36 deletion syndrome,Prevalence at birth,Value and class,1-5 / 10 000,15.0,United States
1606,1p36 deletion syndrome,Point prevalence,Value and class,1-5 / 10 000,15.0,United States
139480,Autosomal recessive spastic paraplegia type 39,Cases/families,Family(ies),,2.0,Worldwide
139480,Autosomal recessive spastic paraplegia type 39,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1647,Oculocerebrocutaneous syndrome,Cases/families,Case(s),,38.0,Worldwide
1647,Oculocerebrocutaneous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139485,Autosomal recessive ataxia due to ubiquinone deficiency,Cases/families,Case(s),,31.0,Worldwide
139485,Autosomal recessive ataxia due to ubiquinone deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1653,Dentin dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
139515,Charcot-Marie-Tooth disease type 4J,Cases/families,Case(s),,18.0,Worldwide
139515,Charcot-Marie-Tooth disease type 4J,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139512,Neuropathy with hearing impairment,Cases/families,Family(ies),,1.0,Worldwide
139512,Neuropathy with hearing impairment,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1657,"Dermatoosteolysis, Kirghizian type",Cases/families,Case(s),,5.0,Worldwide
1657,"Dermatoosteolysis, Kirghizian type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139525,Distal hereditary motor neuropathy type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139525,Distal hereditary motor neuropathy type 2,Cases/families,Family(ies),,4.0,Worldwide
1658,Absence of fingerprints-congenital milia syndrome,Cases/families,Family(ies),,10.0,Worldwide
1658,Absence of fingerprints-congenital milia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1659,Dermatoleukodystrophy,Cases/families,Case(s),,2.0,Worldwide
1659,Dermatoleukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139547,Distal spinal muscular atrophy type 3,Cases/families,Case(s),,28.0,Worldwide
139547,Distal spinal muscular atrophy type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1660,Dermoodontodysplasia,Cases/families,Case(s),,11.0,Worldwide
1660,Dermoodontodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139557,X-linked distal spinal muscular atrophy type 3,Cases/families,Family(ies),,2.0,Worldwide
139557,X-linked distal spinal muscular atrophy type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1661,X-linked corneal dermoid,Cases/families,Case(s),,6.0,Worldwide
1661,X-linked corneal dermoid,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1662,Restrictive dermopathy,Cases/families,Case(s),,30.0,Worldwide
1662,Restrictive dermopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139552,"Distal hereditary motor neuropathy, Jerash type",Cases/families,Case(s),,30.0,Worldwide
139552,"Distal hereditary motor neuropathy, Jerash type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139573,Hereditary sensory and autonomic neuropathy with deafness and global delay,Cases/families,Case(s),,4.0,Worldwide
139573,Hereditary sensory and autonomic neuropathy with deafness and global delay,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1665,Sporadic fetal brain disruption sequence,Cases/families,Case(s),,20.0,Worldwide
1665,Sporadic fetal brain disruption sequence,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139564,Hereditary sensory and autonomic neuropathy type 1B,Cases/families,Family(ies),,2.0,Worldwide
139564,Hereditary sensory and autonomic neuropathy type 1B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139583,X-linked hereditary sensory and autonomic neuropathy with deafness,Cases/families,Family(ies),,5.0,Worldwide
139583,X-linked hereditary sensory and autonomic neuropathy with deafness,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1667,Wolcott-Rallison syndrome,Cases/families,Case(s),,60.0,Worldwide
1667,Wolcott-Rallison syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,Cases/families,Case(s),,14.0,Worldwide
139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1671,Split cord malformation type I,Point prevalence,Class only,Unknown,0.0,Worldwide
140917,Stapes ankylosis with broad thumbs and toes,Cases/families,Family(ies),,6.0,Worldwide
140917,Stapes ankylosis with broad thumbs and toes,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1548,Cryptorchidism-arachnodactyly-intellectual disability syndrome,Cases/families,Case(s),,3.0,Worldwide
1548,Cryptorchidism-arachnodactyly-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1547,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,Cases/families,Case(s),,2.0,Worldwide
1547,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140922,Titin-related limb-girdle muscular dystrophy R10,Cases/families,Family(ies),,1.0,Worldwide
140922,Titin-related limb-girdle muscular dystrophy R10,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1545,Crisponi syndrome,Cases/families,Case(s),,30.0,Worldwide
1545,Crisponi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1540,Jackson-Weiss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1540,Jackson-Weiss syndrome,Cases/families,Case(s),,200.0,Worldwide
140874,Joubert syndrome and related disorders,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Worldwide
140874,Joubert syndrome and related disorders,Prevalence at birth,Value and class,1-9 / 100 000,1.0,United States
140874,Joubert syndrome and related disorders,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Netherlands
140874,Joubert syndrome and related disorders,Point prevalence,Value and class,>1 / 1000,666.67,North America
140874,Joubert syndrome and related disorders,Point prevalence,Class only,Unknown,0.0,Worldwide
140896,Severe acute respiratory syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
140896,Severe acute respiratory syndrome,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
1532,Gómez-López-Hernández syndrome,Cases/families,Case(s),,36.0,Worldwide
1532,Gómez-López-Hernández syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,Cases/families,Case(s),,7.0,Worldwide
140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140957,Autosomal dominant macrothrombocytopenia,Cases/families,Case(s),,100.0,Worldwide
140957,Autosomal dominant macrothrombocytopenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140944,CLOVES syndrome,Cases/families,Case(s),,150.0,Worldwide
140944,CLOVES syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140949,Low-flow priapism,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,Cases/families,Case(s),,12.0,Worldwide
1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140936,Lelis syndrome,Cases/families,Case(s),,9.0,Worldwide
140936,Lelis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140941,Short stature due to primary acid-labile subunit deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1553,Curry-Jones syndrome,Cases/families,Case(s),,9.0,Worldwide
1553,Curry-Jones syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140927,Self-limited neonatal-infantile epilepsy,Cases/families,Family(ies),,10.0,Worldwide
140927,Self-limited neonatal-infantile epilepsy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140933,Linear atrophoderma of Moulin,Cases/families,Case(s),,30.0,Worldwide
140933,Linear atrophoderma of Moulin,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140989,Primary angiitis of the central nervous system,Annual incidence,Value and class,1-9 / 1 000 000,0.24,United States
140989,Primary angiitis of the central nervous system,Point prevalence,Class only,Unknown,0.0,Worldwide
1566,Dandy-Walker malformation-postaxial polydactyly syndrome,Cases/families,Case(s),,5.0,Worldwide
1566,Dandy-Walker malformation-postaxial polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140976,RHYNS syndrome,Cases/families,Case(s),,4.0,Worldwide
140976,RHYNS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1563,Dahlberg-Borer-Newcomer syndrome,Cases/families,Case(s),,2.0,Worldwide
1563,Dahlberg-Borer-Newcomer syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140969,Saldino-Mainzer syndrome,Cases/families,Case(s),,13.0,Worldwide
140969,Saldino-Mainzer syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140966,"Palmoplantar keratoderma, Nagashima type",Cases/families,Case(s),,40.0,Worldwide
140966,"Palmoplantar keratoderma, Nagashima type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140963,Bilateral microtia-deafness-cleft palate syndrome,Cases/families,Family(ies),,3.0,Worldwide
140963,Bilateral microtia-deafness-cleft palate syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
382,Guanidinoacetate methyltransferase deficiency,Cases/families,Case(s),,80.0,Worldwide
382,Guanidinoacetate methyltransferase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
742,Prolidase deficiency,Cases/families,Case(s),,90.0,Worldwide
742,Prolidase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
742,Prolidase deficiency,Prevalence at birth,Value and class,<1 / 1 000 000,0.08,Canada
1979,Lipodystrophy due to peptidic growth factors deficiency,Cases/families,Family(ies),,1.0,Worldwide
1979,Lipodystrophy due to peptidic growth factors deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1571,Knobloch syndrome,Cases/families,Case(s),,119.0,Worldwide
1571,Knobloch syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141007,Orofaciodigital syndrome type 9,Cases/families,Case(s),,10.0,Worldwide
141007,Orofaciodigital syndrome type 9,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1551,Familial benign copper deficiency,Cases/families,Family(ies),,1.0,Worldwide
1551,Familial benign copper deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,Cases/families,Case(s),,10.0,Worldwide
1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
141000,Orofaciodigital syndrome type 11,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1497,X-linked complicated corpus callosum dysgenesis,Cases/families,Case(s),,11.0,Worldwide
1497,X-linked complicated corpus callosum dysgenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1493,Vici syndrome,Cases/families,Case(s),,50.0,Worldwide
1493,Vici syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140286,Secondary hypoparathyroidism due to impaired parathormon secretion,Point prevalence,Value and class,1-5 / 10 000,24.75,Europe
140286,Secondary hypoparathyroidism due to impaired parathormon secretion,Annual incidence,Class only,Unknown,0.0,Europe
140286,Secondary hypoparathyroidism due to impaired parathormon secretion,Annual incidence,Value and class,1-9 / 1 000 000,0.8,Denmark
140286,Secondary hypoparathyroidism due to impaired parathormon secretion,Annual incidence,Value and class,1-9 / 100 000,1.7,Spain
1495,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,Cases/families,Case(s),,3.0,Worldwide
1495,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1509,Coxopodopatellar syndrome,Cases/families,Case(s),,47.0,Worldwide
1509,Coxopodopatellar syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1512,Crane-Heise syndrome,Cases/families,Case(s),,9.0,Worldwide
1512,Crane-Heise syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1506,Thin ribs-tubular bones-dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
1506,Thin ribs-tubular bones-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1508,Coxoauricular syndrome,Cases/families,Case(s),,4.0,Worldwide
1508,Coxoauricular syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1507,Autosomal recessive Robinow syndrome,Cases/families,Case(s),,100.0,Worldwide
1507,Autosomal recessive Robinow syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1517,Cantú syndrome,Cases/families,Case(s),,50.0,Worldwide
1517,Cantú syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1519,SPECC1L-related hypertelorism syndrome,Cases/families,Case(s),,25.0,Worldwide
1519,SPECC1L-related hypertelorism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1520,Craniofrontonasal dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
1513,Craniodiaphyseal dysplasia,Cases/families,Case(s),,20.0,Worldwide
1513,Craniodiaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1514,Craniodigital-intellectual disability syndrome,Cases/families,Case(s),,5.0,Worldwide
1514,Craniodigital-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
140481,Autosomal dominant slowed nerve conduction velocity,Cases/families,Family(ies),,1.0,Worldwide
140481,Autosomal dominant slowed nerve conduction velocity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1515,Cranioectodermal dysplasia,Cases/families,Case(s),,60.0,Worldwide
1515,Cranioectodermal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1516,Non-syndromic bilambdoid and sagittal craniosynostosis,Cases/families,Case(s),,14.0,Worldwide
1516,Non-syndromic bilambdoid and sagittal craniosynostosis,Prevalence at birth,Class only,<1 / 1 000 000,0.0,Worldwide
1516,Non-syndromic bilambdoid and sagittal craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1516,Non-syndromic bilambdoid and sagittal craniosynostosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Spain
1527,"Craniosynostosis, Philadelphia type",Cases/families,Family(ies),,1.0,Worldwide
1527,"Craniosynostosis, Philadelphia type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1528,Craniotelencephalic dysplasia,Cases/families,Case(s),,4.0,Worldwide
1528,Craniotelencephalic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1529,Craniofacial-deafness-hand syndrome,Cases/families,Case(s),,3.0,Worldwide
1529,Craniofacial-deafness-hand syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1521,Craniofrontonasal dysplasia-Poland anomaly syndrome,Cases/families,Case(s),,2.0,Worldwide
1521,Craniofrontonasal dysplasia-Poland anomaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1522,Craniometaphyseal dysplasia,Cases/families,Case(s),,160.0,Worldwide
1522,Craniometaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1525,Cranio-osteoarthropathy,Cases/families,Case(s),,30.0,Worldwide
1525,Cranio-osteoarthropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1969,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
1969,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1968,Flat face-microstomia-ear anomaly syndrome,Cases/families,Case(s),,2.0,Worldwide
1968,Flat face-microstomia-ear anomaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1970,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,Cases/families,Case(s),,3.0,Worldwide
1970,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1973,Faciocardiorenal syndrome,Cases/families,Case(s),,4.0,Worldwide
1973,Faciocardiorenal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1972,Lethal faciocardiomelic dysplasia,Cases/families,Case(s),,3.0,Worldwide
1972,Lethal faciocardiomelic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1974,Autosomal recessive faciodigitogenital syndrome,Cases/families,Case(s),,26.0,Worldwide
1974,Autosomal recessive faciodigitogenital syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1962,Exostoses-anetodermia-brachydactyly type E syndrome,Cases/families,Family(ies),,1.0,Worldwide
1962,Exostoses-anetodermia-brachydactyly type E syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1964,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,Cases/families,Case(s),,2.0,Worldwide
1964,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1822,Dysplasia epiphysealis hemimelica,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Worldwide
1822,Dysplasia epiphysealis hemimelica,Point prevalence,Class only,Unknown,0.0,Worldwide
1824,Lowry-Wood syndrome,Cases/families,Case(s),,8.0,Worldwide
1824,Lowry-Wood syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1952,Epiphyseal stippling-osteoclastic hyperplasia syndrome,Cases/families,Case(s),,4.0,Worldwide
1952,Epiphyseal stippling-osteoclastic hyperplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1954,Congenital lethal erythroderma,Cases/families,Case(s),,17.0,Worldwide
1954,Congenital lethal erythroderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1955,Spinocerebellar ataxia type 34,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1955,Spinocerebellar ataxia type 34,Cases/families,Case(s),,45.0,Worldwide
1926,Diabetic embryopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
2209,Maternal phenylketonuria syndrome,Point prevalence,Class only,Unknown,0.0,Europe
2209,Maternal phenylketonuria syndrome,Annual incidence,Value and class,1-5 / 10 000,10.0,Europe
1927,Emery-Nelson syndrome,Cases/families,Case(s),,2.0,Worldwide
1927,Emery-Nelson syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1937,Eng-Strom syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1937,Eng-Strom syndrome,Cases/families,Case(s),,2.0,Worldwide
1920,Toluene embryopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
1919,Phenobarbital embryopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
1917,Fetal methylmercury syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1923,Methimazole embryofetopathy,Cases/families,Case(s),,40.0,Worldwide
1923,Methimazole embryofetopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1912,Fetal hydantoin syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1918,Fetal minoxidil syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1911,Cocaine embryofetopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
1910,Fetal iodine syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1916,Diethylstilbestrol syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
294,Fetal cytomegalovirus syndrome,Point prevalence,Value and class,1-5 / 10 000,40.0,Europe
1914,Vitamin K antagonist embryofetopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
1913,Fetal trimethadione syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1896,EEC syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.11,Europe
1896,EEC syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
1897,EEM syndrome,Cases/families,Family(ies),,7.0,Worldwide
1897,EEM syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1908,Aminopterin/methotrexate embryofetopathy,Cases/families,Case(s),,17.0,Worldwide
1908,Aminopterin/methotrexate embryofetopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1909,Indomethacin embryofetopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
1906,Fetal valproate spectrum disorder,Point prevalence,Class only,Unknown,0.0,Worldwide
1906,Fetal valproate spectrum disorder,Prevalence at birth,Value and class,1-9 / 100 000,1.02,Europe
1906,Fetal valproate spectrum disorder,Prevalence at birth,Value and class,1-5 / 10 000,11.7,Reunion
1906,Fetal valproate spectrum disorder,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Belgium
1906,Fetal valproate spectrum disorder,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Netherlands
1906,Fetal valproate spectrum disorder,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Switzerland
1906,Fetal valproate spectrum disorder,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Germany
1906,Fetal valproate spectrum disorder,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Ireland
1895,Edinburgh malformation syndrome,Cases/families,Family(ies),,2.0,Worldwide
1895,Edinburgh malformation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1891,Intellectual disability-spasticity-ectrodactyly syndrome,Cases/families,Case(s),,3.0,Worldwide
1891,Intellectual disability-spasticity-ectrodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1892,Ectrodactyly-polydactyly syndrome,Cases/families,Family(ies),,1.0,Worldwide
1892,Ectrodactyly-polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1816,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,Cases/families,Case(s),,4.0,Worldwide
1816,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1807,Focal facial dermal dysplasia type III,Point prevalence,Class only,Unknown,0.0,Worldwide
1807,Focal facial dermal dysplasia type III,Cases/families,Case(s),,20.0,Worldwide
1818,"Ectodermal dysplasia, trichoodontoonychial type",Cases/families,Case(s),,7.0,Worldwide
1818,"Ectodermal dysplasia, trichoodontoonychial type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1883,Ectodermal dysplasia-sensorineural deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1883,Ectodermal dysplasia-sensorineural deafness syndrome,Cases/families,Case(s),,2.0,Worldwide
1882,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,Cases/families,Case(s),,3.0,Worldwide
1882,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1875,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1875,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,Cases/families,Case(s),,7.0,Worldwide
1873,Jalili syndrome,Point prevalence,Value and class,1-9 / 100 000,8.3,"Palestinian Territory, occupied"
1873,Jalili syndrome,Cases/families,Case(s),,49.0,Worldwide
1873,Jalili syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1879,Melorheostosis with osteopoikilosis,Cases/families,Family(ies),,5.0,Worldwide
1879,Melorheostosis with osteopoikilosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1867,"Hereditary bullous dystrophy, macular type",Cases/families,Family(ies),,2.0,Worldwide
1867,"Hereditary bullous dystrophy, macular type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1872,Cone rod dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.5,Europe
1871,Progressive cone dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
1860,Thanatophoric dysplasia type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
1861,Thoracic dysplasia-hydrocephalus syndrome,Cases/families,Case(s),,2.0,Worldwide
1861,Thoracic dysplasia-hydrocephalus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1865,"Dyssegmental dysplasia, Silverman-Handmaker type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1858,Skeletal dysplasia-epilepsy-short stature syndrome,Cases/families,Case(s),,7.0,Worldwide
1858,Skeletal dysplasia-epilepsy-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254,Spondylometaphyseal dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
254,Spondylometaphyseal dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
1852,OBSOLETE: X-linked retinal dysplasia,Cases/families,Case(s),,8.0,Worldwide
1852,OBSOLETE: X-linked retinal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1842,"Bone dysplasia, lethal Holmgren type",Cases/families,Case(s),,7.0,Worldwide
1842,"Bone dysplasia, lethal Holmgren type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1839,Hereditary mucoepithelial dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
1837,"Metaphyseal chondrodysplasia, Rosenberg type",Cases/families,Case(s),,3.0,Worldwide
1837,"Metaphyseal chondrodysplasia, Rosenberg type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1836,"Mesomelic dysplasia, Kantaputra type",Cases/families,Family(ies),,5.0,Worldwide
1836,"Mesomelic dysplasia, Kantaputra type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1834,Axial mesodermal dysplasia spectrum,Point prevalence,Class only,Unknown,0.0,Worldwide
1830,Schimke immuno-osseous dysplasia,Cases/families,Case(s),,133.0,Worldwide
1830,Schimke immuno-osseous dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1825,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
1825,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251,Multiple epiphyseal dysplasia,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
1811,Odontomicronychial dysplasia,Cases/families,Case(s),,5.0,Worldwide
1811,Odontomicronychial dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1812,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",Cases/families,Case(s),,6.0,Worldwide
1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1809,"Hidrotic ectodermal dysplasia, Halal type",Cases/families,Case(s),,4.0,Worldwide
1809,"Hidrotic ectodermal dysplasia, Halal type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1806,Ectodermal dysplasia-blindness syndrome,Cases/families,Case(s),,2.0,Worldwide
1806,Ectodermal dysplasia-blindness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1802,Ghosal hematodiaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1803,Thoracomelic dysplasia,Cases/families,Case(s),,2.0,Worldwide
1803,Thoracomelic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1798,Craniofacial dysostosis-diaphyseal hyperplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1799,Familial developmental dysphasia,Cases/families,Family(ies),,6.0,Worldwide
1799,Familial developmental dysphasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1794,Oculomaxillofacial dysostosis,Cases/families,Case(s),,4.0,Worldwide
1794,Oculomaxillofacial dysostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2128,Isolated hemihyperplasia,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Worldwide
2128,Isolated hemihyperplasia,Point prevalence,Value and class,1-9 / 100 000,5.0,Worldwide
2130,Non-syndromic hemimelia,Point prevalence,Value and class,1-9 / 100 000,4.15,Europe
2136,Hennekam syndrome,Cases/families,Case(s),,50.0,Worldwide
2136,Hennekam syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2138,"46,XX ovotesticular difference of sex development",Cases/families,Case(s),,500.0,Worldwide
2138,"46,XX ovotesticular difference of sex development",Prevalence at birth,Value and class,1-9 / 100 000,2.5,Worldwide
2138,"46,XX ovotesticular difference of sex development",Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2139,Hernández-Aguirre Negrete syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2141,Diaphragmatic defect-limb deficiency-skull defect syndrome,Cases/families,Case(s),,7.0,Worldwide
2141,Diaphragmatic defect-limb deficiency-skull defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2143,Donnai-Barrow syndrome,Cases/families,Case(s),,50.0,Worldwide
2143,Donnai-Barrow syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2145,"Craniosynostosis, Herrmann-Opitz type",Cases/families,Case(s),,2.0,Worldwide
2145,"Craniosynostosis, Herrmann-Opitz type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2149,Nodular neuronal heterotopia,Point prevalence,Class only,Unknown,0.0,Worldwide
2148,Lissencephaly type 1 due to doublecortin gene mutation,Point prevalence,Class only,Unknown,0.0,Worldwide
158048,Hemophagocytic syndrome associated with an infection,Point prevalence,Class only,Unknown,0.0,Worldwide
158057,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2108,Hallermann-Streiff syndrome,Cases/families,Case(s),,150.0,Worldwide
2108,Hallermann-Streiff syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2108,Hallermann-Streiff syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Japan
158061,Macrophage activation syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2107,Hall-Riggs syndrome,Cases/families,Case(s),,8.0,Worldwide
2107,Hall-Riggs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2110,Hallux varus-preaxial polysyndactyly syndrome,Cases/families,Case(s),,2.0,Worldwide
2110,Hallux varus-preaxial polysyndactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2109,Hallermann-Streiff-like syndrome,Cases/families,Case(s),,2.0,Worldwide
2109,Hallermann-Streiff-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2111,Cystic hamartoma of lung and kidney,Cases/families,Case(s),,3.0,Worldwide
2111,Cystic hamartoma of lung and kidney,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158266,Huntington disease-like syndrome,Point prevalence,Value and class,1-9 / 100 000,1.85,Brazil
2115,Harrod syndrome,Cases/families,Case(s),,3.0,Worldwide
2115,Harrod syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2114,"Hip dysplasia, Beukes type",Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2994,Short stature-craniofacial anomalies-genital hypoplasia syndrome,Cases/families,Family(ies),,3.0,Worldwide
2994,Short stature-craniofacial anomalies-genital hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2117,Hartsfield syndrome,Cases/families,Case(s),,35.0,Worldwide
2117,Hartsfield syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2119,HEC syndrome,Cases/families,Case(s),,2.0,Worldwide
2119,HEC syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2123,Multifocal infantile hemangioma with extracutenous involvement,Cases/families,Case(s),,70.0,Worldwide
2123,Multifocal infantile hemangioma with extracutenous involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157997,Benign cephalic histiocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2090,GMS syndrome,Cases/families,Family(ies),,1.0,Worldwide
2090,GMS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2091,Multinodular goiter-cystic kidney-polydactyly syndrome,Cases/families,Case(s),,3.0,Worldwide
2091,Multinodular goiter-cystic kidney-polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157991,Generalized eruptive histiocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
376,Gordon syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2092,Focal dermal hypoplasia,Cases/families,Case(s),,300.0,Worldwide
2092,Focal dermal hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158000,Juvenile xanthogranuloma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Germany
158000,Juvenile xanthogranuloma,Point prevalence,Value and class,<1 / 1 000 000,0.0225,Germany
2098,"Acromesomelic dysplasia, Grebe type",Point prevalence,Class only,Unknown,0.0,Worldwide
158025,Hereditary progressive mucinous histiocytosis,Cases/families,Case(s),,18.0,Worldwide
158025,Hereditary progressive mucinous histiocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
380,Greig cephalopolysyndactyly syndrome,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Europe
380,Greig cephalopolysyndactyly syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2095,Gorlin-Chaudhry-Moss syndrome,Cases/families,Case(s),,7.0,Worldwide
2095,Gorlin-Chaudhry-Moss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158014,Rosaï-Dorfman disease,Cases/families,Case(s),,1000.0,Worldwide
158014,Rosaï-Dorfman disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2097,Grant syndrome,Cases/families,Family(ies),,1.0,Worldwide
2097,Grant syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2101,Grubben-de Cock-Borghgraef syndrome,Cases/families,Case(s),,3.0,Worldwide
2101,Grubben-de Cock-Borghgraef syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2104,Dysmorphism-pectus carinatum-joint laxity syndrome,Cases/families,Case(s),,2.0,Worldwide
2104,Dysmorphism-pectus carinatum-joint laxity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158032,Hemophagocytic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
158032,Hemophagocytic syndrome,Annual incidence,Value and class,1-9 / 100 000,0.198,United Kingdom
2069,Gastrocutaneous syndrome,Cases/families,Case(s),,24.0,Worldwide
2069,Gastrocutaneous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157846,Neuroferritinopathy,Cases/families,Case(s),,90.0,Worldwide
157846,Neuroferritinopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157832,Craniorhiny,Cases/families,Case(s),,4.0,Worldwide
157832,Craniorhiny,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2067,GAPO syndrome,Cases/families,Case(s),,60.0,Worldwide
2067,GAPO syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157835,Paroxysmal hemicrania,Point prevalence,Class only,Unknown,0.0,Europe
2065,Galloway-Mowat syndrome,Cases/families,Case(s),,159.0,Worldwide
2065,Galloway-Mowat syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Worldwide
2075,Genitopalatocardiac syndrome,Cases/families,Case(s),,15.0,Worldwide
2075,Genitopalatocardiac syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2074,Gemignani syndrome,Cases/families,Case(s),,2.0,Worldwide
2074,Gemignani syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157850,Pantothenate kinase-associated neurodegeneration,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Europe
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Cases/families,Case(s),,10.0,Worldwide
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157954,ANE syndrome,Cases/families,Case(s),,5.0,Worldwide
157954,ANE syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157962,"Oculoauricular syndrome, Schorderet type",Cases/families,Case(s),,5.0,Worldwide
157962,"Oculoauricular syndrome, Schorderet type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157946,Huntington disease-like 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2078,Geroderma osteodysplastica,Cases/families,Case(s),,50.0,Worldwide
2078,Geroderma osteodysplastica,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2077,German syndrome,Cases/families,Case(s),,5.0,Worldwide
2077,German syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157973,Congenital muscular dystrophy due to LMNA mutation,Cases/families,Case(s),,23.0,Worldwide
157973,Congenital muscular dystrophy due to LMNA mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2085,Glaucoma-sleep apnea syndrome,Cases/families,Case(s),,5.0,Worldwide
2085,Glaucoma-sleep apnea syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,Cases/families,Case(s),,3.0,Worldwide
2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,Cases/families,Case(s),,8.0,Worldwide
157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2083,Prominent glabella-microcephaly-hypogenitalism syndrome,Cases/families,Case(s),,2.0,Worldwide
2083,Prominent glabella-microcephaly-hypogenitalism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1791,Frontofacionasal dysplasia,Cases/families,Case(s),,14.0,Worldwide
1791,Frontofacionasal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1826,Frontometaphyseal dysplasia,Cases/families,Case(s),,100.0,Worldwide
1826,Frontometaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2047,Flynn-Aird syndrome,Cases/families,Case(s),,10.0,Worldwide
2047,Flynn-Aird syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2048,Foix-Chavany-Marie syndrome,Cases/families,Case(s),,150.0,Worldwide
2048,Foix-Chavany-Marie syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2050,Cole-Carpenter syndrome,Cases/families,Case(s),,3.0,Worldwide
2050,Cole-Carpenter syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2063,Splenogonadal fusion-limb defects-micrognathia syndrome,Cases/families,Case(s),,30.0,Worldwide
2063,Splenogonadal fusion-limb defects-micrognathia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2064,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,Cases/families,Case(s),,3.0,Worldwide
2064,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
250,Frontonasal dysplasia,Point prevalence,Class only,Unknown,0.0,Europe
250,Frontonasal dysplasia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
2057,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,Cases/families,Case(s),,6.0,Worldwide
2057,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2059,Fryns syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.0,France
2059,Fryns syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2059,Fryns syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.0,Europe
2026,Gingival fibromatosis-hypertrichosis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2025,Gingival fibromatosis-facial dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
2025,Gingival fibromatosis-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2028,Juvenile hyaline fibromatosis,Cases/families,Case(s),,70.0,Worldwide
2028,Juvenile hyaline fibromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2027,Gingival fibromatosis-progressive deafness syndrome,Cases/families,Family(ies),,2.0,Worldwide
2027,Gingival fibromatosis-progressive deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2021,Fibrochondrogenesis,Cases/families,Case(s),,20.0,Worldwide
2021,Fibrochondrogenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2019,Femur-fibula-ulna complex,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Europe
2019,Femur-fibula-ulna complex,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2024,Hereditary gingival fibromatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2022,Endocardial fibroelastosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2824,Paraplegia-intellectual disability-hyperkeratosis syndrome,Cases/families,Case(s),,6.0,Worldwide
2824,Paraplegia-intellectual disability-hyperkeratosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2045,FLOTCH syndrome,Cases/families,Family(ies),,6.0,Worldwide
2045,FLOTCH syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2044,Floating-Harbor syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2031,Hepatic fibrosis-renal cysts-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
2031,Hepatic fibrosis-renal cysts-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2036,Scalp-ear-nipple syndrome,Cases/families,Case(s),,30.0,Worldwide
2036,Scalp-ear-nipple syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2006,Median cleft lip/mandible,Cases/families,Case(s),,70.0,Worldwide
2006,Median cleft lip/mandible,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2007,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,Cases/families,Case(s),,2.0,Worldwide
2007,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2003,Cleft lip/palate-deafness-sacral lipoma syndrome,Cases/families,Case(s),,2.0,Worldwide
2003,Cleft lip/palate-deafness-sacral lipoma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158687,Lethal acantholytic erosive disorder,Cases/families,Case(s),,4.0,Worldwide
158687,Lethal acantholytic erosive disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158684,Epidermolysis bullosa simplex with pyloric atresia,Point prevalence,Class only,Unknown,0.0,Worldwide
2004,Laryngotracheoesophageal cleft,Prevalence at birth,Value and class,1-9 / 100 000,7.5,Europe
2004,Laryngotracheoesophageal cleft,Point prevalence,Class only,Unknown,0.0,Worldwide
2001,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,Cases/families,Case(s),,5.0,Worldwide
2001,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158681,Epidermolysis bullosa simplex with circinate migratory erythema,Point prevalence,Class only,Unknown,0.0,Worldwide
158676,"Localized dystrophic epidermolysis bullosa, nails only",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158676,"Localized dystrophic epidermolysis bullosa, nails only",Cases/families,Family(ies),,10.0,Worldwide
158673,"Localized dystrophic epidermolysis bullosa, acral form",Cases/families,Family(ies),,10.0,Worldwide
158673,"Localized dystrophic epidermolysis bullosa, acral form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158668,Ectodermal dysplasia-skin fragility syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2016,Cleft palate-lateral synechia syndrome,Cases/families,Case(s),,11.0,Worldwide
2016,Cleft palate-lateral synechia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2017,Sternal cleft,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
2017,Sternal cleft,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2013,Cleft palate-large ears-small head syndrome,Cases/families,Case(s),,8.0,Worldwide
2013,Cleft palate-large ears-small head syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2010,Cleft palate-stapes fixation-oligodontia syndrome,Cases/families,Case(s),,2.0,Worldwide
2010,Cleft palate-stapes fixation-oligodontia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
158775,Smoldering systemic mastocytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2008,Acrocardiofacial syndrome,Cases/families,Case(s),,10.0,Worldwide
2008,Acrocardiofacial syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1987,Isolated femoral agenesis/hypoplasia,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Worldwide
1987,Isolated femoral agenesis/hypoplasia,Point prevalence,Value and class,1-9 / 100 000,1.6,Worldwide
1986,Gollop-Wolfgang complex,Cases/families,Case(s),,200.0,Worldwide
1986,Gollop-Wolfgang complex,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Worldwide
1980,Bilateral striopallidodentate calcinosis,Cases/families,Case(s),,200.0,Worldwide
1980,Bilateral striopallidodentate calcinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1997,Blepharo-cheilo-odontic syndrome,Cases/families,Case(s),,55.0,Worldwide
1997,Blepharo-cheilo-odontic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1995,OBSOLETE: Cleft lip-retinopathy syndrome,Cases/families,Case(s),,2.0,Worldwide
1995,OBSOLETE: Cleft lip-retinopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1993,Pai syndrome,Cases/families,Case(s),,67.0,Worldwide
1993,Pai syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1988,Femoral-facial syndrome,Cases/families,Case(s),,68.0,Worldwide
1988,Femoral-facial syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2348,"Familial partial lipodystrophy, Dunnigan type",Point prevalence,Class only,Unknown,0.0,Worldwide
247775,Mayer-Rokitansky-Küster-Hauser syndrome type 1,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
247768,Müllerian aplasia and hyperandrogenism,Point prevalence,Class only,Unknown,0.0,Worldwide
2351,Kousseff syndrome,Cases/families,Case(s),,8.0,Worldwide
2351,Kousseff syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2353,Schilbach-Rott syndrome,Cases/families,Case(s),,18.0,Worldwide
2353,Schilbach-Rott syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247790,FTH1-related iron overload,Cases/families,Case(s),,4.0,Worldwide
247790,FTH1-related iron overload,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247794,Juvenile cataract-microcornea-renal glucosuria syndrome,Cases/families,Case(s),,12.0,Worldwide
247794,Juvenile cataract-microcornea-renal glucosuria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247815,Autosomal recessive ataxia due to PEX10 deficiency,Cases/families,Case(s),,6.0,Worldwide
247815,Autosomal recessive ataxia due to PEX10 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2363,Lacrimoauriculodentodigital syndrome,Cases/families,Case(s),,100.0,Worldwide
2363,Lacrimoauriculodentodigital syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247691,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Point prevalence,Class only,Unknown,0.0,Worldwide
2340,Keratosis follicularis spinulosa decalvans,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
247685,Odontohypophosphatasia,Point prevalence,Class only,Unknown,0.0,Worldwide
247709,Multiple endocrine neoplasia type 2B,Point prevalence,Class only,Unknown,0.0,Worldwide
2342,Haim-Munk syndrome,Cases/families,Case(s),,100.0,Worldwide
2342,Haim-Munk syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
485,Kniest dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
247762,Lipoblastoma,Point prevalence,Class only,Unknown,0.0,Worldwide
2347,Lethal Kniest-like dysplasia,Cases/families,Case(s),,2.0,Worldwide
2347,Lethal Kniest-like dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247585,Citrullinemia type II,Point prevalence,Class only,Unknown,0.0,Worldwide
2333,Kenny-Caffey syndrome,Cases/families,Case(s),,65.0,Worldwide
2333,Kenny-Caffey syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247598,Neonatal intrahepatic cholestasis due to citrin deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
2332,KBG syndrome,Cases/families,Case(s),,164.0,Worldwide
2332,KBG syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247604,Juvenile primary lateral sclerosis,Cases/families,Case(s),,4.0,Worldwide
247604,Juvenile primary lateral sclerosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
247623,Perinatal lethal hypophosphatasia,Point prevalence,Class only,Unknown,0.0,Worldwide
247638,Prenatal benign hypophosphatasia,Point prevalence,Class only,Unknown,0.0,Worldwide
2337,"Diffuse palmoplantar keratoderma, Bothnian type",Point prevalence,Value and class,1-9 / 100 000,2.5,Europe
247651,Infantile hypophosphatasia,Point prevalence,Class only,Unknown,0.0,Worldwide
247667,Childhood-onset hypophosphatasia,Point prevalence,Class only,Unknown,0.0,Worldwide
2339,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,Cases/families,Case(s),,6.0,Worldwide
2339,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247676,Adult hypophosphatasia,Point prevalence,Class only,Unknown,0.0,Worldwide
494,Keratoderma hereditarium mutilans,Cases/families,Case(s),,50.0,Worldwide
494,Keratoderma hereditarium mutilans,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2322,Kabuki syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.16,New Zealand
2322,Kabuki syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.16,Australia
2322,Kabuki syndrome,Point prevalence,Value and class,1-9 / 100 000,3.1,Europe
2322,Kabuki syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.1,Japan
247378,Autosomal recessive secondary polycythemia not associated with VHL gene,Point prevalence,Class only,Unknown,0.0,Worldwide
2321,Jung syndrome,Cases/families,Case(s),,2.0,Worldwide
2321,Jung syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2324,Osteopenia-intellectual disability-sparse hair syndrome,Cases/families,Case(s),,2.0,Worldwide
2324,Osteopenia-intellectual disability-sparse hair syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247511,Autosomal dominant secondary polycythemia,Point prevalence,Class only,Unknown,0.0,Worldwide
2323,Sanjad-Sakati syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Cases/families,Case(s),,20.0,Worldwide
247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247525,Citrullinemia type I,Point prevalence,Value and class,1-9 / 100 000,2.4,Europe
247525,Citrullinemia type I,Prevalence at birth,Value and class,1-9 / 100 000,1.28,Austria
247525,Citrullinemia type I,Prevalence at birth,Value and class,1-9 / 100 000,4.5,"Korea, Republic of"
247525,Citrullinemia type I,Prevalence at birth,Value and class,1-9 / 1 000 000,0.84,"Taiwan, Province of China"
247525,Citrullinemia type I,Prevalence at birth,Value and class,1-9 / 100 000,1.13,United States
2325,Epidermolysis bullosa simplex with anodontia/hypodontia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2325,Epidermolysis bullosa simplex with anodontia/hypodontia,Cases/families,Case(s),,5.0,Worldwide
2329,Karsch-Neugebauer syndrome,Cases/families,Case(s),,11.0,Worldwide
2329,Karsch-Neugebauer syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247582,Citrin deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
2328,Kapur-Toriello syndrome,Cases/families,Case(s),,6.0,Worldwide
2328,Kapur-Toriello syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2408,Lowe-Kohn-Cohen syndrome,Cases/families,Family(ies),,1.0,Worldwide
2408,Lowe-Kohn-Cohen syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2409,Lowry-MacLean syndrome,Cases/families,Case(s),,3.0,Worldwide
2409,Lowry-MacLean syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2405,Thickened earlobes-conductive deafness syndrome,Cases/families,Family(ies),,2.0,Worldwide
2405,Thickened earlobes-conductive deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2407,Laryngo-onycho-cutaneous syndrome,Cases/families,Case(s),,50.0,Worldwide
2407,Laryngo-onycho-cutaneous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2412,Dislocation of the hip-dysmorphism syndrome,Cases/families,Case(s),,4.0,Worldwide
2412,Dislocation of the hip-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2575,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,Cases/families,Case(s),,2.0,Worldwide
2575,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2410,Hypergonadotropic hypogonadism-cataract syndrome,Cases/families,Case(s),,3.0,Worldwide
2410,Hypergonadotropic hypogonadism-cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2399,Nasopalpebral lipoma-coloboma syndrome,Cases/families,Case(s),,19.0,Worldwide
2399,Nasopalpebral lipoma-coloboma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2400,Peripheral motor neuropathy-dysautonomia syndrome,Cases/families,Case(s),,2.0,Worldwide
2400,Peripheral motor neuropathy-dysautonomia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2396,Encephalocraniocutaneous lipomatosis,Cases/families,Case(s),,77.0,Worldwide
2396,Encephalocraniocutaneous lipomatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2388,Choreoacanthocytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
248111,Juvenile Huntington disease,Annual incidence,Value and class,<1 / 1 000 000,0.04,Europe
248111,Juvenile Huntington disease,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Europe
2387,Leukonychia totalis,Cases/families,Case(s),,44.0,Worldwide
2387,Leukonychia totalis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2386,Leukoencephalopathy-palmoplantar keratoderma syndrome,Cases/families,Case(s),,4.0,Worldwide
2386,Leukoencephalopathy-palmoplantar keratoderma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
248095,Primary hypertrophic osteoarthropathy,Point prevalence,Class only,Unknown,0.0,Worldwide
2379,Early-onset parkinsonism-intellectual disability syndrome,Cases/families,Family(ies),,2.0,Worldwide
2379,Early-onset parkinsonism-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2391,Congenitally short costocoracoid ligament,Cases/families,Family(ies),,1.0,Worldwide
2391,Congenitally short costocoracoid ligament,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2390,Lichtenstein syndrome,Cases/families,Case(s),,2.0,Worldwide
2390,Lichtenstein syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247834,Occult macular dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
2371,Lethal Larsen-like syndrome,Cases/families,Case(s),,8.0,Worldwide
2371,Lethal Larsen-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2369,Limb body wall complex,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Australia
2369,Limb body wall complex,Point prevalence,Class only,Unknown,0.0,Europe
2369,Limb body wall complex,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Japan
2369,Limb body wall complex,Prevalence at birth,Value and class,1-9 / 100 000,3.4,Europe
247820,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,Cases/families,Case(s),,22.0,Worldwide
247820,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247827,Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome,Cases/families,Case(s),,4.0,Worldwide
247827,Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2378,Laurin-Sandrow syndrome,Cases/families,Case(s),,14.0,Worldwide
2378,Laurin-Sandrow syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247868,NLRP12-associated hereditary periodic fever syndrome,Cases/families,Case(s),,19.0,Worldwide
247868,NLRP12-associated hereditary periodic fever syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2375,Laryngeal abductor paralysis-intellectual disability syndrome,Cases/families,Case(s),,20.0,Worldwide
2375,Laryngeal abductor paralysis-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2456,Familial supernumerary nipples,Cases/families,Case(s),,46.0,Worldwide
2456,Familial supernumerary nipples,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2457,Mandibuloacral dysplasia,Cases/families,Case(s),,40.0,Worldwide
2457,Mandibuloacral dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2451,Mucocutaneous venous malformations,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2451,Mucocutaneous venous malformations,Cases/families,Family(ies),,18.0,Worldwide
2439,Patterson-Stevenson-Fontaine syndrome,Cases/families,Case(s),,7.0,Worldwide
2439,Patterson-Stevenson-Fontaine syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,Cases/families,Case(s),,12.0,Worldwide
244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
244283,Biliary atresia with splenic malformation syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2440,Isolated split hand-split foot malformation,Prevalence at birth,Value and class,1-9 / 100 000,5.4,Europe
2440,Isolated split hand-split foot malformation,Prevalence at birth,Value and class,1-5 / 10 000,16.4,China
2440,Isolated split hand-split foot malformation,Prevalence at birth,Value and class,1-9 / 100 000,5.1,Canada
2440,Isolated split hand-split foot malformation,Prevalence at birth,Value and class,1-9 / 100 000,6.0,Hungary
2440,Isolated split hand-split foot malformation,Prevalence at birth,Value and class,1-9 / 100 000,6.0,United States
2440,Isolated split hand-split foot malformation,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
244310,RFT1-CDG,Cases/families,Case(s),,8.0,Worldwide
244310,RFT1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
244242,HELLP syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
296,Ollier disease,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
2437,Czeizel-Losonci syndrome,Cases/families,Case(s),,3.0,Worldwide
2437,Czeizel-Losonci syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
244275,De novo thrombotic microangiopathy after kidney transplantation,Point prevalence,Class only,Unknown,0.0,Worldwide
2438,Hand-foot-genital syndrome,Cases/families,Case(s),,33.0,Worldwide
2438,Hand-foot-genital syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
243343,Dimethylglycine dehydrogenase deficiency,Cases/families,Case(s),,1.0,Worldwide
243343,Dimethylglycine dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2435,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,Cases/families,Case(s),,14.0,Worldwide
2435,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2429,Macrocephaly-spastic paraplegia-dysmorphism syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2432,Macrosomia-microphthalmia-cleft palate syndrome,Cases/families,Case(s),,5.0,Worldwide
2432,Macrosomia-microphthalmia-cleft palate syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2489,Upper limb defect-eye and ear abnormalities syndrome,Cases/families,Case(s),,2.0,Worldwide
2489,Upper limb defect-eye and ear abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247353,Generalized pustular psoriasis,Point prevalence,Value and class,1-9 / 1 000 000,0.18,France
247353,Generalized pustular psoriasis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
247262,Hyperphosphatasia-intellectual disability syndrome,Cases/families,Case(s),,24.0,Worldwide
247262,Hyperphosphatasia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2487,Lower limb malformation-hypospadias syndrome,Cases/families,Case(s),,2.0,Worldwide
2487,Lower limb malformation-hypospadias syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247257,Inhalational anthrax,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
247245,Superficial siderosis,Cases/families,Case(s),,300.0,Worldwide
247245,Superficial siderosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2485,Melorheostosis,Point prevalence,Value and class,<1 / 1 000 000,0.09,Europe
247234,Sporadic adult-onset ataxia of unknown etiology,Point prevalence,Value and class,1-9 / 100 000,7.6,Europe
247234,Sporadic adult-onset ataxia of unknown etiology,Point prevalence,Value and class,1-9 / 100 000,6.9,Italy
247234,Sporadic adult-onset ataxia of unknown etiology,Point prevalence,Value and class,1-9 / 100 000,8.4,United Kingdom
2483,Melkersson-Rosenthal syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
247203,Collecting duct carcinoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
2484,Melnick-Needles syndrome,Cases/families,Case(s),,70.0,Worldwide
2484,Melnick-Needles syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247198,Progressive cerebello-cerebral atrophy,Cases/families,Case(s),,7.0,Worldwide
247198,Progressive cerebello-cerebral atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2481,Neurocutaneous melanocytosis,Point prevalence,Value and class,1-9 / 100 000,1.25,Europe
2482,Melhem-Fahl syndrome,Cases/families,Case(s),,2.0,Worldwide
2482,Melhem-Fahl syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247165,Infantile mercury poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
2479,Megalocornea-intellectual disability syndrome,Cases/families,Case(s),,40.0,Worldwide
2479,Megalocornea-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2475,White forelock with malformations,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2475,White forelock with malformations,Cases/families,Case(s),,2.0,Worldwide
2476,Dysraphism-cleft lip/palate-limb reduction defects syndrome,Cases/families,Case(s),,3.0,Worldwide
2476,Dysraphism-cleft lip/palate-limb reduction defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2473,McKusick-Kaufman syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2473,McKusick-Kaufman syndrome,Cases/families,Case(s),,90.0,Worldwide
2473,McKusick-Kaufman syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Specific population
2471,McDonough syndrome,Cases/families,Family(ies),,2.0,Worldwide
2471,McDonough syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2470,Matthew-Wood syndrome,Cases/families,Case(s),,43.0,Worldwide
2470,Matthew-Wood syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
561,Marshall-Smith syndrome,Cases/families,Case(s),,74.0,Worldwide
561,Marshall-Smith syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2464,"Marfanoid syndrome, De Silva type",Cases/families,Case(s),,6.0,Worldwide
2464,"Marfanoid syndrome, De Silva type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
559,Marinesco-Sjögren syndrome,Cases/families,Case(s),,200.0,Worldwide
559,Marinesco-Sjögren syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2463,Marfanoid habitus-autosomal recessive intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
2463,Marfanoid habitus-autosomal recessive intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2462,Shprintzen-Goldberg syndrome,Cases/families,Case(s),,60.0,Worldwide
2462,Shprintzen-Goldberg syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2461,Marden-Walker syndrome,Cases/families,Case(s),,50.0,Worldwide
2461,Marden-Walker syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2461,Marden-Walker syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Belgium
251630,Anaplastic oligodendroglioma,Annual incidence,Value and class,<1 / 1 000 000,0.09,Europe
251630,Anaplastic oligodendroglioma,Annual incidence,Value and class,1-9 / 1 000 000,0.11,United States
2172,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,Cases/families,Case(s),,2.0,Worldwide
2172,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251636,Ependymoma,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Europe
251636,Ependymoma,Point prevalence,Class only,Unknown,0.0,Europe
251639,Subependymoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
251643,Myxopapillary ependymoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
251643,Myxopapillary ependymoma,Point prevalence,Class only,Unknown,0.0,Europe
2176,Infantile systemic hyalinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251646,Anaplastic ependymoma,Annual incidence,Value and class,<1 / 1 000 000,0.04,United States
251651,Oligoastrocytic tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Europe
251651,Oligoastrocytic tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.19,United States
2181,Hydrocephaly-tall stature-joint laxity syndrome,Cases/families,Case(s),,2.0,Worldwide
2181,Hydrocephaly-tall stature-joint laxity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2180,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,Cases/families,Case(s),,8.0,Worldwide
2180,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2186,Hydrocephalus-blue sclerae-nephropathy syndrome,Cases/families,Family(ies),,1.0,Worldwide
2186,Hydrocephalus-blue sclerae-nephropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251671,Angiocentric glioma,Cases/families,Case(s),,52.0,Worldwide
251671,Angiocentric glioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2189,Hydrolethalus,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Finland
2189,Hydrolethalus,Point prevalence,Class only,<1 / 1 000 000,0.0,Finland
2189,Hydrolethalus,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
251674,Chordoid glioma,Cases/families,Case(s),,80.0,Worldwide
251674,Chordoid glioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251679,Astroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
312,Autosomal dominant epidermolytic ichthyosis,Point prevalence,Value and class,1-9 / 1 000 000,0.4317,Japan
312,Autosomal dominant epidermolytic ichthyosis,Point prevalence,Class only,Unknown,0.0,Worldwide
312,Autosomal dominant epidermolytic ichthyosis,Point prevalence,Value and class,1-9 / 1 000 000,0.29,Denmark
312,Autosomal dominant epidermolytic ichthyosis,Point prevalence,Value and class,1-9 / 1 000 000,0.65,United States
312,Autosomal dominant epidermolytic ichthyosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
2196,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,Cases/families,Case(s),,72.0,Worldwide
2196,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
251852,Embryonal tumor of neuroepithelial tissue,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Europe
251576,Gliosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.03,Europe
2150,Hirschsprung disease-type D brachydactyly syndrome,Cases/families,Case(s),,4.0,Worldwide
2150,Hirschsprung disease-type D brachydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251582,Gliomatosis cerebri,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
251579,Giant cell glioblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
2152,Mowat-Wilson syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2152,Mowat-Wilson syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Europe
2153,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
2153,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251589,Anaplastic astrocytoma,Annual incidence,Value and class,1-9 / 1 000 000,0.4,United States
251598,Protoplasmic astrocytoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
2155,Hirschsprung disease-deafness-polydactyly syndrome,Cases/families,Case(s),,2.0,Worldwide
2155,Hirschsprung disease-deafness-polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251595,Diffuse astrocytoma,Annual incidence,Value and class,1-9 / 1 000 000,0.48,United States
2158,Histidinuria-renal tubular defect syndrome,Cases/families,Case(s),,5.0,Worldwide
2158,Histidinuria-renal tubular defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251612,Pilocytic astrocytoma,Annual incidence,Value and class,1-9 / 1 000 000,0.36,United States
2163,Holoprosencephaly-craniosynostosis syndrome,Cases/families,Case(s),,11.0,Worldwide
2163,Holoprosencephaly-craniosynostosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251607,Pleomorphic xanthoastrocytoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
2165,Holoprosencephaly-caudal dysgenesis syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.9,Spain
2165,Holoprosencephaly-caudal dysgenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Spain
2166,Holoprosencephaly-postaxial polydactyly syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
251627,Oligodendroglioma,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Europe
2167,Holzgreve syndrome,Cases/families,Case(s),,3.0,Worldwide
2167,Holzgreve syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251623,Pituicytoma,Cases/families,Case(s),,171.0,Worldwide
251623,Pituicytoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2169,Methylcobalamin deficiency type cblE,Cases/families,Case(s),,27.0,Worldwide
2169,Methylcobalamin deficiency type cblE,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2222,Hypertrichosis lanuginosa congenita,Cases/families,Case(s),,100.0,Worldwide
2222,Hypertrichosis lanuginosa congenita,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2220,Hypertrichosis cubiti,Cases/families,Case(s),,28.0,Worldwide
2220,Hypertrichosis cubiti,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1051,Ramos-Arroyo syndrome,Cases/families,Case(s),,6.0,Worldwide
1051,Ramos-Arroyo syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2228,Hypodontia-dysplasia of nails syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2224,Hypertryptophanemia,Cases/families,Case(s),,12.0,Worldwide
2224,Hypertryptophanemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251937,Gangliocytoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Worldwide
2232,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,Cases/families,Case(s),,7.0,Worldwide
2232,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2230,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,Cases/families,Case(s),,6.0,Worldwide
2230,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Cases/families,Family(ies),,20.0,Worldwide
2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2238,Familial isolated hypoparathyroidism,Cases/families,Family(ies),,10.0,Worldwide
2238,Familial isolated hypoparathyroidism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2237,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2237,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,Cases/families,Case(s),,180.0,Worldwide
2235,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,Cases/families,Case(s),,2.0,Worldwide
2235,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2234,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2234,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2199,Epidermolytic palmoplantar keratoderma,Point prevalence,Value and class,1-9 / 100 000,4.4,Ireland
251863,Desmoplastic/nodular medulloblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
2200,Focal palmoplantar and gingival keratoderma,Cases/families,Case(s),,17.0,Worldwide
2200,Focal palmoplantar and gingival keratoderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,Cases/families,Family(ies),,10.0,Worldwide
2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
495,Transgrediens et progrediens palmoplantar keratoderma,Cases/families,Case(s),,21.0,Worldwide
495,Transgrediens et progrediens palmoplantar keratoderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2206,Ankylosing vertebral hyperostosis with tylosis,Cases/families,Case(s),,8.0,Worldwide
2206,Ankylosing vertebral hyperostosis with tylosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2201,Palmoplantar keratoderma-spastic paralysis syndrome,Cases/families,Family(ies),,1.0,Worldwide
2201,Palmoplantar keratoderma-spastic paralysis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251877,Ganglioneuroblastoma,Cases/families,Case(s),,425.0,Worldwide
251877,Ganglioneuroblastoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2202,Palmoplantar keratoderma-deafness syndrome,Cases/families,Family(ies),,10.0,Worldwide
2202,Palmoplantar keratoderma-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251870,Central nervous system embryonal tumor,Annual incidence,Value and class,<1 / 1 000 000,0.07,Europe
251899,Choroid plexus carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
251899,Choroid plexus carcinoma,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
251899,Choroid plexus carcinoma,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.35,Europe
2213,Hypertelorism-microtia-facial clefting syndrome,Cases/families,Case(s),,9.0,Worldwide
2213,Hypertelorism-microtia-facial clefting syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251896,Choroid plexus tumor,Annual incidence,Value and class,<1 / 1 000 000,0.05,United States
2211,Hypertelorism-hypospadias-polysyndactyly syndrome,Cases/families,Family(ies),,3.0,Worldwide
2211,Hypertelorism-hypospadias-polysyndactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2218,Cervical hypertrichosis-peripheral neuropathy syndrome,Cases/families,Case(s),,4.0,Worldwide
2218,Cervical hypertrichosis-peripheral neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251909,Pineoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
2215,Multiple pterygium-malignant hyperthermia syndrome,Cases/families,Case(s),,4.0,Worldwide
2215,Multiple pterygium-malignant hyperthermia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2216,Maternal hyperthermia-induced birth defects,Point prevalence,Class only,Unknown,0.0,Worldwide
251019,2q32q33 deletion syndrome,Cases/families,Case(s),,25.0,Worldwide
251019,2q32q33 deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2266,"Hypotrichosis-intellectual disability, Lopes type",Cases/families,Case(s),,2.0,Worldwide
2266,"Hypotrichosis-intellectual disability, Lopes type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251028,SATB2-associated syndrome due to a chromosomal rearrangement,Cases/families,Case(s),,20.0,Worldwide
251028,SATB2-associated syndrome due to a chromosomal rearrangement,Point prevalence,Class only,Unknown,0.0,Worldwide
2269,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
2269,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251038,3q29 microduplication syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
250999,1q41q42 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2261,"Hypospadias-intellectual disability, Goldblatt type syndrome",Cases/families,Case(s),,3.0,Worldwide
2261,"Hypospadias-intellectual disability, Goldblatt type syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251004,Paternal uniparental disomy of chromosome 1 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
251009,Maternal uniparental disomy of chromosome 1 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
672,Pallister-Hall syndrome,Cases/families,Case(s),,100.0,Worldwide
672,Pallister-Hall syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251014,2q31.1 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
455,Superficial epidermolytic ichthyosis,Cases/families,Case(s),,20.0,Worldwide
455,Superficial epidermolytic ichthyosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251061,7q31 microdeletion syndrome,Cases/families,Case(s),,20.0,Worldwide
251061,7q31 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251066,8p11.2 deletion syndrome,Cases/families,Case(s),,3.0,Worldwide
251066,8p11.2 deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2272,Ichthyosis-oral and digital anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2272,Ichthyosis-oral and digital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251071,8p23.1 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2274,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,Cases/families,Case(s),,2.0,Worldwide
2274,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251076,8p23.1 duplication syndrome,Point prevalence,Value and class,1-9 / 100 000,1.72,Worldwide
2273,Ichthyosis follicularis-alopecia-photophobia syndrome,Cases/families,Case(s),,40.0,Worldwide
2273,Ichthyosis follicularis-alopecia-photophobia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251043,Ring chromosome 5 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
165,Neutral lipid storage disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
165,Neutral lipid storage disease,Cases/families,Case(s),,50.0,Worldwide
139,CHILD syndrome,Cases/families,Case(s),,60.0,Worldwide
139,CHILD syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251046,6p22 microdeletion syndrome,Cases/families,Case(s),,19.0,Worldwide
251046,6p22 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457,Harlequin ichthyosis,Point prevalence,Class only,Unknown,0.0,Worldwide
457,Harlequin ichthyosis,Cases/families,Case(s),,200.0,Worldwide
2271,Congenital ichthyosis-microcephalus-tetraplegia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2271,Congenital ichthyosis-microcephalus-tetraplegia syndrome,Cases/families,Case(s),,2.0,Worldwide
251056,6q25.2q25.3 microdeletion syndrome,Cases/families,Case(s),,4.0,Worldwide
251056,6q25.2q25.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2246,Cerebellar hypoplasia-tapetoretinal degeneration syndrome,Cases/families,Case(s),,3.0,Worldwide
2246,Cerebellar hypoplasia-tapetoretinal degeneration syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2249,Ulna hypoplasia-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
2249,Ulna hypoplasia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,Cases/families,Family(ies),,2.0,Worldwide
2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,Cases/families,Case(s),,230.0,Worldwide
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
250984,Autosomal recessive Stickler syndrome,Cases/families,Case(s),,15.0,Worldwide
250984,Autosomal recessive Stickler syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2256,Fibulo-ulnar hypoplasia-renal anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2256,Fibulo-ulnar hypoplasia-renal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2257,Primary pulmonary hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
250977,AICA-ribosiduria,Cases/families,Case(s),,4.0,Worldwide
250977,AICA-ribosiduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
250994,1q21.1 microduplication syndrome,Cases/families,Case(s),,46.0,Worldwide
250994,1q21.1 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
250989,1q21.1 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2250,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,Cases/families,Case(s),,2.0,Worldwide
2250,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
250923,Isolated aniridia,Annual incidence,Value and class,1-9 / 100 000,1.31,Europe
250923,Isolated aniridia,Point prevalence,Value and class,1-9 / 100 000,1.38,Norway
250923,Isolated aniridia,Point prevalence,Value and class,1-9 / 100 000,1.38,Sweden
250923,Isolated aniridia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2251,Thumb deformity-alopecia-pigmentation anomaly syndrome,Cases/families,Family(ies),,2.0,Worldwide
2251,Thumb deformity-alopecia-pigmentation anomaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2252,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,Cases/families,Case(s),,8.0,Worldwide
2252,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
250972,Polymicrogyria with optic nerve hypoplasia,Cases/families,Case(s),,4.0,Worldwide
250972,Polymicrogyria with optic nerve hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,Cases/families,Case(s),,10.0,Worldwide
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,Prevalence at birth,Value and class,1-5 / 10 000,10.6,United States
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,Point prevalence,Class only,Unknown,0.0,Europe
2306,Isotretinoin-like syndrome,Cases/families,Case(s),,6.0,Worldwide
2306,Isotretinoin-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251383,CK syndrome,Cases/families,Case(s),,24.0,Worldwide
251383,CK syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2305,Isotretinoin syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
251370,Sickle cell S-D Punjab disease,Point prevalence,Class only,Unknown,0.0,Worldwide
251375,Sickle cell S-E disease,Point prevalence,Class only,Unknown,0.0,Worldwide
251359,Sickle cell-beta-thalassemia disease,Point prevalence,Class only,Unknown,0.0,Worldwide
251365,Sickle cell S-C disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2295,Familial articular hypermobility syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2319,Juberg-Hayward syndrome,Cases/families,Case(s),,13.0,Worldwide
2319,Juberg-Hayward syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251523,Hyperzincemia and hypercalprotectinemia,Cases/families,Case(s),,18.0,Worldwide
251523,Hyperzincemia and hypercalprotectinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2316,Johnson neuroectodermal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2315,Johanson-Blizzard syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
2315,Johanson-Blizzard syndrome,Point prevalence,Class only,Unknown,0.0,Europe
251510,"46,XY partial gonadal dysgenesis",Point prevalence,Class only,Unknown,0.0,Worldwide
251515,Distal arthrogryposis type 10,Cases/families,Case(s),,53.0,Worldwide
251515,Distal arthrogryposis type 10,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2310,Absence deformity of leg-cataract syndrome,Cases/families,Case(s),,2.0,Worldwide
2310,Absence deformity of leg-cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2309,Pachyonychia congenita,Cases/families,Case(s),,1000.0,Worldwide
2309,Pachyonychia congenita,Point prevalence,Value and class,<1 / 1 000 000,0.09,Worldwide
251393,Localized junctional epidermolysis bullosa,Cases/families,Case(s),,20.0,Worldwide
251393,Localized junctional epidermolysis bullosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2307,IVIC syndrome,Cases/families,Family(ies),,4.0,Worldwide
2307,IVIC syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251295,Pigmented paravenous retinochoroidal atrophy,Cases/families,Case(s),,100.0,Worldwide
251295,Pigmented paravenous retinochoroidal atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251290,Parietal foramina with clavicular hypoplasia,Cases/families,Case(s),,8.0,Worldwide
251290,Parietal foramina with clavicular hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2282,Dysmorphism-short stature-deafness-difference of sex development syndrome,Cases/families,Case(s),,2.0,Worldwide
2282,Dysmorphism-short stature-deafness-difference of sex development syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251287,Benign concentric annular macular dystrophy,Cases/families,Case(s),,27.0,Worldwide
251287,Benign concentric annular macular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251282,Autosomal dominant spastic ataxia type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251282,Autosomal dominant spastic ataxia type 1,Cases/families,Case(s),,53.0,Worldwide
251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Cases/families,Case(s),,9.0,Worldwide
251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251274,Familial hyperaldosteronism type III,Cases/families,Family(ies),,7.0,Worldwide
251274,Familial hyperaldosteronism type III,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2278,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,Cases/families,Case(s),,4.0,Worldwide
2278,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251262,Familial osteochondritis dissecans,Point prevalence,Class only,Unknown,0.0,Worldwide
2291,Congenital velopharyngeal incompetence,Cases/families,Case(s),,37.0,Worldwide
2291,Congenital velopharyngeal incompetence,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
251347,Ataxia-telangiectasia-like disorder,Point prevalence,Class only,Unknown,0.0,Worldwide
2289,Neuronal intranuclear inclusion disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2290,Microvillus inclusion disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2290,Microvillus inclusion disease,Cases/families,Case(s),,137.0,Worldwide
2290,Microvillus inclusion disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2287,Fused mandibular incisors,Point prevalence,Class only,Unknown,0.0,Worldwide
2285,Primary basilar invagination,Point prevalence,Class only,Unknown,0.0,Worldwide
251307,Idiopathic recurrent pericarditis,Point prevalence,Class only,Unknown,0.0,Worldwide
251304,Infantile onset panniculitis with uveitis and systemic granulomatosis,Cases/families,Case(s),,4.0,Worldwide
251304,Infantile onset panniculitis with uveitis and systemic granulomatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2674,Cyprus facial-neuromusculoskeletal syndrome,Cases/families,Family(ies),,1.0,Worldwide
2674,Cyprus facial-neuromusculoskeletal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2673,Neurofaciodigitorenal syndrome,Cases/families,Case(s),,3.0,Worldwide
2673,Neurofaciodigitorenal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2672,Neuhauser-Eichner-Opitz syndrome,Cases/families,Case(s),,5.0,Worldwide
2672,Neuhauser-Eichner-Opitz syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2678,Familial isolated café-au-lait macules,Point prevalence,Class only,Unknown,0.0,Worldwide
254851,Mitochondrial DNA-related dystonia,Point prevalence,Class only,Unknown,0.0,Worldwide
2668,Nephropathy-deafness-hyperparathyroidism syndrome,Cases/families,Case(s),,5.0,Worldwide
2668,Nephropathy-deafness-hyperparathyroidism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2663,Nathalie syndrome,Cases/families,Family(ies),,1.0,Worldwide
2663,Nathalie syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2662,Keipert syndrome,Cases/families,Case(s),,12.0,Worldwide
2662,Keipert syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2671,Neu-Laxova syndrome,Cases/families,Case(s),,91.0,Worldwide
2671,Neu-Laxova syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1475,Renal coloboma syndrome,Cases/families,Case(s),,180.0,Worldwide
1475,Renal coloboma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2670,Pierson syndrome,Cases/families,Case(s),,98.0,Worldwide
2670,Pierson syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2669,Nephrosis-deafness-urinary tract-digital malformations syndrome,Cases/families,Case(s),,5.0,Worldwide
2669,Nephrosis-deafness-urinary tract-digital malformations syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254930,Combined oxidative phosphorylation defect type 7,Cases/families,Case(s),,7.0,Worldwide
254930,Combined oxidative phosphorylation defect type 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254925,Combined oxidative phosphorylation defect type 4,Cases/families,Case(s),,2.0,Worldwide
254925,Combined oxidative phosphorylation defect type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,Cases/families,Case(s),,100.0,Worldwide
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254920,Combined oxidative phosphorylation defect type 2,Cases/families,Case(s),,1.0,Worldwide
254920,Combined oxidative phosphorylation defect type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2695,Bifid nose,Point prevalence,Class only,Unknown,0.0,Worldwide
255182,Pyruvate dehydrogenase E3-binding protein deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
2701,Noonan syndrome-like disorder with loose anagen hair,Cases/families,Case(s),,70.0,Worldwide
2701,Noonan syndrome-like disorder with loose anagen hair,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
255138,Pyruvate dehydrogenase E1-beta deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
255132,Adult-onset autosomal recessive sideroblastic anemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
255132,Adult-onset autosomal recessive sideroblastic anemia,Cases/families,Case(s),,2.0,Worldwide
2698,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2699,Median nodule of the upper lip,Cases/families,Family(ies),,4.0,Worldwide
2699,Median nodule of the upper lip,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254875,"Mitochondrial DNA depletion syndrome, myopathic form",Cases/families,Case(s),,45.0,Worldwide
254875,"Mitochondrial DNA depletion syndrome, myopathic form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2690,Neutropenia-monocytopenia-deafness syndrome,Cases/families,Case(s),,3.0,Worldwide
2690,Neutropenia-monocytopenia-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,Cases/families,Case(s),,2.0,Worldwide
254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2712,Oculofaciocardiodental syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2714,Oculo-palato-cerebral syndrome,Cases/families,Case(s),,5.0,Worldwide
2714,Oculo-palato-cerebral syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2713,Oculoosteocutaneous syndrome,Cases/families,Case(s),,3.0,Worldwide
2713,Oculoosteocutaneous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2715,Severe oculo-renal-cerebellar syndrome,Cases/families,Case(s),,5.0,Worldwide
2715,Severe oculo-renal-cerebellar syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2718,Oculotrichodysplasia,Cases/families,Case(s),,2.0,Worldwide
2718,Oculotrichodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2717,Oculotrichoanal syndrome,Cases/families,Case(s),,20.0,Worldwide
2717,Oculotrichoanal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2704,Urofacial syndrome,Cases/families,Case(s),,100.0,Worldwide
2704,Urofacial syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2703,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,Cases/families,Case(s),,5.0,Worldwide
2703,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
255210,Mitochondrial DNA-associated Leigh syndrome,Prevalence at birth,Class only,Unknown,0.0,Worldwide
255210,Mitochondrial DNA-associated Leigh syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
255229,Navajo neurohepatopathy,Cases/families,Case(s),,49.0,Worldwide
255229,Navajo neurohepatopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2707,"Oculocerebrofacial syndrome, Kaufman type",Cases/families,Case(s),,19.0,Worldwide
2707,"Oculocerebrofacial syndrome, Kaufman type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",Cases/families,Case(s),,5.0,Worldwide
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2710,Oculodentodigital dysplasia,Cases/families,Case(s),,243.0,Worldwide
2710,Oculodentodigital dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2709,"Oculodental syndrome, Rutherfurd type",Cases/families,Family(ies),,1.0,Worldwide
2709,"Oculodental syndrome, Rutherfurd type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type",Cases/families,Case(s),,30.0,Worldwide
2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2730,Postaxial tetramelic oligodactyly,Cases/families,Case(s),,4.0,Worldwide
2730,Postaxial tetramelic oligodactyly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2732,Olivopontocerebellar atrophy-deafness syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2733,Omodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2733,Omodysplasia,Cases/families,Case(s),,30.0,Worldwide
2719,"Oculocerebral hypopigmentation syndrome, Cross type",Cases/families,Case(s),,14.0,Worldwide
2719,"Oculocerebral hypopigmentation syndrome, Cross type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2720,"Oculocerebral hypopigmentation syndrome, Preus type",Cases/families,Case(s),,2.0,Worldwide
2720,"Oculocerebral hypopigmentation syndrome, Preus type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2721,Odonto-onycho-dermal dysplasia,Cases/families,Case(s),,30.0,Worldwide
2721,Odonto-onycho-dermal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2722,Odonto-onycho dysplasia-alopecia syndrome,Cases/families,Case(s),,2.0,Worldwide
2722,Odonto-onycho dysplasia-alopecia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2723,Odontotrichomelic syndrome,Cases/families,Case(s),,4.0,Worldwide
2723,Odontotrichomelic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2724,Odontomatosis-aortae esophagus stenosis syndrome,Cases/families,Case(s),,3.0,Worldwide
2724,Odontomatosis-aortae esophagus stenosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2755,Orofaciodigital syndrome type 8,Cases/families,Case(s),,20.0,Worldwide
2755,Orofaciodigital syndrome type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2754,Orofaciodigital syndrome type 6,Cases/families,Family(ies),,2.0,Worldwide
2754,Orofaciodigital syndrome type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
252164,Benign schwannoma,Point prevalence,Value and class,1-9 / 100 000,6.0,Europe
2753,Orofaciodigital syndrome type 4,Cases/families,Case(s),,15.0,Worldwide
2753,Orofaciodigital syndrome type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2751,Orofaciodigital syndrome type 2,Cases/families,Case(s),,20.0,Worldwide
2751,Orofaciodigital syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2750,Orofaciodigital syndrome type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,France
2750,Orofaciodigital syndrome type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Europe
2750,Orofaciodigital syndrome type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
252057,Tumor of cranial and spinal nerves,Annual incidence,Value and class,1-9 / 100 000,1.89,United States
252050,Primary melanoma of the central nervous system,Annual incidence,Value and class,<1 / 1 000 000,0.007,Worldwide
2743,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,Cases/families,Case(s),,6.0,Worldwide
2743,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
252054,Hemangioblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Worldwide
2741,Ophthalmomandibulomelic dysplasia,Cases/families,Case(s),,3.0,Worldwide
2741,Ophthalmomandibulomelic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
252028,Primary melanocytic tumor of central nervous system,Annual incidence,Value and class,<1 / 1 000 000,0.01,United States
661,Congenital central hypoventilation syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,France
661,Congenital central hypoventilation syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2736,Lethal omphalocele-cleft palate syndrome,Cases/families,Case(s),,5.0,Worldwide
2736,Lethal omphalocele-cleft palate syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254367,Rare lichen planus,Point prevalence,Class only,Unknown,0.0,Worldwide
2776,Autosomal recessive distal osteolysis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2777,Osteomesopyknosis,Cases/families,Case(s),,35.0,Worldwide
2777,Osteomesopyknosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254361,Plectin-related limb-girdle muscular dystrophy R17,Cases/families,Case(s),,6.0,Worldwide
254361,Plectin-related limb-girdle muscular dystrophy R17,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2774,Multicentric carpo-tarsal osteolysis with or without nephropathy,Point prevalence,Class only,Unknown,0.0,Worldwide
254351,Distal 7q11.23 microdeletion syndrome,Cases/families,Case(s),,41.0,Worldwide
254351,Distal 7q11.23 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2769,"Familial osteodysplasia, Anderson type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2769,"Familial osteodysplasia, Anderson type",Cases/families,Case(s),,4.0,Worldwide
254346,19p13.12 microdeletion syndrome,Cases/families,Case(s),,6.0,Worldwide
254346,19p13.12 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2770,Nasu-Hakola disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2770,Nasu-Hakola disease,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Finland
254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Cases/families,Case(s),,6.0,Worldwide
254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2767,Carpotarsal osteochondromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,Cases/families,Case(s),,1.0,Worldwide
254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2768,Blount disease,Point prevalence,Class only,Not yet documented,0.0,Worldwide
2762,Progressive osseous heteroplasia,Cases/families,Case(s),,78.0,Worldwide
2762,Progressive osseous heteroplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
252212,Malignant triton tumor,Cases/families,Case(s),,170.0,Worldwide
252212,Malignant triton tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
2763,Osteocraniostenosis,Cases/families,Case(s),,30.0,Worldwide
2763,Osteocraniostenosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
252206,Melanoma and neural system tumor syndrome,Cases/families,Case(s),,49.0,Worldwide
252206,Melanoma and neural system tumor syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
252202,Constitutional mismatch repair deficiency syndrome,Cases/families,Case(s),,200.0,Worldwide
252202,Constitutional mismatch repair deficiency syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2759,Imperforate oropharynx-costovertebral anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2759,Imperforate oropharynx-costovertebral anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2760,OSLAM syndrome,Cases/families,Case(s),,3.0,Worldwide
2760,OSLAM syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
252175,Vestibular schwannoma,Annual incidence,Value and class,1-9 / 100 000,2.0,Denmark
252175,Vestibular schwannoma,Annual incidence,Value and class,1-9 / 100 000,1.2,United States
252175,Vestibular schwannoma,Annual incidence,Value and class,1-9 / 1 000 000,0.8,Specific population
252175,Vestibular schwannoma,Annual incidence,Class only,1-9 / 100 000,0.0,Europe
254516,Temple syndrome,Cases/families,Case(s),,53.0,Worldwide
254516,Temple syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2793,Otoonychoperoneal syndrome,Cases/families,Case(s),,6.0,Worldwide
2793,Otoonychoperoneal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2792,Otofaciocervical syndrome,Cases/families,Case(s),,18.0,Worldwide
2792,Otofaciocervical syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254519,Kagami-Ogata syndrome,Cases/families,Case(s),,84.0,Worldwide
254519,Kagami-Ogata syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254525,Temple syndrome due to paternal 14q32.2 microdeletion,Cases/families,Case(s),,9.0,Worldwide
254525,Temple syndrome due to paternal 14q32.2 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2798,Pachygyria-intellectual disability-epilepsy syndrome,Cases/families,Case(s),,5.0,Worldwide
2798,Pachygyria-intellectual disability-epilepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2796,Pachydermoperiostosis,Cases/families,Case(s),,204.0,Worldwide
2796,Pachydermoperiostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Cases/families,Case(s),,8.0,Worldwide
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254478,Lichen planus pemphigoides,Cases/families,Case(s),,100.0,Worldwide
254478,Lichen planus pemphigoides,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2789,Lateral meningocele syndrome,Cases/families,Case(s),,14.0,Worldwide
2789,Lateral meningocele syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2788,Osteoporosis-pseudoglioma syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.05,Europe
254492,Frontal fibrosing alopecia,Point prevalence,Class only,Unknown,0.0,Worldwide
2791,Otodental syndrome,Cases/families,Family(ies),,10.0,Worldwide
2791,Otodental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254504,Inhalational botulism,Cases/families,Case(s),,10.0,Worldwide
254504,Inhalational botulism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2790,"Endosteal hyperostosis, Worth type",Cases/families,Family(ies),,6.0,Worldwide
2790,"Endosteal hyperostosis, Worth type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254509,Iatrogenic botulism,Cases/families,Case(s),,180.0,Worldwide
254509,Iatrogenic botulism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254411,Annular atrophic lichen planus,Cases/families,Case(s),,10.0,Worldwide
254411,Annular atrophic lichen planus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254424,Annular lichen planus,Point prevalence,Class only,Unknown,0.0,Worldwide
2783,Autosomal dominant osteopetrosis type 1,Cases/families,Case(s),,33.0,Worldwide
2783,Autosomal dominant osteopetrosis type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254449,Atrophic lichen planus,Point prevalence,Class only,Unknown,0.0,Worldwide
2786,Osteoporosis-oculocutaneous hypopigmentation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2786,Osteoporosis-oculocutaneous hypopigmentation syndrome,Cases/families,Case(s),,1.0,Worldwide
254463,Lichen planus pigmentosus,Point prevalence,Class only,Unknown,0.0,Worldwide
2780,Osteopathia striata-cranial sclerosis syndrome,Cases/families,Case(s),,100.0,Worldwide
2780,Osteopathia striata-cranial sclerosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2779,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,Cases/families,Case(s),,3.0,Worldwide
2779,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254379,Linear lichen planus,Point prevalence,Class only,Unknown,0.0,Worldwide
254395,Actinic lichen planus,Point prevalence,Class only,Unknown,0.0,Worldwide
667,Autosomal recessive malignant osteopetrosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Europe
667,Autosomal recessive malignant osteopetrosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
2815,Spastic paraparesis-deafness syndrome,Cases/families,Case(s),,6.0,Worldwide
2815,Spastic paraparesis-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2818,Spastic paraplegia-glaucoma-intellectual disability syndrome,Cases/families,Family(ies),,2.0,Worldwide
2818,Spastic paraplegia-glaucoma-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2808,Laryngeal abductor paralysis,Cases/families,Case(s),,9.0,Worldwide
2808,Laryngeal abductor paralysis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2809,Familial recurrent peripheral facial palsy,Annual incidence,Value and class,1-9 / 100 000,5.6,Worldwide
2812,Parana hard skin syndrome,Cases/families,Case(s),,8.0,Worldwide
2812,Parana hard skin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2805,Partial pancreatic agenesis,Cases/families,Case(s),,50.0,Worldwide
2805,Partial pancreatic agenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254698,Epithelioid trophoblastic tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
254698,Epithelioid trophoblastic tumor,Annual incidence,Class only,Unknown,0.0,Europe
254698,Epithelioid trophoblastic tumor,Lifetime Prevalence,Class only,,0.0,Worldwide
254693,Partial hydatidiform mole,Point prevalence,Class only,Unknown,0.0,Worldwide
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,1.8,Europe
675,Annular pancreas,Prevalence at birth,Value and class,1-5 / 10 000,29.4,Austria
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Belgium
675,Annular pancreas,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Denmark
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,7.9,France
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,5.9,Germany
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Hungary
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Ireland
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,5.7,Italy
675,Annular pancreas,Prevalence at birth,Value and class,1-5 / 10 000,24.9,Malta
675,Annular pancreas,Prevalence at birth,Value and class,1-5 / 10 000,17.1,Netherlands
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Poland
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,3.1,Spain
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,United Kingdom
675,Annular pancreas,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Ukraine
675,Annular pancreas,Point prevalence,Value and class,1-9 / 100 000,4.5,Worldwide
2807,Papilloma of choroid plexus,Annual incidence,Value and class,<1 / 1 000 000,0.003,Worldwide
2807,Papilloma of choroid plexus,Point prevalence,Class only,Unknown,0.0,Worldwide
678,Papillon-Lefèvre syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Worldwide
254704,Genetic hyperferritinemia without iron overload,Point prevalence,Class only,Unknown,0.0,Worldwide
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Cases/families,Case(s),,7.0,Worldwide
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2802,X-linked sideroblastic anemia and spinocerebellar ataxia,Cases/families,Case(s),,13.0,Worldwide
2802,X-linked sideroblastic anemia and spinocerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,Cases/families,Case(s),,12.0,Worldwide
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
254688,Complete hydatidiform mole,Point prevalence,Class only,Unknown,0.0,Worldwide
2804,W syndrome,Cases/families,Case(s),,6.0,Worldwide
2804,W syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2491,Müllerian duct anomalies-limb anomalies syndrome,Cases/families,Case(s),,5.0,Worldwide
2491,Müllerian duct anomalies-limb anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2492,FATCO syndrome,Cases/families,Case(s),,22.0,Worldwide
2492,FATCO syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2499,Metachondromatosis,Cases/families,Case(s),,25.0,Worldwide
2499,Metachondromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2496,Mesomelia-synostoses syndrome,Cases/families,Case(s),,10.0,Worldwide
2496,Mesomelia-synostoses syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2497,"Upper limb mesomelic dysplasia, type Fryns",Cases/families,Case(s),,4.0,Worldwide
2497,"Upper limb mesomelic dysplasia, type Fryns",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2502,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,Cases/families,Case(s),,3.0,Worldwide
2502,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2500,Acrogeria,Cases/families,Case(s),,51.0,Worldwide
2500,Acrogeria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2501,"Metaphyseal chondrodysplasia, Spahr type",Cases/families,Case(s),,18.0,Worldwide
2501,"Metaphyseal chondrodysplasia, Spahr type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2504,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,Cases/families,Family(ies),,2.0,Worldwide
2504,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2505,Multiple benign circumferential skin creases on limbs,Cases/families,Case(s),,32.0,Worldwide
2505,Multiple benign circumferential skin creases on limbs,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2511,Microbrachycephaly-ptosis-cleft lip syndrome,Cases/families,Case(s),,2.0,Worldwide
2511,Microbrachycephaly-ptosis-cleft lip syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2510,Micro syndrome,Cases/families,Case(s),,203.0,Worldwide
2510,Micro syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2508,Corpus callosum agenesis-abnormal genitalia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2516,Microcephaly-cardiac defect-lung malsegmentation syndrome,Cases/families,Case(s),,3.0,Worldwide
2516,Microcephaly-cardiac defect-lung malsegmentation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2515,Microcephaly-cardiomyopathy syndrome,Cases/families,Case(s),,3.0,Worldwide
2515,Microcephaly-cardiomyopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2513,Microcephaly-albinism-digital anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2513,Microcephaly-albinism-digital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2521,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,Cases/families,Case(s),,3.0,Worldwide
2521,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2524,Pontocerebellar hypoplasia type 2,Cases/families,Family(ies),,81.0,Worldwide
2524,Pontocerebellar hypoplasia type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
2523,Microcephaly-brain defect-spasticity-hypernatremia syndrome,Cases/families,Case(s),,3.0,Worldwide
2523,Microcephaly-brain defect-spasticity-hypernatremia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2522,Microcephaly-cervical spine fusion anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2522,Microcephaly-cervical spine fusion anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2526,Microcephaly-lymphedema-chorioretinopathy syndrome,Cases/families,Family(ies),,50.0,Worldwide
2526,Microcephaly-lymphedema-chorioretinopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2528,"Microcephaly-microcornea syndrome, Seemanova type",Cases/families,Case(s),,2.0,Worldwide
2528,"Microcephaly-microcornea syndrome, Seemanova type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2533,Microcephaly-deafness-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
2533,Microcephaly-deafness-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2536,Microcornea-glaucoma-absent frontal sinuses syndrome,Cases/families,Case(s),,5.0,Worldwide
2536,Microcornea-glaucoma-absent frontal sinuses syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2549,Oculoauriculovertebral spectrum with radial defects,Cases/families,Case(s),,40.0,Worldwide
2549,Oculoauriculovertebral spectrum with radial defects,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2551,Microspherophakia-metaphyseal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2554,Ear-patella-short stature syndrome,Cases/families,Case(s),,67.0,Worldwide
2554,Ear-patella-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2556,Microphthalmia with linear skin defects syndrome,Cases/families,Case(s),,55.0,Worldwide
2556,Microphthalmia with linear skin defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2558,Mikati-Najjar-Sahli syndrome,Cases/families,Case(s),,5.0,Worldwide
2558,Mikati-Najjar-Sahli syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2557,Mietens syndrome,Cases/families,Case(s),,9.0,Worldwide
2557,Mietens syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2561,Pyramidal molars-abnormal upper lip syndrome,Cases/families,Case(s),,8.0,Worldwide
2561,Pyramidal molars-abnormal upper lip syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2560,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,Cases/families,Case(s),,7.0,Worldwide
2560,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2564,Tetramelic monodactyly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2563,MOMO syndrome,Cases/families,Case(s),,8.0,Worldwide
2563,MOMO syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2565,Mononen-Karnes-Senac syndrome,Cases/families,Family(ies),,1.0,Worldwide
2565,Mononen-Karnes-Senac syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
575,Muckle-Wells syndrome,Cases/families,Case(s),,200.0,Worldwide
575,Muckle-Wells syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2572,Spastic ataxia-corneal dystrophy syndrome,Cases/families,Family(ies),,1.0,Worldwide
2572,Spastic ataxia-corneal dystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2573,Moyamoya disease,Annual incidence,Value and class,1-9 / 1 000 000,0.74,Japan
2573,Moyamoya disease,Point prevalence,Value and class,1-9 / 100 000,6.2,Japan
2573,Moyamoya disease,Annual incidence,Value and class,1-9 / 1 000 000,0.43,China
2573,Moyamoya disease,Point prevalence,Value and class,1-9 / 100 000,3.92,China
2573,Moyamoya disease,Annual incidence,Value and class,<1 / 1 000 000,0.048,"Taiwan, Province of China"
2573,Moyamoya disease,Point prevalence,Value and class,1-9 / 1 000 000,0.44,"Taiwan, Province of China"
2573,Moyamoya disease,Annual incidence,Value and class,<1 / 1 000 000,0.086,United States
2573,Moyamoya disease,Point prevalence,Value and class,1-9 / 1 000 000,0.33,France
2573,Moyamoya disease,Annual incidence,Value and class,<1 / 1 000 000,0.035,Europe
2573,Moyamoya disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
2570,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Cases/families,Case(s),,4.0,Worldwide
2570,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2571,X-linked immunoneurologic disorder,Cases/families,Case(s),,5.0,Worldwide
2571,X-linked immunoneurologic disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261183,15q11.2 microdeletion syndrome,Cases/families,Case(s),,200.0,Worldwide
261183,15q11.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2585,Ataxia-pancytopenia syndrome,Cases/families,Case(s),,25.0,Worldwide
2585,Ataxia-pancytopenia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261144,FOXG1 syndrome due to 14q12 microdeletion,Cases/families,Case(s),,3.0,Worldwide
261144,FOXG1 syndrome due to 14q12 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261120,14q11.2 microdeletion syndrome,Cases/families,Case(s),,3.0,Worldwide
261120,14q11.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2579,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,Cases/families,Case(s),,12.0,Worldwide
2579,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261102,Distal 7q11.23 microduplication syndrome,Cases/families,Case(s),,5.0,Worldwide
261102,Distal 7q11.23 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2576,Mulibrey nanism,Cases/families,Case(s),,150.0,Worldwide
2576,Mulibrey nanism,Point prevalence,Class only,Unknown,0.0,Worldwide
2576,Mulibrey nanism,Annual incidence,Value and class,1-9 / 100 000,2.7,Finland
261236,16p13.11 microdeletion syndrome,Prevalence at birth,Value and class,1-9 / 100 000,7.0,Worldwide
261236,16p13.11 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2608,N syndrome,Cases/families,Case(s),,3.0,Worldwide
2608,N syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261243,16p13.11 microduplication syndrome,Cases/families,Case(s),,162.0,Worldwide
261243,16p13.11 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261222,Distal 16p11.2 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1359,Carney complex,Cases/families,Case(s),,750.0,Worldwide
1359,Carney complex,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2593,Tubular aggregate myopathy,Cases/families,Case(s),,60.0,Worldwide
2593,Tubular aggregate myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261229,14q11.2 microduplication syndrome,Cases/families,Case(s),,7.0,Worldwide
261229,14q11.2 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Cases/families,Case(s),,10.0,Worldwide
2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261204,16p11.2p12.2 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261204,16p11.2p12.2 microduplication syndrome,Cases/families,Case(s),,7.0,Worldwide
2589,Myoclonus-cerebellar ataxia-deafness syndrome,Cases/families,Case(s),,4.0,Worldwide
2589,Myoclonus-cerebellar ataxia-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261211,16p11.2p12.2 microdeletion syndrome,Cases/families,Case(s),,8.0,Worldwide
261211,16p11.2p12.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2588,Myhre syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261190,Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion,Cases/families,Case(s),,9.0,Worldwide
261190,Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261197,Proximal 16p11.2 microdeletion syndrome,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
261197,Proximal 16p11.2 microdeletion syndrome,Point prevalence,Value and class,1-5 / 10 000,20.0,United States
261295,20p12.3 microdeletion syndrome,Cases/families,Case(s),,3.0,Worldwide
261295,20p12.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261304,Paternal 20q13.2q13.3 microdeletion syndrome,Cases/families,Case(s),,2.0,Worldwide
261304,Paternal 20q13.2q13.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261279,17q23.1q23.2 microdeletion syndrome,Cases/families,Case(s),,7.0,Worldwide
261279,17q23.1q23.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261290,Trisomy 17p syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2617,"Microcephalic primordial dwarfism, Montreal type",Cases/families,Case(s),,3.0,Worldwide
2617,"Microcephalic primordial dwarfism, Montreal type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261265,17q12 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261265,17q12 microdeletion syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.16,Denmark
261265,17q12 microdeletion syndrome,Cases/families,Case(s),,103.0,Worldwide
261272,17q12 microduplication syndrome,Cases/families,Case(s),,118.0,Worldwide
261272,17q12 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261272,17q12 microduplication syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.46,Denmark
2616,3M syndrome,Cases/families,Case(s),,200.0,Worldwide
2616,3M syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
261250,16q24.3 microdeletion syndrome,Cases/families,Case(s),,27.0,Worldwide
261250,16q24.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2613,Nail-patella-like renal disease,Cases/families,Case(s),,3.0,Worldwide
2613,Nail-patella-like renal disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261257,Distal 17p13.3 microdeletion syndrome,Cases/families,Case(s),,16.0,Worldwide
261257,Distal 17p13.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261344,Trisomy 1q syndrome,Cases/families,Case(s),,18.0,Worldwide
261344,Trisomy 1q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261337,Distal 22q11.2 microduplication syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
261476,Xp21 deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261476,Xp21 deletion syndrome,Cases/families,Case(s),,100.0,Worldwide
261349,2p15p16.1 microdeletion syndrome,Cases/families,Case(s),,11.0,Worldwide
261349,2p15p16.1 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261318,Trisomy 20p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
261311,20q13.33 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2623,Geleophysic dysplasia,Cases/families,Case(s),,27.0,Worldwide
2623,Geleophysic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261330,Distal 22q11.2 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
261323,21q22.11q22.12 microdeletion syndrome,Cases/families,Case(s),,14.0,Worldwide
261323,21q22.11q22.12 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261524,Paternal uniparental disomy of chromosome X syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2639,Fibular aplasia-complex brachydactyly syndrome,Cases/families,Case(s),,16.0,Worldwide
2639,Fibular aplasia-complex brachydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261519,Maternal uniparental disomy of chromosome X syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
261534,"49,XXXYY syndrome",Cases/families,Case(s),,2.0,Worldwide
261534,"49,XXXYY syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261529,Ring chromosome Y syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2631,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,Cases/families,Case(s),,2.0,Worldwide
2631,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261494,Kleefstra syndrome,Cases/families,Case(s),,114.0,Worldwide
261494,Kleefstra syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261483,Xq27.3q28 duplication syndrome,Cases/families,Case(s),,8.0,Worldwide
261483,Xq27.3q28 duplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2632,Langer mesomelic dysplasia,Cases/families,Case(s),,100.0,Worldwide
2632,Langer mesomelic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2633,"Mesomelic dysplasia, Nievergelt type",Cases/families,Case(s),,19.0,Worldwide
2633,"Mesomelic dysplasia, Nievergelt type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261501,Atypical Norrie disease due to Xp11.3 microdeletion,Point prevalence,Class only,Unknown,0.0,Worldwide
2634,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",Point prevalence,Class only,Unknown,0.0,Worldwide
2645,Osteoglosphonic dysplasia,Cases/families,Case(s),,7.0,Worldwide
2645,Osteoglosphonic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261600,Alagille syndrome due to 20p12 microdeletion,Point prevalence,Class only,Unknown,0.0,Worldwide
2643,"Microcephalic primordial dwarfism, Toriello type",Cases/families,Case(s),,2.0,Worldwide
2643,"Microcephalic primordial dwarfism, Toriello type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2636,Microcephalic osteodysplastic primordial dwarfism types I and III,Cases/families,Case(s),,53.0,Worldwide
2636,Microcephalic osteodysplastic primordial dwarfism types I and III,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2658,Lenz-Majewski hyperostotic dysplasia,Cases/families,Case(s),,23.0,Worldwide
2658,Lenz-Majewski hyperostotic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
261638,Okihiro syndrome due to 20q13 microdeletion,Point prevalence,Class only,Unknown,0.0,Worldwide
261652,Kleefstra syndrome due to a point mutation,Cases/families,Case(s),,23.0,Worldwide
261652,Kleefstra syndrome due to a point mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
264200,14q22q23 microdeletion syndrome,Cases/families,Case(s),,5.0,Worldwide
264200,14q22q23 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3057,Monoamine oxidase A deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
3055,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,Cases/families,Case(s),,4.0,Worldwide
3055,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3052,X-linked intellectual disability-seizures-psoriasis syndrome,Cases/families,Case(s),,4.0,Worldwide
3052,X-linked intellectual disability-seizures-psoriasis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",Cases/families,Case(s),,122.0,Worldwide
3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3044,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,Cases/families,Case(s),,4.0,Worldwide
3044,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3042,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,Cases/families,Case(s),,13.0,Worldwide
3042,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3041,Intellectual disability-balding-patella luxation-acromicria syndrome,Cases/families,Case(s),,3.0,Worldwide
3041,Intellectual disability-balding-patella luxation-acromicria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3038,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,Cases/families,Case(s),,6.0,Worldwide
3038,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263665,NK-cell enteropathy,Cases/families,Case(s),,8.0,Worldwide
263665,NK-cell enteropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3035,Growth delay-hydrocephaly-lung hypoplasia syndrome,Cases/families,Case(s),,4.0,Worldwide
3035,Growth delay-hydrocephaly-lung hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263662,Familial multiple meningioma,Point prevalence,Class only,Unknown,0.0,Worldwide
3034,Delayed membranous cranial ossification,Cases/families,Family(ies),,2.0,Worldwide
3034,Delayed membranous cranial ossification,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263548,Peeling skin syndrome type A,Cases/families,Family(ies),,40.0,Worldwide
263548,Peeling skin syndrome type A,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3033,Renal tubular dysgenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
3033,Renal tubular dysgenesis,Prevalence at birth,Class only,Unknown,0.0,Worldwide
263553,Peeling skin syndrome type B,Cases/families,Family(ies),,30.0,Worldwide
263553,Peeling skin syndrome type B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3032,NPHP3-related Meckel-like syndrome,Cases/families,Case(s),,10.0,Worldwide
3032,NPHP3-related Meckel-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263534,Acral peeling skin syndrome,Cases/families,Case(s),,40.0,Worldwide
263534,Acral peeling skin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263543,Generalized peeling skin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
263516,Progressive myoclonic epilepsy type 3,Cases/families,Family(ies),,9.0,Worldwide
263516,Progressive myoclonic epilepsy type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263524,Acute necrotizing encephalopathy of childhood,Point prevalence,Class only,Unknown,0.0,Worldwide
263501,COG4-CDG,Cases/families,Case(s),,2.0,Worldwide
263501,COG4-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3026,Radial ray hypoplasia-choanal atresia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3026,Radial ray hypoplasia-choanal atresia syndrome,Cases/families,Case(s),,3.0,Worldwide
263508,COG1-CDG,Cases/families,Case(s),,3.0,Worldwide
263508,COG1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type",Cases/families,Case(s),,10.0,Worldwide
263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3021,RAPADILINO syndrome,Cases/families,Case(s),,20.0,Worldwide
3021,RAPADILINO syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263479,Fuchs heterochromic iridocyclitis,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Finland
263479,Fuchs heterochromic iridocyclitis,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Finland
263479,Fuchs heterochromic iridocyclitis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
263494,DPM3-CDG,Cases/families,Case(s),,1.0,Worldwide
263494,DPM3-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3023,External auditory canal atresia-vertical talus-hypertelorism syndrome,Cases/families,Case(s),,10.0,Worldwide
3023,External auditory canal atresia-vertical talus-hypertelorism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263487,COG5-CDG,Cases/families,Case(s),,9.0,Worldwide
263487,COG5-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263458,Hyperinsulinism due to INSR deficiency,Cases/families,Case(s),,10.0,Worldwide
263458,Hyperinsulinism due to INSR deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263455,Congenital hyperinsulinism due to HNF4A deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
1832,Osteosclerotic bone dysplasia,Cases/families,Case(s),,40.0,Worldwide
1832,Osteosclerotic bone dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3018,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,Cases/families,Case(s),,3.0,Worldwide
3018,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3019,Ramon syndrome,Cases/families,Case(s),,8.0,Worldwide
3019,Ramon syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263463,CHST3-related skeletal dysplasia,Cases/families,Family(ies),,2.0,Worldwide
263463,CHST3-related skeletal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263432,Nevus of Ito,Point prevalence,Value and class,1-9 / 100 000,1.17,Europe
263432,Nevus of Ito,Point prevalence,Class only,Unknown,0.0,Worldwide
263425,Nevus of Ota,Point prevalence,Class only,Unknown,0.0,Worldwide
3015,Radio-renal syndrome,Cases/families,Case(s),,4.0,Worldwide
3015,Radio-renal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263440,Neuroacanthocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263435,Congenital smooth muscle hamartoma,Prevalence at birth,Value and class,1-5 / 10 000,38.5,Israel
263435,Congenital smooth muscle hamartoma,Point prevalence,Class only,Unknown,0.0,Worldwide
3016,Absent radius-anogenital anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
3016,Absent radius-anogenital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263410,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,Cases/families,Case(s),,4.0,Worldwide
263410,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3010,Qazi-Markouizos syndrome,Cases/families,Case(s),,3.0,Worldwide
3010,Qazi-Markouizos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3011,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
3011,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
769,Rabson-Mendenhall syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263413,Angiosarcoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
263413,Angiosarcoma,Lifetime Prevalence,Value and class,<1 / 1 000 000,0.02,Europe
263413,Angiosarcoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3003,Pyknoachondrogenesis,Cases/families,Case(s),,5.0,Worldwide
3003,Pyknoachondrogenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263335,Moderately-differentiated thymic neuroendocrine carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
263339,Poorly differentiated thymic neuroendocrine carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
3005,Pyle disease,Cases/families,Case(s),,30.0,Worldwide
3005,Pyle disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263347,MRCS syndrome,Cases/families,Case(s),,7.0,Worldwide
263347,MRCS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263352,Postcardiotomy right ventricular failure,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
3004,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Spain
3004,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
263310,Thymoma type A,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
263310,Thymoma type A,Point prevalence,Class only,Unknown,0.0,Worldwide
2997,Ptosis-vocal cord paralysis syndrome,Cases/families,Case(s),,2.0,Worldwide
2997,Ptosis-vocal cord paralysis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263317,Thymoma type B,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
263317,Thymoma type B,Point prevalence,Class only,Unknown,0.0,Worldwide
263324,Thymoma type AB,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
263324,Thymoma type AB,Point prevalence,Class only,Unknown,0.0,Worldwide
2999,Ptosis-strabismus-ectopic pupils syndrome,Cases/families,Family(ies),,1.0,Worldwide
2999,Ptosis-strabismus-ectopic pupils syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
263331,Well-differentiated thymic neuroendocrine carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
2990,Autosomal recessive multiple pterygium syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2990,Autosomal recessive multiple pterygium syndrome,Cases/families,Case(s),,64.0,Worldwide
263297,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,Cases/families,Case(s),,1.0,Worldwide
263297,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2987,Antecubital pterygium syndrome,Cases/families,Case(s),,11.0,Worldwide
2987,Antecubital pterygium syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2985,Pseudoprogeria syndrome,Cases/families,Case(s),,2.0,Worldwide
2985,Pseudoprogeria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2988,Pterygium colli-intellectual disability-digital anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2988,Pterygium colli-intellectual disability-digital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3138,Ulnar-mammary syndrome,Cases/families,Case(s),,128.0,Worldwide
3138,Ulnar-mammary syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3145,Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome,Cases/families,Case(s),,19.0,Worldwide
3145,Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3143,Autoimmune polyendocrinopathy type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
3144,Schneckenbecken dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3132,Say-Barber-Miller syndrome,Cases/families,Case(s),,4.0,Worldwide
3132,Say-Barber-Miller syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3130,Satoyoshi syndrome,Cases/families,Case(s),,50.0,Worldwide
3130,Satoyoshi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
798,Schinzel-Giedion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
798,Schinzel-Giedion syndrome,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
798,Schinzel-Giedion syndrome,Cases/families,Case(s),,46.0,Worldwide
262941,Partial duplication of the long arm of chromosome 14 syndrome,Cases/families,Case(s),,50.0,Worldwide
262941,Partial duplication of the long arm of chromosome 14 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3134,SCARF syndrome,Cases/families,Case(s),,2.0,Worldwide
3134,SCARF syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3121,Ruvalcaba syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2909,Rothmund-Thomson syndrome,Cases/families,Case(s),,500.0,Worldwide
2909,Rothmund-Thomson syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3110,Rombo syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3115,Roussy-Lévy syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3101,Richieri Costa-da Silva syndrome,Cases/families,Case(s),,4.0,Worldwide
3101,Richieri Costa-da Silva syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3102,Richieri Costa-Pereira syndrome,Cases/families,Case(s),,33.0,Worldwide
3102,Richieri Costa-Pereira syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3104,Robin sequence-oligodactyly syndrome,Cases/families,Case(s),,3.0,Worldwide
3104,Robin sequence-oligodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3107,Autosomal dominant Robinow syndrome,Cases/families,Case(s),,100.0,Worldwide
3107,Autosomal dominant Robinow syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3109,Mayer-Rokitansky-Küster-Hauser syndrome,Prevalence at birth,Value and class,1-5 / 10 000,11.0,Worldwide
3109,Mayer-Rokitansky-Küster-Hauser syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
3086,Autosomal dominant vitreoretinochoroidopathy,Cases/families,Case(s),,3.0,Worldwide
3086,Autosomal dominant vitreoretinochoroidopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3088,Revesz syndrome,Cases/families,Case(s),,4.0,Worldwide
3088,Revesz syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3097,Meacham syndrome,Cases/families,Case(s),,13.0,Worldwide
3097,Meacham syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3098,"Rhizomelic syndrome, Urbach type",Cases/families,Case(s),,3.0,Worldwide
3098,"Rhizomelic syndrome, Urbach type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3078,"Severe X-linked intellectual disability, Gustavson type",Cases/families,Case(s),,7.0,Worldwide
3078,"Severe X-linked intellectual disability, Gustavson type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,Cases/families,Case(s),,6.0,Worldwide
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3080,"Intellectual disability, Wolff type",Cases/families,Case(s),,2.0,Worldwide
3080,"Intellectual disability, Wolff type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3079,"Intellectual disability, Buenos-Aires type",Cases/families,Case(s),,5.0,Worldwide
3079,"Intellectual disability, Buenos-Aires type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3063,"X-linked intellectual disability, Snyder type",Cases/families,Case(s),,21.0,Worldwide
3063,"X-linked intellectual disability, Snyder type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3068,Intellectual disability-myopathy-short stature-endocrine defect syndrome,Cases/families,Case(s),,2.0,Worldwide
3068,Intellectual disability-myopathy-short stature-endocrine defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268843,"Malformation of the neurenteric canal, spinal cord and column",Point prevalence,Class only,Unknown,0.0,Worldwide
2886,TARP syndrome,Cases/families,Family(ies),,6.0,Worldwide
2886,TARP syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268861,Primary tethered cord syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2885,Piebald trait-neurologic defects syndrome,Cases/families,Case(s),,8.0,Worldwide
2885,Piebald trait-neurologic defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2884,Piebaldism,Point prevalence,Class only,Unknown,0.0,Worldwide
2881,Cutaneous photosensitivity-lethal colitis syndrome,Cases/families,Case(s),,3.0,Worldwide
2881,Cutaneous photosensitivity-lethal colitis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2879,"Phocomelia, Schinzel type",Point prevalence,Class only,Unknown,0.0,Worldwide
268826,Parietal encephalocele,Point prevalence,Class only,Unknown,0.0,Worldwide
268829,Basal encephalocele,Point prevalence,Class only,Unknown,0.0,Worldwide
268882,Arnold-Chiari malformation type I,Point prevalence,Class only,Unknown,0.0,Worldwide
2892,Pilodental dysplasia-refractive errors syndrome,Cases/families,Case(s),,2.0,Worldwide
2892,Pilodental dysplasia-refractive errors syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2891,Pili torti-developmental delay-neurological abnormalities syndrome,Cases/families,Case(s),,2.0,Worldwide
2891,Pili torti-developmental delay-neurological abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2889,Pili torti,Point prevalence,Class only,Unknown,0.0,Worldwide
2890,Pili torti-onychodysplasia syndrome,Cases/families,Family(ies),,1.0,Worldwide
2890,Pili torti-onychodysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268865,Neurenteric cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
2888,Pierre Robin syndrome-faciodigital anomaly syndrome,Cases/families,Case(s),,2.0,Worldwide
2888,Pierre Robin syndrome-faciodigital anomaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268868,Isolated amyelia,Point prevalence,Class only,Unknown,0.0,Worldwide
2865,Short stature-webbed neck-heart disease syndrome,Cases/families,Case(s),,4.0,Worldwide
2865,Short stature-webbed neck-heart disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2866,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
2866,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2863,Short stature-wormian bones-dextrocardia syndrome,Cases/families,Case(s),,3.0,Worldwide
2863,Short stature-wormian bones-dextrocardia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268744,Spinal dysraphism with a posterior meningocele,Prevalence at birth,Value and class,1-5 / 10 000,33.0,Saudi Arabia
268744,Spinal dysraphism with a posterior meningocele,Point prevalence,Class only,Unknown,0.0,Worldwide
2875,Phakomatosis pigmentovascularis,Cases/families,Case(s),,248.0,Worldwide
2875,Phakomatosis pigmentovascularis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268823,Occipital encephalocele,Point prevalence,Class only,Unknown,0.0,Worldwide
2876,PHAVER syndrome,Cases/families,Case(s),,2.0,Worldwide
2876,PHAVER syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268820,Cranial meningocele,Point prevalence,Class only,Unknown,0.0,Worldwide
268817,Cephalocele,Point prevalence,Class only,Unknown,0.0,Worldwide
2874,Phakomatosis pigmentokeratotica,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2874,Phakomatosis pigmentokeratotica,Cases/families,Case(s),,34.0,Worldwide
268813,Myelocystocele,Point prevalence,Class only,Unknown,0.0,Worldwide
268810,Isolated posterior meningocele,Point prevalence,Class only,Unknown,0.0,Worldwide
2871,Pfeiffer-Palm-Teller syndrome,Cases/families,Case(s),,2.0,Worldwide
2871,Pfeiffer-Palm-Teller syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2872,"Cardiocranial syndrome, Pfeiffer type",Cases/families,Case(s),,7.0,Worldwide
2872,"Cardiocranial syndrome, Pfeiffer type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2867,"Short stature, Brussels type",Cases/families,Case(s),,2.0,Worldwide
2867,"Short stature, Brussels type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2868,Short stature-valvular heart disease-characteristic facies syndrome,Cases/families,Case(s),,3.0,Worldwide
2868,Short stature-valvular heart disease-characteristic facies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2846,Congenital pericardium anomaly,Point prevalence,Class only,Unknown,0.0,Worldwide
2842,Penoscrotal transposition,Point prevalence,Class only,Unknown,0.0,Worldwide
2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,Cases/families,Family(ies),,30.0,Worldwide
2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2847,Pericardial and diaphragmatic defect,Cases/families,Case(s),,20.0,Worldwide
2847,Pericardial and diaphragmatic defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268357,Neural tube closure defect,Point prevalence,Class only,Unknown,0.0,Worldwide
2838,Renal caliceal diverticuli-deafness syndrome,Cases/families,Case(s),,4.0,Worldwide
2838,Renal caliceal diverticuli-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268322,Hereditary thrombocytopenia with normal platelets,Point prevalence,Class only,Unknown,0.0,Worldwide
2840,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,Cases/families,Case(s),,5.0,Worldwide
2840,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2839,Pelvis-shoulder dysplasia,Cases/families,Case(s),,10.0,Worldwide
2839,Pelvis-shoulder dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2855,Perrault syndrome,Cases/families,Case(s),,124.0,Worldwide
2855,Perrault syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2854,Fuhrmann syndrome,Cases/families,Case(s),,11.0,Worldwide
2854,Fuhrmann syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
708,Peters anomaly,Cases/families,Case(s),,60.0,Worldwide
708,Peters anomaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268363,Open iniencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
268366,Closed iniencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
2850,Alopecia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2850,Alopecia-intellectual disability syndrome,Cases/families,Family(ies),,15.0,Worldwide
268369,Open spinal dysraphism,Prevalence at birth,Value and class,1-5 / 10 000,51.5,Germany
268369,Open spinal dysraphism,Point prevalence,Class only,Unknown,0.0,Worldwide
268369,Open spinal dysraphism,Prevalence at birth,Value and class,1-5 / 10 000,50.0,France
268369,Open spinal dysraphism,Prevalence at birth,Value and class,>1 / 1000,400.0,Ireland
268369,Open spinal dysraphism,Prevalence at birth,Value and class,6-9 / 10 000,62.0,Latin America
268369,Open spinal dysraphism,Point prevalence,Value and class,>1 / 1000,400.0,United Kingdom
268114,RAS-associated autoimmune leukoproliferative disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268114,RAS-associated autoimmune leukoproliferative disease,Cases/families,Case(s),,20.0,Worldwide
2825,PARC syndrome,Cases/families,Case(s),,2.0,Worldwide
2825,PARC syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2826,Spastic paraplegia-precocious puberty syndrome,Cases/families,Case(s),,2.0,Worldwide
2826,Spastic paraplegia-precocious puberty syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268139,Intraocular medulloepithelioma,Point prevalence,Class only,Unknown,0.0,Worldwide
268129,Spheroid body myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
2819,Spastic paraplegia-facial-cutaneous lesions syndrome,Cases/families,Case(s),,5.0,Worldwide
2819,Spastic paraplegia-facial-cutaneous lesions syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2820,Spastic paraplegia-nephritis-deafness syndrome,Cases/families,Case(s),,4.0,Worldwide
2820,Spastic paraplegia-nephritis-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2821,Spastic paraplegia-neuropathy-poikiloderma syndrome,Cases/families,Family(ies),,1.0,Worldwide
2821,Spastic paraplegia-neuropathy-poikiloderma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2822,Autosomal recessive spastic paraplegia type 11,Point prevalence,Value and class,1-9 / 1 000 000,0.26,Portugal
2835,Pectus excavatum-macrocephaly-dysplastic nails syndrome,Cases/families,Family(ies),,1.0,Worldwide
2835,Pectus excavatum-macrocephaly-dysplastic nails syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268261,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,Cases/families,Case(s),,19.0,Worldwide
268261,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2836,PEHO syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
268249,Mycophenolate mofetil embryopathy,Cases/families,Case(s),,25.0,Worldwide
268249,Mycophenolate mofetil embryopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268316,Complication in hemodialysis,Annual incidence,Value and class,1-5 / 10 000,13.0,Europe
268316,Complication in hemodialysis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
268162,Intermediate maple syrup urine disease,Prevalence at birth,Class only,Unknown,0.0,Worldwide
268162,Intermediate maple syrup urine disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
2832,Short tarsus-absence of lower eyelashes syndrome,Cases/families,Case(s),,11.0,Worldwide
2832,Short tarsus-absence of lower eyelashes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268145,Classic maple syrup urine disease,Prevalence at birth,Class only,Unknown,0.0,Worldwide
268145,Classic maple syrup urine disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
268184,Thiamine-responsive maple syrup urine disease,Prevalence at birth,Class only,Unknown,0.0,Worldwide
268184,Thiamine-responsive maple syrup urine disease,Point prevalence,Class only,Unknown,0.0,Europe
2833,Stiff skin syndrome,Cases/families,Case(s),,54.0,Worldwide
2833,Stiff skin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2834,Wrinkly skin syndrome,Cases/families,Case(s),,30.0,Worldwide
2834,Wrinkly skin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268173,Intermittent maple syrup urine disease,Prevalence at birth,Class only,Unknown,0.0,Worldwide
268173,Intermittent maple syrup urine disease,Point prevalence,Class only,Unknown,0.0,Europe
2969,Proteus-like syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2964,Autosomal dominant prognathism,Cases/families,Family(ies),,55.0,Worldwide
2964,Autosomal dominant prognathism,Point prevalence,Class only,Unknown,0.0,Worldwide
2962,De Barsy syndrome,Cases/families,Case(s),,40.0,Worldwide
2962,De Barsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2972,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,Cases/families,Case(s),,4.0,Worldwide
2972,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
750,Pseudoachondroplasia,Point prevalence,Value and class,1-9 / 100 000,3.3,Worldwide
2976,"Pseudoleprechaunism syndrome, Patterson type",Cases/families,Case(s),,2.0,Worldwide
2976,"Pseudoleprechaunism syndrome, Patterson type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2975,"46,XX difference of sex development-skeletal anomalies syndrome",Cases/families,Case(s),,2.0,Worldwide
2975,"46,XX difference of sex development-skeletal anomalies syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2980,Acrootoocular syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2978,Chronic intestinal pseudoobstruction syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2946,Brachydactyly-long thumb syndrome,Cases/families,Case(s),,4.0,Worldwide
2946,Brachydactyly-long thumb syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,1.7,Europe
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,4.5,France
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,5.8,Germany
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,1.4,Italy
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,5.7,Netherlands
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-5 / 10 000,10.8,Ireland
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,3.2,Norway
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,1.2,Poland
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Spain
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,2.2,Hungary
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-5 / 10 000,19.0,Denmark
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,9.7,Austria
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,3.0,Belgium
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-5 / 10 000,13.6,Croatia
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-5 / 10 000,24.1,Malta
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,1.2,United Kingdom
1848,"Renal agenesis, bilateral",Prevalence at birth,Value and class,1-9 / 100 000,3.2,Ukraine
1848,"Renal agenesis, bilateral",Point prevalence,Class only,Unknown,0.0,Europe
2951,Absent thumb-short stature-immunodeficiency syndrome,Cases/families,Case(s),,3.0,Worldwide
2951,Absent thumb-short stature-immunodeficiency syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2947,Triphalangeal thumbs-brachyectrodactyly syndrome,Cases/families,Family(ies),,4.0,Worldwide
2947,Triphalangeal thumbs-brachyectrodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
264978,Drug or radiation exposure-related interstitial lung disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2956,Acrodysplasia scoliosis,Cases/families,Case(s),,2.0,Worldwide
2956,Acrodysplasia scoliosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",Cases/families,Case(s),,9.0,Worldwide
2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
740,Hutchinson-Gilford progeria syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.025,Worldwide
740,Hutchinson-Gilford progeria syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.005,Worldwide
2959,Progeria-short stature-pigmented nevi syndrome,Cases/families,Case(s),,11.0,Worldwide
2959,Progeria-short stature-pigmented nevi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2957,Guttmacher syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2957,Guttmacher syndrome,Cases/families,Case(s),,3.0,Worldwide
2958,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,Cases/families,Case(s),,8.0,Worldwide
2958,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2924,Isolated polycystic liver disease,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
2926,Digital extensor muscle aplasia-polyneuropathy,Cases/families,Case(s),,3.0,Worldwide
2926,Digital extensor muscle aplasia-polyneuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2928,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,Cases/families,Case(s),,3.0,Worldwide
2928,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2930,Cronkhite-Canada syndrome,Cases/families,Case(s),,500.0,Worldwide
2930,Cronkhite-Canada syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2935,Crossed polysyndactyly,Cases/families,Case(s),,12.0,Worldwide
2935,Crossed polysyndactyly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2934,Polysyndactyly-cardiac malformation syndrome,Cases/families,Case(s),,8.0,Worldwide
2934,Polysyndactyly-cardiac malformation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2941,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,Cases/families,Case(s),,2.0,Worldwide
2941,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2940,Porencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
2940,Porencephaly,Prevalence at birth,Value and class,1-9 / 100 000,3.5,United States
2940,Porencephaly,Prevalence at birth,Value and class,1-9 / 100 000,5.2,Japan
2896,Pitt-Hopkins syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
2896,Pitt-Hopkins syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2899,Brachyolmia-amelogenesis imperfecta syndrome,Cases/families,Case(s),,15.0,Worldwide
2899,Brachyolmia-amelogenesis imperfecta syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2900,Leri pleonosteosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2905,POEMS syndrome,Point prevalence,Class only,Unknown,0.0,Europe
2905,POEMS syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.33,Japan
264450,Trisomy 8p syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Worldwide
264450,Trisomy 8p syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2907,Hereditary acrokeratotic poikiloderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2907,Hereditary acrokeratotic poikiloderma,Cases/families,Case(s),,41.0,Worldwide
2911,Poland syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.1,Canada
2911,Poland syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Canada
2911,Poland syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Europe
2911,Poland syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
2916,Postaxial polydactyly-dental and vertebral anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
2916,Postaxial polydactyly-dental and vertebral anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2917,Polydactyly-myopia syndrome,Cases/families,Family(ies),,1.0,Worldwide
2917,Polydactyly-myopia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2919,Orofaciodigital syndrome type 5,Cases/families,Case(s),,12.0,Worldwide
2919,Orofaciodigital syndrome type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
264675,Hereditary pulmonary alveolar proteinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2920,Oliver syndrome,Cases/families,Case(s),,7.0,Worldwide
2920,Oliver syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
264691,Isolated pulmonary capillaritis,Point prevalence,Class only,Unknown,0.0,Worldwide
2921,Preaxial polydactyly-colobomata-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2921,Preaxial polydactyly-colobomata-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
264688,Congenital chylothorax,Point prevalence,Class only,Unknown,0.0,Worldwide
264688,Congenital chylothorax,Prevalence at birth,Value and class,1-9 / 100 000,4.17,Germany
3374,Unilateral ocular duplication,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275803,Pulmonary arterial hypertension associated with congenital heart disease,Point prevalence,Value and class,1-9 / 1 000 000,0.17,France
275803,Pulmonary arterial hypertension associated with congenital heart disease,Annual incidence,Value and class,<1 / 1 000 000,0.026,France
275803,Pulmonary arterial hypertension associated with congenital heart disease,Point prevalence,Value and class,1-9 / 1 000 000,0.95,United Kingdom
275803,Pulmonary arterial hypertension associated with congenital heart disease,Annual incidence,Value and class,1-9 / 1 000 000,0.2,United Kingdom
275803,Pulmonary arterial hypertension associated with congenital heart disease,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Spain
275803,Pulmonary arterial hypertension associated with congenital heart disease,Point prevalence,Value and class,1-9 / 1 000 000,0.46,Czech Republic
275803,Pulmonary arterial hypertension associated with congenital heart disease,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Czech Republic
275803,Pulmonary arterial hypertension associated with congenital heart disease,Point prevalence,Class only,1-9 / 100 000,0.0,Netherlands
275803,Pulmonary arterial hypertension associated with congenital heart disease,Point prevalence,Value and class,1-9 / 1 000 000,0.57,Europe
275808,Pulmonary arterial hypertension associated with HIV infection,Point prevalence,Class only,Unknown,0.0,Worldwide
275813,Pulmonary arterial hypertension associated with portal hypertension,Point prevalence,Class only,Unknown,0.0,Worldwide
1717,Distal duplication 19q syndrome,Cases/families,Case(s),,36.0,Worldwide
1717,Distal duplication 19q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3377,Trismus-pseudocamptodactyly syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
275823,Pulmonary arterial hypertension associated with schistosomiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
3368,Trigonocephaly-bifid nose-acral anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
3368,Trigonocephaly-bifid nose-acral anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275777,Heritable pulmonary arterial hypertension,Point prevalence,Value and class,<1 / 1 000 000,0.08,Europe
275777,Heritable pulmonary arterial hypertension,Point prevalence,Value and class,<1 / 1 000 000,0.08,France
275777,Heritable pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Czech Republic
275786,Drug- or toxin-induced pulmonary arterial hypertension,Point prevalence,Class only,1-9 / 1 000 000,0.0,France
275791,Pulmonary arterial hypertension associated with another disease,Point prevalence,Class only,Unknown,0.0,Worldwide
3369,Trigonocephaly-short stature-developmental delay syndrome,Cases/families,Case(s),,3.0,Worldwide
3369,Trigonocephaly-short stature-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275798,Pulmonary arterial hypertension associated with connective tissue disease,Point prevalence,Value and class,1-9 / 1 000 000,0.23,France
275798,Pulmonary arterial hypertension associated with connective tissue disease,Annual incidence,Value and class,<1 / 1 000 000,0.036,France
275798,Pulmonary arterial hypertension associated with connective tissue disease,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Spain
275798,Pulmonary arterial hypertension associated with connective tissue disease,Point prevalence,Value and class,1-9 / 100 000,1.25,United Kingdom
275798,Pulmonary arterial hypertension associated with connective tissue disease,Annual incidence,Value and class,1-9 / 1 000 000,0.25,United Kingdom
275798,Pulmonary arterial hypertension associated with connective tissue disease,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Czech Republic
275798,Pulmonary arterial hypertension associated with connective tissue disease,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Czech Republic
275798,Pulmonary arterial hypertension associated with connective tissue disease,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Europe
3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,Cases/families,Case(s),,14.0,Worldwide
3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275761,Lysosomal acid lipase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.27,Czech Republic
275761,Lysosomal acid lipase deficiency,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
3366,Non-syndromic metopic craniosynostosis,Prevalence at birth,Value and class,1-9 / 100 000,6.7,Europe
3366,Non-syndromic metopic craniosynostosis,Point prevalence,Value and class,1-5 / 10 000,10.2979,Europe
3365,Trigonocephaly-broad thumbs syndrome,Cases/families,Case(s),,2.0,Worldwide
3365,Trigonocephaly-broad thumbs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 1 000 000,0.59,France
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.1,France
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 1 000 000,0.56,Spain
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Spain
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.4,Czech Republic
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.62,Czech Republic
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 1 000 000,0.86,Switzerland
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Switzerland
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.25,United Kingdom
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.7,United Kingdom
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.11,United States
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Belgium
275766,Idiopathic pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Israel
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Israel
275766,Idiopathic pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.1,Europe
3361,Trichodysplasia-xeroderma syndrome,Cases/families,Family(ies),,1.0,Worldwide
3361,Trichodysplasia-xeroderma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3408,Upington disease,Cases/families,Family(ies),,1.0,Worldwide
3408,Upington disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3409,Urban-Rogers-Meyer syndrome,Cases/families,Case(s),,3.0,Worldwide
3409,Urban-Rogers-Meyer syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.73,Europe
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.85,Austria
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.986,Germany
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.809,Iceland
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.737,Ireland
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.98,Latvia
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.817,Malta
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.864,Norway
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.937,Poland
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.899,Portugal
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.99,Slovakia
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.657,Slovenia
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.919,Spain
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.906,Switzerland
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.786,Netherlands
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 1 000 000,0.906,United Kingdom
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.121,Belgium
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.026,Bulgaria
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.261,Croatia
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.113,Czech Republic
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.127,Estonia
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.093,Finland
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.227,Italy
276145,Malignant epithelial tumor of salivary glands,Annual incidence,Value and class,1-9 / 100 000,1.213,Lithuania
276161,Multiple endocrine neoplasia,Annual incidence,Value and class,<1 / 1 000 000,0.05,Ireland
276161,Multiple endocrine neoplasia,Point prevalence,Class only,Unknown,0.0,Europe
3412,VACTERL with hydrocephalus,Cases/families,Family(ies),,10.0,Worldwide
3412,VACTERL with hydrocephalus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276152,Multiple endocrine neoplasia type 4,Point prevalence,Class only,Unknown,0.0,Worldwide
3403,Uhl anomaly,Cases/families,Case(s),,84.0,Worldwide
3403,Uhl anomaly,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
3403,Uhl anomaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3404,Ulbright-Hodes syndrome,Cases/families,Case(s),,3.0,Worldwide
3404,Ulbright-Hodes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276066,Bile acid CoA ligase deficiency and defective amidation,Point prevalence,Class only,Unknown,0.0,Worldwide
275872,Frontotemporal dementia with motor neuron disease,Point prevalence,Class only,Unknown,0.0,Worldwide
3383,Humerus trochlea aplasia,Cases/families,Case(s),,5.0,Worldwide
3383,Humerus trochlea aplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,4.3,Worldwide
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Europe
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Belgium
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,9.8,France
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Germany
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,5.5,Hungary
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Ireland
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Italy
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Netherlands
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Norway
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Poland
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Spain
3384,Common arterial trunk,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Switzerland
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,7.7,United Kingdom
3384,Common arterial trunk,Prevalence at birth,Value and class,1-9 / 100 000,6.4,Ukraine
3384,Common arterial trunk,Point prevalence,Class only,Unknown,0.0,Worldwide
275864,Behavioral variant of frontotemporal dementia,Point prevalence,Value and class,1-9 / 100 000,4.0,Netherlands
275944,Hemolytic disease of the newborn with Kell alloimmunization,Annual incidence,Value and class,>1 / 1000,116.0,United Kingdom
275944,Hemolytic disease of the newborn with Kell alloimmunization,Point prevalence,Class only,Unknown,0.0,Worldwide
3387,Isolated anterior cervical hypertrichosis,Cases/families,Case(s),,20.0,Worldwide
3387,Isolated anterior cervical hypertrichosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,55.0,United States
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,91.05,Europe
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,88.75,Belgium
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,76.8,Austria
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,74.7,Czech Republic
3388,Neural tube defect,Prevalence at birth,Value and class,1-5 / 10 000,47.9,Croatia
3388,Neural tube defect,Prevalence at birth,Value and class,>1 / 1000,109.6,Denmark
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,86.7,Finland
3388,Neural tube defect,Prevalence at birth,Value and class,>1 / 1000,120.2,France
3388,Neural tube defect,Prevalence at birth,Value and class,>1 / 1000,138.25,Germany
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,67.2,Hungary
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,87.4,Ireland
3388,Neural tube defect,Prevalence at birth,Value and class,1-5 / 10 000,54.65,Italy
3388,Neural tube defect,Prevalence at birth,Value and class,>1 / 1000,109.5,Malta
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,84.2,Netherlands
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,92.7,Norway
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,92.5,Poland
3388,Neural tube defect,Prevalence at birth,Value and class,1-5 / 10 000,47.3,Portugal
3388,Neural tube defect,Prevalence at birth,Value and class,6-9 / 10 000,98.5,Spain
3388,Neural tube defect,Prevalence at birth,Value and class,>1 / 1000,101.7,Switzerland
3388,Neural tube defect,Prevalence at birth,Value and class,>1 / 1000,115.5,United Kingdom
3388,Neural tube defect,Prevalence at birth,Value and class,>1 / 1000,1387.0,China
3388,Neural tube defect,Prevalence at birth,Value and class,1-5 / 10 000,31.0,Brazil
1723,Mosaic trisomy 2 syndrome,Cases/families,Case(s),,22.0,Worldwide
1723,Mosaic trisomy 2 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275828,Pulmonary arterial hypertension associated with chronic hemolytic anemia,Point prevalence,Class only,Unknown,0.0,Worldwide
1724,Mosaic trisomy 20 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1747,Mosaic trisomy 7 syndrome,Cases/families,Case(s),,31.0,Worldwide
1747,Mosaic trisomy 7 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3329,Tibial aplasia-ectrodactyly syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
3328,Absent tibia-polydactyly-arachnoid cyst syndrome,Cases/families,Case(s),,3.0,Worldwide
3328,Absent tibia-polydactyly-arachnoid cyst syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3327,Thyrocerebrorenal syndrome,Cases/families,Case(s),,2.0,Worldwide
3327,Thyrocerebrorenal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3326,Thymic-renal-anal-lung dysplasia,Cases/families,Case(s),,3.0,Worldwide
3326,Thymic-renal-anal-lung dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3322,Hoyeraal-Hreidarsson syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3322,Hoyeraal-Hreidarsson syndrome,Cases/families,Case(s),,33.0,Worldwide
3317,Thoracolaryngopelvic dysplasia,Cases/families,Case(s),,10.0,Worldwide
3317,Thoracolaryngopelvic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3316,Thomas syndrome,Cases/families,Case(s),,6.0,Worldwide
3316,Thomas syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3314,"Thiemann disease, familial form",Cases/families,Case(s),,33.0,Worldwide
3314,"Thiemann disease, familial form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3355,Trichoodontoonychial dysplasia,Cases/families,Case(s),,4.0,Worldwide
3355,Trichoodontoonychial dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275555,Preeclampsia,Point prevalence,Value and class,1-5 / 10 000,45.0,Europe
275543,L1 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3353,Trichodermodysplasia-dental alterations syndrome,Cases/families,Case(s),,3.0,Worldwide
3353,Trichodermodysplasia-dental alterations syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275523,Dianzani autoimmune lymphoproliferative disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275523,Dianzani autoimmune lymphoproliferative disease,Cases/families,Case(s),,30.0,Worldwide
3351,Trichodental syndrome,Cases/families,Family(ies),,5.0,Worldwide
3351,Trichodental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275517,Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
275517,Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency,Cases/families,Family(ies),,1.0,Worldwide
3352,Tricho-dento-osseous syndrome,Cases/families,Case(s),,30.0,Worldwide
3352,Tricho-dento-osseous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3350,Tremor-nystagmus-duodenal ulcer syndrome,Cases/families,Case(s),,17.0,Worldwide
3350,Tremor-nystagmus-duodenal ulcer syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3344,Weismann-Netter syndrome,Cases/families,Case(s),,100.0,Worldwide
3344,Weismann-Netter syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3347,Mounier-Kühn syndrome,Cases/families,Case(s),,300.0,Worldwide
3347,Mounier-Kühn syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3341,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,Cases/families,Case(s),,7.0,Worldwide
3341,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3342,Arterial tortuosity syndrome,Cases/families,Case(s),,102.0,Worldwide
3342,Arterial tortuosity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3339,Oculoectodermal syndrome,Cases/families,Case(s),,19.0,Worldwide
3339,Oculoectodermal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.2222,Worldwide
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1474,Argentina
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.147,Australia
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1511,Austria
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1484,Bangladesh
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1504,Belgium
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.5694,Bulgaria
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1476,Canada
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1481,China
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.25,Cyprus
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1509,Czech Republic
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1403,Denmark
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.149,Ecuador
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1454,Finland
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.7514,France
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1486,Germany
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1481,Greece
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.153,Hungary
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1481,India
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1578,Ireland
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1428,Israel
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.9046,Italy
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1473,Poland
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-5 / 10 000,19.9126,Portugal
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1464,Romania
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1485,Russian Federation
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1428,Slovenia
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1487,Spain
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1476,Sri Lanka
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 100 000,2.5816,Sweden
271861,Hereditary ATTR amyloidosis,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.1445,Switzerland
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1489,"Taiwan, Province of China"
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,<1 / 1 000 000,0.0317,Turkey
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.149,United Kingdom
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,<1 / 1 000 000,0.0968,Japan
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1482,"Korea, Republic of"
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1666,Luxembourg
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1485,Malaysia
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.148,Mexico
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.2662,Netherlands
271861,Hereditary ATTR amyloidosis,Point prevalence,Value and class,1-9 / 100 000,0.1521,New Zealand
3338,Toriello-Carey syndrome,Cases/families,Case(s),,59.0,Worldwide
3338,Toriello-Carey syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3469,XK aprosencephaly syndrome,Cases/families,Case(s),,10.0,Worldwide
3469,XK aprosencephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3472,Yunis-Varon syndrome,Cases/families,Case(s),,25.0,Worldwide
3472,Yunis-Varon syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3471,Young syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3319,Congenital amegakaryocytic thrombocytopenia,Point prevalence,Class only,Unknown,0.0,Worldwide
3319,Congenital amegakaryocytic thrombocytopenia,Cases/families,Case(s),,100.0,Worldwide
3319,Congenital amegakaryocytic thrombocytopenia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.15,United Kingdom
3473,Zimmermann-Laband syndrome,Cases/families,Case(s),,52.0,Worldwide
3473,Zimmermann-Laband syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3459,Wilson-Turner syndrome,Cases/families,Case(s),,28.0,Worldwide
3459,Wilson-Turner syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3464,Woodhouse-Sakati syndrome,Cases/families,Family(ies),,25.0,Worldwide
3464,Woodhouse-Sakati syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3466,WT limb-blood syndrome,Cases/families,Family(ies),,3.0,Worldwide
3466,WT limb-blood syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3465,Worster-Drought syndrome,Point prevalence,Value and class,1-9 / 100 000,3.7,Europe
2749,Oromandibular-limb hypogenesis syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
2995,Baraitser-Winter cerebrofrontofacial syndrome,Cases/families,Case(s),,60.0,Worldwide
2995,Baraitser-Winter cerebrofrontofacial syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3200,Arthrogryposis-ectodermal dysplasia syndrome,Cases/families,Case(s),,2.0,Worldwide
3200,Arthrogryposis-ectodermal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1570,Symbrachydactyly of hands and feet,Cases/families,Case(s),,2.0,Worldwide
1570,Symbrachydactyly of hands and feet,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3243,Sweet syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1827,Acromelic frontonasal dysplasia,Cases/families,Case(s),,22.0,Worldwide
1827,Acromelic frontonasal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2076,X-linked intellectual disability-epilepsy syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
268980,Isolated focal cortical dysplasia type Ib,Point prevalence,Class only,Unknown,0.0,Worldwide
268987,Isolated focal cortical dysplasia type Ic,Point prevalence,Class only,Unknown,0.0,Worldwide
3424,Velo-facial-skeletal syndrome,Cases/families,Case(s),,2.0,Worldwide
3424,Velo-facial-skeletal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268973,Isolated focal cortical dysplasia type Ia,Point prevalence,Class only,Unknown,0.0,Worldwide
269008,Isolated focal cortical dysplasia type IIb,Point prevalence,Class only,Unknown,0.0,Worldwide
3433,Microcephaly-brachydactyly-kyphoscoliosis syndrome,Cases/families,Case(s),,3.0,Worldwide
3433,Microcephaly-brachydactyly-kyphoscoliosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268994,Isolated focal cortical dysplasia type II,Point prevalence,Class only,Unknown,0.0,Worldwide
3429,Verloove Vanhorick-Brubakk syndrome,Cases/families,Case(s),,2.0,Worldwide
3429,Verloove Vanhorick-Brubakk syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
269001,Isolated focal cortical dysplasia type IIa,Point prevalence,Class only,Unknown,0.0,Worldwide
2460,Van den Ende-Gupta syndrome,Cases/families,Case(s),,29.0,Worldwide
2460,Van den Ende-Gupta syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268940,Bilateral polymicrogyria,Point prevalence,Class only,Unknown,0.0,Worldwide
268943,Unilateral polymicrogyria,Point prevalence,Class only,Unknown,0.0,Worldwide
3416,Hyperostosis corticalis generalisata,Cases/families,Case(s),,35.0,Worldwide
3416,Hyperostosis corticalis generalisata,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268926,Midline cerebral malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
268936,Isolated arhinencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
268961,Isolated focal cortical dysplasia type I,Point prevalence,Class only,Unknown,0.0,Worldwide
268947,Unilateral focal polymicrogyria,Point prevalence,Class only,Unknown,0.0,Worldwide
268950,Cerebral cortical dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
269229,Pontine tegmental cap dysplasia,Cases/families,Case(s),,22.0,Worldwide
269229,Pontine tegmental cap dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3453,Autoimmune polyendocrinopathy type 1,Point prevalence,Value and class,1-9 / 100 000,4.0,Finland
3453,Autoimmune polyendocrinopathy type 1,Point prevalence,Value and class,1-9 / 1 000 000,0.5,France
3453,Autoimmune polyendocrinopathy type 1,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
269224,Global cerebellar malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
3448,Weaver-Williams syndrome,Cases/families,Case(s),,2.0,Worldwide
3448,Weaver-Williams syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
269221,Isolated bilateral hemispheric cerebellar hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
3449,Weill-Marchesani syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
269218,Isolated unilateral hemispheric cerebellar hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
3456,Wildervanck syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
269510,Congenital non-communicating hydrocephalus,Point prevalence,Class only,Unknown,0.0,Worldwide
3454,Wieacker-Wolff syndrome,Cases/families,Family(ies),,5.0,Worldwide
3454,Wieacker-Wolff syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3455,Wiedemann-Rautenstrauch syndrome,Cases/families,Case(s),,37.0,Worldwide
3455,Wiedemann-Rautenstrauch syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
269505,Congenital communicating hydrocephalus,Point prevalence,Class only,Unknown,0.0,Worldwide
269203,Isolated cerebellar vermis agenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
269197,Glioependymal/ependymal cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
3434,MMEP syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
269215,Isolated Dandy-Walker malformation without hydrocephalus,Point prevalence,Class only,Unknown,0.0,Worldwide
269212,Isolated Dandy-Walker malformation with hydrocephalus,Point prevalence,Class only,Unknown,0.0,Worldwide
269209,Isolated partial cerebellar vermis agenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
269206,Isolated total cerebellar vermis agenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
1856,Spondyloperipheral dysplasia-short ulna syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1856,Spondyloperipheral dysplasia-short ulna syndrome,Cases/families,Family(ies),,10.0,Worldwide
280315,Autoimmune pancreatitis type 2,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Worldwide
3181,Sprengel deformity,Point prevalence,Class only,Unknown,0.0,Worldwide
280302,Autoimmune pancreatitis type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
280333,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,Cases/families,Case(s),,1.0,Worldwide
280333,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280325,Distal deletion 12p syndrome,Cases/families,Case(s),,8.0,Worldwide
280325,Distal deletion 12p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280293,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,Point prevalence,Class only,Unknown,0.0,Worldwide
280288,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,Point prevalence,Class only,Unknown,0.0,Worldwide
3194,Corneodermatoosseous syndrome,Cases/families,Case(s),,7.0,Worldwide
3194,Corneodermatoosseous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280365,Autosomal semi-dominant severe lipodystrophic laminopathy,Cases/families,Case(s),,7.0,Worldwide
280365,Autosomal semi-dominant severe lipodystrophic laminopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280379,Erythropoietic uroporphyria associated with myeloid malignancy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3197,Hereditary hyperekplexia,Cases/families,Case(s),,150.0,Worldwide
3197,Hereditary hyperekplexia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3199,Stimmler syndrome,Cases/families,Case(s),,2.0,Worldwide
3199,Stimmler syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3184,Steatocystoma multiplex-natal teeth syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3186,Holoprosencephaly-radial heart renal anomalies syndrome,Cases/families,Case(s),,4.0,Worldwide
3186,Holoprosencephaly-radial heart renal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3191,Subaortic stenosis-short stature syndrome,Cases/families,Family(ies),,1.0,Worldwide
3191,Subaortic stenosis-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3193,Supravalvular aortic stenosis,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Europe
3193,Supravalvular aortic stenosis,Point prevalence,Value and class,1-5 / 10 000,13.3,Europe
280356,PLIN1-related familial partial lipodystrophy,Cases/families,Case(s),,3.0,Worldwide
280356,PLIN1-related familial partial lipodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3214,"Deaf blind hypopigmentation syndrome, Yemenite type",Cases/families,Case(s),,2.0,Worldwide
3214,"Deaf blind hypopigmentation syndrome, Yemenite type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280403,Familial omphalocele syndrome with facial dysmorphism,Cases/families,Case(s),,5.0,Worldwide
280403,Familial omphalocele syndrome with facial dysmorphism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280406,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,Cases/families,Case(s),,13.0,Worldwide
280406,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3201,Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
280384,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,Cases/families,Case(s),,12.0,Worldwide
280384,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280397,Familial Alzheimer-like prion disease,Cases/families,Case(s),,2.0,Worldwide
280397,Familial Alzheimer-like prion disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280576,Nestor-Guillermo progeria syndrome,Cases/families,Case(s),,2.0,Worldwide
280576,Nestor-Guillermo progeria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3220,Deafness-enamel hypoplasia-nail defects syndrome,Cases/families,Family(ies),,15.0,Worldwide
3220,Deafness-enamel hypoplasia-nail defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3219,Fountain syndrome,Cases/families,Case(s),,8.0,Worldwide
3219,Fountain syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3222,Phosphoribosylpyrophosphate synthetase superactivity,Cases/families,Family(ies),,30.0,Worldwide
3222,Phosphoribosylpyrophosphate synthetase superactivity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280586,"Chondrodysplasia with joint dislocations, gPAPP type",Cases/families,Case(s),,4.0,Worldwide
280586,"Chondrodysplasia with joint dislocations, gPAPP type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3217,Deafness-small bowel diverticulosis-neuropathy syndrome,Cases/families,Case(s),,5.0,Worldwide
3217,Deafness-small bowel diverticulosis-neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280553,Fatal infantile hypertonic myofibrillar myopathy,Cases/families,Case(s),,11.0,Worldwide
280553,Fatal infantile hypertonic myofibrillar myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280558,Warsaw breakage syndrome,Cases/families,Case(s),,4.0,Worldwide
280558,Warsaw breakage syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3216,Conductive deafness-malformed external ear syndrome,Cases/families,Case(s),,8.0,Worldwide
3216,Conductive deafness-malformed external ear syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3218,Deafness-epiphyseal dysplasia-short stature syndrome,Cases/families,Case(s),,2.0,Worldwide
3218,Deafness-epiphyseal dysplasia-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
647,Nijmegen breakage syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
647,Nijmegen breakage syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
647,Nijmegen breakage syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.7,Russian Federation
647,Nijmegen breakage syndrome,Point prevalence,Value and class,1-9 / 1 000 000,3.1,Poland
647,Nijmegen breakage syndrome,Point prevalence,Value and class,1-9 / 1 000 000,3.1,Czech Republic
647,Nijmegen breakage syndrome,Point prevalence,Value and class,1-9 / 1 000 000,2.6,Slovakia
647,Nijmegen breakage syndrome,Point prevalence,Value and class,1-9 / 1 000 000,2.3,Belarus
647,Nijmegen breakage syndrome,Point prevalence,Value and class,1-9 / 1 000 000,1.3,Ukraine
280062,Calciphylaxis,Point prevalence,Class only,Unknown,0.0,Worldwide
279947,Postorgasmic illness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
279947,Postorgasmic illness syndrome,Cases/families,Case(s),,45.0,Worldwide
279943,Hereditary neutrophilia,Cases/families,Case(s),,16.0,Worldwide
279943,Hereditary neutrophilia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",Cases/families,Case(s),,100.0,Worldwide
3152,Sclerosteosis,Cases/families,Case(s),,80.0,Worldwide
3152,Sclerosteosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
279928,Paraneoplastic uveitis,Cases/families,Case(s),,10.0,Worldwide
279928,Paraneoplastic uveitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
279925,Infectious panuveitis,Point prevalence,Value and class,1-9 / 100 000,4.4,United States
279925,Infectious panuveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
279922,Infectious anterior uveitis,Point prevalence,Value and class,1-5 / 10 000,27.7,United States
279922,Infectious anterior uveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
280142,Combined immunodeficiency due to LCK deficiency,Cases/families,Case(s),,4.0,Worldwide
280142,Combined immunodeficiency due to LCK deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3164,"Omphalocele syndrome, Shprintzen-Goldberg type",Cases/families,Case(s),,5.0,Worldwide
3164,"Omphalocele syndrome, Shprintzen-Goldberg type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3168,Sillence syndrome,Cases/families,Case(s),,5.0,Worldwide
3168,Sillence syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280133,Complement component 3 deficiency,Cases/families,Case(s),,27.0,Worldwide
280133,Complement component 3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3163,SHORT syndrome,Cases/families,Case(s),,32.0,Worldwide
3163,SHORT syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1479,Atrial septal defect-atrioventricular conduction defects syndrome,Cases/families,Case(s),,11.0,Worldwide
1479,Atrial septal defect-atrioventricular conduction defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3156,Senior-Loken syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
280071,ALG11-CDG,Cases/families,Case(s),,8.0,Worldwide
280071,ALG11-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3157,Septo-optic dysplasia spectrum,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Europe
3157,Septo-optic dysplasia spectrum,Point prevalence,Class only,Unknown,0.0,Worldwide
3180,Spondylocamptodactyly syndrome,Cases/families,Case(s),,5.0,Worldwide
3180,Spondylocamptodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280210,"Pelizaeus-Merzbacher disease, connatal form",Point prevalence,Value and class,<1 / 1 000 000,0.03,Europe
280219,"Pelizaeus-Merzbacher disease, classic form",Point prevalence,Value and class,1-9 / 1 000 000,0.17,Europe
280200,Microform holoprosencephaly,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
3177,Spinocerebellar degeneration-corneal dystrophy syndrome,Cases/families,Case(s),,2.0,Worldwide
3177,Spinocerebellar degeneration-corneal dystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280205,Laryngotracheoesophageal cleft type 0,Point prevalence,Class only,Unknown,0.0,Worldwide
3175,X-linked spasticity-intellectual disability-epilepsy syndrome,Cases/families,Case(s),,6.0,Worldwide
3175,X-linked spasticity-intellectual disability-epilepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280195,Septopreoptic holoprosencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
3172,Eyebrow duplication-syndactyly syndrome,Cases/families,Case(s),,3.0,Worldwide
3172,Eyebrow duplication-syndactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280183,Methylmalonic aciduria due to transcobalamin receptor defect,Cases/families,Case(s),,5.0,Worldwide
280183,Methylmalonic aciduria due to transcobalamin receptor defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280282,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,Point prevalence,Class only,Unknown,0.0,Worldwide
280270,Pelizaeus-Merzbacher-like disease,Point prevalence,Class only,Unknown,0.0,Worldwide
280234,Null syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1855,Spondyloenchondrodysplasia,Cases/families,Case(s),,36.0,Worldwide
1855,Spondyloenchondrodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280224,"Pelizaeus-Merzbacher disease, transitional form",Point prevalence,Value and class,<1 / 1 000 000,0.03,Europe
1797,Autosomal dominant spondylocostal dysostosis,Point prevalence,Class only,Unknown,0.0,Worldwide
280229,Pelizaeus-Merzbacher disease in female carriers,Point prevalence,Class only,Unknown,0.0,Worldwide
276580,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
3258,Cenani-Lenz syndrome,Cases/families,Case(s),,30.0,Worldwide
3258,Cenani-Lenz syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276575,Autosomal dominant hyperinsulinism due to SUR1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
276598,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
3262,Dobrow syndrome,Cases/families,Case(s),,2.0,Worldwide
3262,Dobrow syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276608,Non-insulinoma pancreatogenous hypoglycemia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3265,Isolated humero-radial synostosis,Cases/families,Case(s),,150.0,Worldwide
3265,Isolated humero-radial synostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276603,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
3266,Isolated humero-radio-ulnar synostosis,Cases/families,Case(s),,30.0,Worldwide
3266,Isolated humero-radio-ulnar synostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276621,Sporadic pheochromocytoma/secreting paraganglioma,Point prevalence,Class only,Unknown,0.0,Worldwide
3268,Radioulnar synostosis-microcephaly-scoliosis syndrome,Cases/families,Case(s),,13.0,Worldwide
3268,Radioulnar synostosis-microcephaly-scoliosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276630,Symptomatic form of Coffin-Lowry syndrome in female carriers,Point prevalence,Class only,Unknown,0.0,Worldwide
3270,Radioulnar synostosis-developmental delay-hypotonia syndrome,Cases/families,Case(s),,4.0,Worldwide
3270,Radioulnar synostosis-developmental delay-hypotonia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3275,Spondylocarpotarsal synostosis,Cases/families,Case(s),,35.0,Worldwide
3275,Spondylocarpotarsal synostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
425,Apolipoprotein A-I deficiency,Cases/families,Family(ies),,30.0,Worldwide
425,Apolipoprotein A-I deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
425,Apolipoprotein A-I deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3291,Teebi-Shaltout syndrome,Cases/families,Case(s),,5.0,Worldwide
3291,Teebi-Shaltout syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3293,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,Cases/families,Case(s),,2.0,Worldwide
3293,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3292,Tel Hashomer camptodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
279882,Spasmus nutans,Point prevalence,Class only,Unknown,0.0,Worldwide
3294,Extensor tendons of finger anomalies,Cases/families,Case(s),,2.0,Worldwide
3294,Extensor tendons of finger anomalies,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
279888,Acute endophthalmitis,Point prevalence,Class only,Unknown,0.0,Worldwide
279891,Chronic endophthalmitis,Point prevalence,Class only,Unknown,0.0,Worldwide
279894,Toxic maculopathy due to antimalarial drugs,Point prevalence,Class only,Unknown,0.0,Worldwide
3301,Tetraamelia-multiple malformations syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3301,Tetraamelia-multiple malformations syndrome,Cases/families,Family(ies),,5.0,Worldwide
279897,Primary oculocerebral lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
279904,OBSOLETE: Primary intraocular lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
3304,Fallot complex-intellectual disability-growth delay syndrome,Cases/families,Case(s),,5.0,Worldwide
3304,Fallot complex-intellectual disability-growth delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3312,Thalidomide embryopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.77,Worldwide
279914,Intermediate uveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
279919,Infectious posterior uveitis,Point prevalence,Value and class,1-5 / 10 000,23.4,United States
279919,Infectious posterior uveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
276198,Spinocerebellar ataxia type 36,Cases/families,Family(ies),,100.0,Worldwide
276198,Spinocerebellar ataxia type 36,Point prevalence,Class only,Unknown,0.0,Worldwide
3225,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,Cases/families,Case(s),,2.0,Worldwide
3225,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276193,Spinocerebellar ataxia type 35,Cases/families,Case(s),,28.0,Worldwide
276193,Spinocerebellar ataxia type 35,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276183,Spinocerebellar ataxia type 32,Cases/families,Family(ies),,1.0,Worldwide
276183,Spinocerebellar ataxia type 32,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3224,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,Cases/families,Case(s),,2.0,Worldwide
3224,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276174,Idiopathic recurrent stupor,Point prevalence,Class only,Unknown,0.0,Worldwide
276238,Machado-Joseph disease type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
276234,Non-syndromic male infertility due to sperm motility disorder,Point prevalence,Class only,Unknown,0.0,Worldwide
3230,Deafness-oligodontia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3230,Deafness-oligodontia syndrome,Cases/families,Case(s),,5.0,Worldwide
3231,Deafness-onychodystrophy syndrome,Cases/families,Case(s),,50.0,Worldwide
3231,Deafness-onychodystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276244,Machado-Joseph disease type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
276241,Machado-Joseph disease type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
3235,Progressive deafness with stapes fixation,Point prevalence,Class only,Unknown,0.0,Worldwide
3236,Conductive deafness-ptosis-skeletal anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
3236,Conductive deafness-ptosis-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3232,Deafness-ear malformation-facial palsy syndrome,Cases/families,Case(s),,4.0,Worldwide
3232,Deafness-ear malformation-facial palsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3233,Cochleosaccular degeneration-cataract syndrome,Cases/families,Family(ies),,2.0,Worldwide
3233,Cochleosaccular degeneration-cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3241,Deafness-craniofacial syndrome,Cases/families,Case(s),,2.0,Worldwide
3241,Deafness-craniofacial syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276280,Hemihyperplasia-multiple lipomatosis syndrome,Cases/families,Case(s),,10.0,Worldwide
276280,Hemihyperplasia-multiple lipomatosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276399,Familial multinodular goiter,Point prevalence,Class only,Unknown,0.0,Worldwide
3239,Deafness-vitiligo-achalasia syndrome,Cases/families,Case(s),,2.0,Worldwide
3239,Deafness-vitiligo-achalasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3238,Cardiospondylocarpofacial syndrome,Cases/families,Case(s),,5.0,Worldwide
3238,Cardiospondylocarpofacial syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3237,Multiple synostoses syndrome,Cases/families,Family(ies),,30.0,Worldwide
3237,Multiple synostoses syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3246,Symphalangism with multiple anomalies of hands and feet,Cases/families,Case(s),,6.0,Worldwide
3246,Symphalangism with multiple anomalies of hands and feet,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276413,10q22.3q23.3 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3242,Renpenning syndrome,Cases/families,Case(s),,64.0,Worldwide
3242,Renpenning syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276405,Hyperbiliverdinemia,Cases/families,Case(s),,2.0,Worldwide
276405,Hyperbiliverdinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3250,Proximal symphalangism,Point prevalence,Class only,Unknown,0.0,Worldwide
3248,Isolated distal symphalangism,Cases/families,Family(ies),,8.0,Worldwide
3248,Isolated distal symphalangism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276422,10q22.3q23.3 microduplication syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
276429,Hypnic headache,Point prevalence,Class only,Unknown,0.0,Worldwide
3255,Filippi syndrome,Cases/families,Case(s),,29.0,Worldwide
3255,Filippi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276556,Hyperinsulinism due to UCP2 deficiency,Cases/families,Case(s),,2.0,Worldwide
276556,Hyperinsulinism due to UCP2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
276432,Ogden syndrome,Cases/families,Case(s),,8.0,Worldwide
276432,Ogden syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3253,Cleft lip/palate-ectodermal dysplasia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3253,Cleft lip/palate-ectodermal dysplasia syndrome,Cases/families,Case(s),,50.0,Worldwide
276435,Lower motor neuron syndrome with late-adult onset,Cases/families,Case(s),,55.0,Worldwide
276435,Lower motor neuron syndrome with late-adult onset,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
911,Combined immunodeficiency due to ZAP70 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
3325,Classic heparin-induced thrombocytopenia,Point prevalence,Class only,Unknown,0.0,Worldwide
746,Mitochondrial trifunctional protein deficiency,Cases/families,Case(s),,100.0,Worldwide
746,Mitochondrial trifunctional protein deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
746,Mitochondrial trifunctional protein deficiency,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
943,Malonic aciduria,Cases/families,Case(s),,34.0,Worldwide
943,Malonic aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
621,Autosomal recessive methemoglobinemia,Point prevalence,Class only,Unknown,0.0,Worldwide
2089,Glycogen storage disease due to hepatic glycogen synthase deficiency,Cases/families,Case(s),,16.0,Worldwide
2089,Glycogen storage disease due to hepatic glycogen synthase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412,Dysbetalipoproteinemia,Point prevalence,Value and class,1-9 / 100 000,7.8,Europe
412,Dysbetalipoproteinemia,Point prevalence,Value and class,1-5 / 10 000,10.0,Worldwide
743,Severe hereditary thrombophilia due to congenital protein S deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
743,Severe hereditary thrombophilia due to congenital protein S deficiency,Prevalence at birth,Class only,Unknown,0.0,Europe
424,Familial hyperthyroidism due to mutations in TSH receptor,Point prevalence,Class only,Unknown,0.0,Worldwide
424,Familial hyperthyroidism due to mutations in TSH receptor,Cases/families,Family(ies),,28.0,Worldwide
325,Congenital factor II deficiency,Point prevalence,Value and class,<1 / 1 000 000,0.05,Europe
343,Hyperimmunoglobulinemia D with periodic fever,Cases/families,Case(s),,200.0,Worldwide
343,Hyperimmunoglobulinemia D with periodic fever,Point prevalence,Class only,Unknown,0.0,Worldwide
572,Immunodeficiency by defective expression of MHC class II,Cases/families,Case(s),,179.0,Worldwide
572,Immunodeficiency by defective expression of MHC class II,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1930,Herpes simplex virus encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Worldwide
1930,Herpes simplex virus encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,United Kingdom
1930,Herpes simplex virus encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,United States
1930,Herpes simplex virus encephalitis,Point prevalence,Class only,Unknown,0.0,Europe
158,Systemic primary carnitine deficiency,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Europe
158,Systemic primary carnitine deficiency,Prevalence at birth,Value and class,1-9 / 100 000,3.2,United States
158,Systemic primary carnitine deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Japan
158,Systemic primary carnitine deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.83,Australia
158,Systemic primary carnitine deficiency,Point prevalence,Value and class,6-9 / 10 000,77.0,Faroe Islands
158,Systemic primary carnitine deficiency,Annual incidence,Value and class,>1 / 1000,138.9,Faroe Islands
158,Systemic primary carnitine deficiency,Point prevalence,Value and class,<1 / 1 000 000,0.0069,China
2056,Essential fructosuria,Point prevalence,Class only,Unknown,0.0,Worldwide
206436,Infantile Krabbe disease,Annual incidence,Value and class,1-9 / 1 000 000,0.254,United States
206436,Infantile Krabbe disease,Point prevalence,Class only,Unknown,0.0,Worldwide
820,Sneddon syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Europe
820,Sneddon syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
206428,Hypoxanthine-guanine phosphoribosyltransferase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
1945,Self-limited epilepsy with centrotemporal spikes,Point prevalence,Class only,Unknown,0.0,Worldwide
1945,Self-limited epilepsy with centrotemporal spikes,Annual incidence,Value and class,1-5 / 10 000,20.0,Sweden
832,Succinyl-CoA:3-oxoacid CoA transferase deficiency,Cases/families,Case(s),,32.0,Worldwide
832,Succinyl-CoA:3-oxoacid CoA transferase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
6,3-methylcrotonyl-CoA carboxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.65,Europe
6,3-methylcrotonyl-CoA carboxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.9,United States
6,3-methylcrotonyl-CoA carboxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Germany
6,3-methylcrotonyl-CoA carboxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.36,"Taiwan, Province of China"
6,3-methylcrotonyl-CoA carboxylase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
6,3-methylcrotonyl-CoA carboxylase deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
20,3-hydroxy-3-methylglutaric aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
20,3-hydroxy-3-methylglutaric aciduria,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Portugal
20,3-hydroxy-3-methylglutaric aciduria,Prevalence at birth,Class only,<1 / 1 000 000,0.0,United States
20,3-hydroxy-3-methylglutaric aciduria,Prevalence at birth,Class only,<1 / 1 000 000,0.0,China
712,Hemolytic anemia due to glucophosphate isomerase deficiency,Cases/families,Case(s),,50.0,Worldwide
712,Hemolytic anemia due to glucophosphate isomerase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2831,"Rhizomelic dysplasia, Patterson-Lowry type",Cases/families,Case(s),,5.0,Worldwide
2831,"Rhizomelic dysplasia, Patterson-Lowry type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1129,Arachnodactyly-abnormal ossification-intellectual disability syndrome,Cases/families,Case(s),,5.0,Worldwide
1129,Arachnodactyly-abnormal ossification-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
206546,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,Point prevalence,Class only,Unknown,0.0,Worldwide
1383,Cataract-deafness-hypogonadism syndrome,Cases/families,Case(s),,3.0,Worldwide
1383,Cataract-deafness-hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
206538,Malignant non-dysgerminomatous germ cell tumor of ovary,Point prevalence,Class only,Unknown,0.0,Worldwide
206554,Fukutin-related limb-girdle muscular dystrophy R13,Cases/families,Family(ies),,5.0,Worldwide
206554,Fukutin-related limb-girdle muscular dystrophy R13,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1524,Craniomicromelic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
206549,Anoctamin-5-related limb-girdle muscular dystrophy R12,Point prevalence,Class only,Unknown,0.0,Worldwide
1123,Caudal appendage-deafness syndrome,Cases/families,Case(s),,2.0,Worldwide
1123,Caudal appendage-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
206564,POMGNT1-related limb-girdle muscular dystrophy R15,Cases/families,Case(s),,2.0,Worldwide
206564,POMGNT1-related limb-girdle muscular dystrophy R15,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
206559,POMT2-related limb-girdle muscular dystrophy R14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
206559,POMT2-related limb-girdle muscular dystrophy R14,Cases/families,Case(s),,1.0,Worldwide
206572,Overlap myositis,Point prevalence,Class only,Unknown,0.0,Europe
206569,Immune-mediated necrotizing myopathy,Cases/families,Case(s),,300.0,Worldwide
206569,Immune-mediated necrotizing myopathy,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
206580,Autosomal recessive lower motor neuron disease with childhood onset,Cases/families,Case(s),,5.0,Worldwide
206580,Autosomal recessive lower motor neuron disease with childhood onset,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3439,Von Voss-Cherstvoy syndrome,Cases/families,Case(s),,10.0,Worldwide
3439,Von Voss-Cherstvoy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1217,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,Cases/families,Case(s),,2.0,Worldwide
1217,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2680,Hypomyelination neuropathy-arthrogryposis syndrome,Cases/families,Case(s),,9.0,Worldwide
2680,Hypomyelination neuropathy-arthrogryposis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1681,Diprosopus,Cases/families,Case(s),,33.0,Worldwide
1681,Diprosopus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1681,Diprosopus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Argentina
1655,Müllerian derivatives-lymphangiectasia-polydactyly syndrome,Cases/families,Case(s),,8.0,Worldwide
1655,Müllerian derivatives-lymphangiectasia-polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
633,Laron syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
633,Laron syndrome,Point prevalence,Value and class,1-9 / 100 000,4.86,China
478,Kallmann syndrome,Point prevalence,Value and class,1-9 / 100 000,3.75,Europe
478,Kallmann syndrome,Annual incidence,Value and class,1-9 / 100 000,5.0,France
478,Kallmann syndrome,Annual incidence,Value and class,1-9 / 100 000,2.1,Finland
478,Kallmann syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Specific population
822,Hereditary spherocytosis,Point prevalence,Value and class,1-5 / 10 000,50.0,Germany
822,Hereditary spherocytosis,Prevalence at birth,Value and class,1-5 / 10 000,20.0,United States
822,Hereditary spherocytosis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
910,Xeroderma pigmentosum,Point prevalence,Value and class,1-9 / 1 000 000,0.1,United States
910,Xeroderma pigmentosum,Point prevalence,Value and class,1-9 / 100 000,4.5,Japan
910,Xeroderma pigmentosum,Prevalence at birth,Value and class,1-9 / 1 000 000,0.23,Europe
910,Xeroderma pigmentosum,Prevalence at birth,Value and class,1-9 / 1 000 000,0.19,United Kingdom
910,Xeroderma pigmentosum,Prevalence at birth,Value and class,1-9 / 1 000 000,0.41,Netherlands
910,Xeroderma pigmentosum,Prevalence at birth,Value and class,1-9 / 1 000 000,0.16,Italy
910,Xeroderma pigmentosum,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,France
910,Xeroderma pigmentosum,Prevalence at birth,Value and class,1-9 / 1 000 000,0.18,Germany
910,Xeroderma pigmentosum,Annual incidence,Value and class,1-9 / 100 000,1.75,Libyan Arab Jamahiriya
229,Familial aortic dissection,Point prevalence,Class only,Unknown,0.0,Worldwide
229,Familial aortic dissection,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Worldwide
777,X-linked non-syndromic intellectual disability,Point prevalence,Class only,Unknown,0.0,Worldwide
766,Hemolytic anemia due to red cell pyruvate kinase deficiency,Point prevalence,Value and class,1-9 / 100 000,5.1,Specific population
766,Hemolytic anemia due to red cell pyruvate kinase deficiency,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
766,Hemolytic anemia due to red cell pyruvate kinase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.96,Specific population
28,Vitamin B12-responsive methylmalonic acidemia,Cases/families,Case(s),,192.0,Worldwide
28,Vitamin B12-responsive methylmalonic acidemia,Point prevalence,Class only,Unknown,0.0,Worldwide
206973,Congenital myotonia,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
206594,Subacute inflammatory demyelinating polyneuropathy,Point prevalence,Class only,Unknown,0.0,Worldwide
206599,Isolated asymptomatic elevation of creatine phosphokinase,Point prevalence,Class only,Unknown,0.0,Worldwide
3206,Stüve-Wiedemann syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3206,Stüve-Wiedemann syndrome,Cases/families,Case(s),,56.0,Worldwide
3206,Stüve-Wiedemann syndrome,Prevalence at birth,Value and class,1-5 / 10 000,20.0,United Arab Emirates
206583,Adult polyglucosan body disease,Cases/families,Case(s),,50.0,Worldwide
206583,Adult polyglucosan body disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65,Leber congenital amaurosis,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
65,Leber congenital amaurosis,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Worldwide
65,Leber congenital amaurosis,Point prevalence,Value and class,1-9 / 100 000,1.23,United States
65,Leber congenital amaurosis,Point prevalence,Value and class,1-9 / 100 000,2.5,Worldwide
321,Multiple osteochondromas,Point prevalence,Value and class,>1 / 1000,100.0,Specific population
321,Multiple osteochondromas,Point prevalence,Value and class,1-9 / 1 000 000,0.9,United Kingdom
321,Multiple osteochondromas,Point prevalence,Value and class,1-9 / 100 000,1.35,Netherlands
321,Multiple osteochondromas,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
321,Multiple osteochondromas,Point prevalence,Value and class,1-9 / 100 000,2.0,United States
206647,Myotonic dystrophy,Point prevalence,Value and class,>1 / 1000,189.0,Specific population
206647,Myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,6.7,Worldwide
206647,Myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,8.78,Europe
206647,Myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.1,Italy
206647,Myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,5.5,Japan
206647,Myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,8.4,Ireland
206647,Myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,13.3,Croatia
206647,Myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,11.6,New Zealand
206647,Myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,20.0,Finland
206647,Myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.22,Norway
206647,Myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,10.9,Spain
206647,Myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.0,United States
144,Lynch syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
110,Bardet-Biedl syndrome,Point prevalence,Value and class,1-9 / 100 000,7.4,Specific population
110,Bardet-Biedl syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
110,Bardet-Biedl syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.64,Tunisia
110,Bardet-Biedl syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,United States
3095,Atypical Rett syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
2326,Kallmann syndrome-heart disease syndrome,Cases/families,Case(s),,8.0,Worldwide
2326,Kallmann syndrome-heart disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1130,Arachnodactyly-intellectual disability-dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
1130,Arachnodactyly-intellectual disability-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3207,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
3207,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2058,Fryns-Smeets-Thiry syndrome,Cases/families,Case(s),,2.0,Worldwide
2058,Fryns-Smeets-Thiry syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2538,Microgastria-limb reduction defect syndrome,Cases/families,Case(s),,16.0,Worldwide
2538,Microgastria-limb reduction defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1192,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,Cases/families,Case(s),,2.0,Worldwide
1192,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2062,Progressive non-infectious anterior vertebral fusion,Cases/families,Case(s),,67.0,Worldwide
2062,Progressive non-infectious anterior vertebral fusion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2015,Cleft palate-short stature-vertebral anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
2015,Cleft palate-short stature-vertebral anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2427,Macrocephaly-short stature-paraplegia syndrome,Cases/families,Case(s),,2.0,Worldwide
2427,Macrocephaly-short stature-paraplegia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2898,X-linked intellectual disability-plagiocephaly syndrome,Cases/families,Case(s),,2.0,Worldwide
2898,X-linked intellectual disability-plagiocephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2349,Muscular pseudohypertrophy-hypothyroidism syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1423,Lethal recessive chondrodysplasia,Cases/families,Case(s),,4.0,Worldwide
1423,Lethal recessive chondrodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2183,Hydrocephalus-obesity-hypogonadism syndrome,Cases/families,Case(s),,2.0,Worldwide
2183,Hydrocephalus-obesity-hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1114,Aplasia cutis congenita,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
1114,Aplasia cutis congenita,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Worldwide
1114,Aplasia cutis congenita,Prevalence at birth,Value and class,1-9 / 100 000,7.69,Denmark
209004,Polyneuropathy associated with IgM monoclonal gammopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
209004,Polyneuropathy associated with IgM monoclonal gammopathy,Annual incidence,Class only,Unknown,0.0,Worldwide
1101,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
1101,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2184,Hydrocephaly-low insertion umbilicus syndrome,Cases/families,Case(s),,2.0,Worldwide
2184,Hydrocephaly-low insertion umbilicus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
208650,NLRP3-associated autoinflammatory disease,Point prevalence,Value and class,1-9 / 1 000 000,0.28,France
1779,Dysmorphism-cleft palate-loose skin syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1272,Aymé-Gripp syndrome,Cases/families,Case(s),,18.0,Worldwide
1272,Aymé-Gripp syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
208513,Spinocerebellar ataxia type 29,Cases/families,Case(s),,50.0,Worldwide
208513,Spinocerebellar ataxia type 29,Point prevalence,Class only,Unknown,0.0,Worldwide
1485,"Arthrogryposis-hyperkeratosis syndrome, lethal form",Cases/families,Case(s),,2.0,Worldwide
1485,"Arthrogryposis-hyperkeratosis syndrome, lethal form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3051,Nicolaides-Baraitser syndrome,Cases/families,Case(s),,61.0,Worldwide
3051,Nicolaides-Baraitser syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1134,Isolated arrhinia,Cases/families,Case(s),,20.0,Worldwide
1134,Isolated arrhinia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1768,Familial caudal dysgenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1768,Familial caudal dysgenesis,Cases/families,Case(s),,4.0,Worldwide
2204,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",Cases/families,Case(s),,2.0,Worldwide
2204,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2963,"Progeroid syndrome, Petty type",Cases/families,Case(s),,1.0,Worldwide
2963,"Progeroid syndrome, Petty type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2619,"Brachydactylous dwarfism, Mseleni type",Point prevalence,Class only,Unknown,0.0,Worldwide
1541,"Craniosynostosis, Boston type",Cases/families,Family(ies),,3.0,Worldwide
1541,"Craniosynostosis, Boston type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1415,Hardikar syndrome,Cases/families,Case(s),,5.0,Worldwide
1415,Hardikar syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209335,Autosomal dominant adult-onset proximal spinal muscular atrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Cases/families,Case(s),,37.0,Worldwide
3167,Siegler-Brewer-Carey syndrome,Cases/families,Case(s),,2.0,Worldwide
3167,Siegler-Brewer-Carey syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1277,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,Cases/families,Case(s),,2.0,Worldwide
1277,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2547,Microphthalmia-microtia-fetal akinesia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2547,Microphthalmia-microtia-fetal akinesia syndrome,Cases/families,Case(s),,2.0,Worldwide
1778,Facial dysmorphism-shawl scrotum-joint laxity syndrome,Cases/families,Case(s),,2.0,Worldwide
1778,Facial dysmorphism-shawl scrotum-joint laxity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3074,Intellectual disability-short stature-hypertelorism syndrome,Cases/families,Case(s),,6.0,Worldwide
3074,Intellectual disability-short stature-hypertelorism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1759,Thoraco-abdominal enteric duplication,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Worldwide
1759,Thoraco-abdominal enteric duplication,Point prevalence,Class only,Unknown,0.0,Worldwide
210110,Intermediate osteopetrosis,Point prevalence,Class only,Unknown,0.0,Worldwide
3405,Umbilical cord ulceration-intestinal atresia syndrome,Cases/families,Case(s),,66.0,Worldwide
3405,Umbilical cord ulceration-intestinal atresia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,Cases/families,Case(s),,17.0,Worldwide
210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1884,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,Cases/families,Case(s),,8.0,Worldwide
1884,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209981,IRIDA syndrome,Cases/families,Case(s),,75.0,Worldwide
209981,IRIDA syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1459,Celiac disease-epilepsy-cerebral calcification syndrome,Cases/families,Case(s),,170.0,Worldwide
1459,Celiac disease-epilepsy-cerebral calcification syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210133,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,Cases/families,Case(s),,11.0,Worldwide
210133,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210136,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,Cases/families,Case(s),,4.0,Worldwide
210136,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2582,Myalgia-eosinophilia syndrome associated with tryptophan,Point prevalence,Class only,Unknown,0.0,Worldwide
210122,Congenital alveolar capillary dysplasia,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Canada
210122,Congenital alveolar capillary dysplasia,Cases/families,Case(s),,40.0,Worldwide
210122,Congenital alveolar capillary dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210128,Urocanic aciduria,Cases/families,Case(s),,4.0,Worldwide
210128,Urocanic aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2254,Pontocerebellar hypoplasia type 1,Cases/families,Family(ies),,40.0,Worldwide
2254,Pontocerebellar hypoplasia type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209959,Phacoanaphylactic uveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
209964,Solitary rectal ulcer syndrome,Annual incidence,Value and class,1-9 / 100 000,1.0,Europe
209964,Solitary rectal ulcer syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
209951,Autosomal spastic paraplegia type 18,Cases/families,Case(s),,9.0,Worldwide
209951,Autosomal spastic paraplegia type 18,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209956,Idiopathic uveal effusion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
209973,Benign nocturnal alternating hemiplegia of childhood,Cases/families,Case(s),,12.0,Worldwide
209973,Benign nocturnal alternating hemiplegia of childhood,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209967,Episodic ataxia type 6,Cases/families,Case(s),,4.0,Worldwide
209967,Episodic ataxia type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209970,Episodic ataxia type 7,Cases/families,Case(s),,7.0,Worldwide
209970,Episodic ataxia type 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2795,Fowler urethral sphincter dysfunction syndrome,Cases/families,Case(s),,33.0,Worldwide
2795,Fowler urethral sphincter dysfunction syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209908,Isolated childhood apraxia of speech,Cases/families,Case(s),,22.0,Worldwide
209908,Isolated childhood apraxia of speech,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209905,Brain-lung-thyroid syndrome,Cases/families,Case(s),,100.0,Worldwide
209905,Brain-lung-thyroid syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209902,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,Cases/families,Case(s),,24.0,Worldwide
209902,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2666,Adult familial nephronophthisis-spastic quadriparesia syndrome,Cases/families,Case(s),,2.0,Worldwide
2666,Adult familial nephronophthisis-spastic quadriparesia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209943,IRVAN syndrome,Cases/families,Case(s),,30.0,Worldwide
209943,IRVAN syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209932,Cone dystrophy with supernormal rod response,Cases/families,Case(s),,45.0,Worldwide
209932,Cone dystrophy with supernormal rod response,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209919,Idiopathic copper-associated cirrhosis,Point prevalence,Class only,Unknown,0.0,Worldwide
209916,Extraskeletal myxoid chondrosarcoma,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
2519,Microcephaly-seizures-intellectual disability-heart disease syndrome,Cases/families,Case(s),,2.0,Worldwide
2519,Microcephaly-seizures-intellectual disability-heart disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209370,MECP2-related severe neonatal encephalopathy,Cases/families,Case(s),,30.0,Worldwide
209370,MECP2-related severe neonatal encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
209867,Autosomal dominant rhegmatogenous retinal detachment,Cases/families,Case(s),,38.0,Worldwide
209867,Autosomal dominant rhegmatogenous retinal detachment,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210571,Dystonia 16,Cases/families,Case(s),,12.0,Worldwide
210571,Dystonia 16,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3286,Catecholaminergic polymorphic ventricular tachycardia,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
210272,Mal de débarquement,Point prevalence,Class only,Unknown,0.0,Worldwide
210548,Macrocephaly-intellectual disability-autism syndrome,Cases/families,Case(s),,40.0,Worldwide
210548,Macrocephaly-intellectual disability-autism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210159,Adult hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,3.22,Europe
3283,His bundle tachycardia,Point prevalence,Class only,Unknown,0.0,Worldwide
210163,"Congenital lethal myopathy, Compton-North type",Cases/families,Case(s),,4.0,Worldwide
210163,"Congenital lethal myopathy, Compton-North type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3240,Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome,Cases/families,Case(s),,2.0,Worldwide
3240,Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210141,Inherited congenital spastic tetraplegia,Cases/families,Case(s),,17.0,Worldwide
210141,Inherited congenital spastic tetraplegia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
210144,"Lethal polymalformative syndrome, Boissel type",Cases/families,Case(s),,10.0,Worldwide
210144,"Lethal polymalformative syndrome, Boissel type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1546,Cryptococcosis,Annual incidence,Value and class,1-5 / 10 000,11.0,Europe
1546,Cryptococcosis,Point prevalence,Class only,Unknown,0.0,Worldwide
67,Amoebiasis due to Entamoeba histolytica,Point prevalence,Class only,Unknown,0.0,Worldwide
210584,Spindle cell hemangioma,Annual incidence,Class only,Unknown,0.0,Worldwide
210584,Spindle cell hemangioma,Point prevalence,Class only,Unknown,0.0,Worldwide
2023,Undifferentiated pleomorphic sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.9,Europe
2023,Undifferentiated pleomorphic sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.9,United States
2023,Undifferentiated pleomorphic sarcoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
416,Primary hyperoxaluria,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Germany
416,Primary hyperoxaluria,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
416,Primary hyperoxaluria,Annual incidence,Class only,<1 / 1 000 000,0.0,Worldwide
599,Distal myopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.33,United Kingdom
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Europe
3392,Tularemia,Annual incidence,Class only,<1 / 1 000 000,0.0,United Kingdom
3392,Tularemia,Annual incidence,Class only,<1 / 1 000 000,0.0,Netherlands
3392,Tularemia,Annual incidence,Value and class,1-9 / 100 000,4.0,Sweden
3392,Tularemia,Annual incidence,Value and class,1-9 / 100 000,1.27,Czech Republic
3392,Tularemia,Annual incidence,Value and class,1-9 / 100 000,9.1,Finland
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Austria
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.005,Belgium
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.05,Denmark
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Croatia
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Bulgaria
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.075,Estonia
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.08,France
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.02,Germany
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.035,Italy
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.145,Latvia
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.07,Lithuania
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.01,Poland
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.01,Romania
3392,Tularemia,Annual incidence,Value and class,<1 / 1 000 000,0.01,Slovenia
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Switzerland
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.75,Spain
3392,Tularemia,Annual incidence,Value and class,1-9 / 100 000,1.83,Norway
3392,Tularemia,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Hungary
3392,Tularemia,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Slovakia
1063,Tufted angioma,Cases/families,Case(s),,200.0,Worldwide
1063,Tufted angioma,Point prevalence,Class only,Unknown,0.0,Worldwide
2737,Onchocerciasis,Point prevalence,Class only,>1 / 1000,0.0,Specific population
2737,Onchocerciasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
211067,Episodic ataxia type 5,Cases/families,Case(s),,7.0,Worldwide
211067,Episodic ataxia type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3343,Toxocariasis,Annual incidence,Value and class,1-9 / 100 000,3.3,United States
3343,Toxocariasis,Point prevalence,Class only,Unknown,0.0,Worldwide
211062,Hereditary episodic ataxia,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
2034,Filariasis,Point prevalence,Class only,Unknown,0.0,Europe
2034,Filariasis,Point prevalence,Class only,>1 / 1000,0.0,Specific population
2583,Mycetoma,Point prevalence,Class only,Unknown,0.0,Worldwide
2583,Mycetoma,Point prevalence,Value and class,1-9 / 100 000,0.09,Sudan
2583,Mycetoma,Point prevalence,Value and class,1-9 / 100 000,0.2,Mauritania
1685,Distomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
211017,Spinocerebellar ataxia type 30,Cases/families,Case(s),,6.0,Worldwide
211017,Spinocerebellar ataxia type 30,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1902,Ehrlichiosis,Cases/families,Case(s),,50.0,Worldwide
1902,Ehrlichiosis,Annual incidence,Value and class,1-9 / 1 000 000,0.25,United States
1902,Ehrlichiosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
656,Hereditary steroid-resistant nephrotic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
655,Nephronophthisis,Prevalence at birth,Value and class,1-9 / 100 000,1.25,Finland
655,Nephronophthisis,Point prevalence,Class only,Unknown,0.0,Europe
2415,Isolated rare lymphatic malformation,Point prevalence,Value and class,1-5 / 10 000,12.5,Europe
2122,Kaposiform hemangioendothelioma,Point prevalence,Class only,Unknown,0.0,Worldwide
2591,Infantile myofibromatosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Europe
2591,Infantile myofibromatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
35,Propionic acidemia,Prevalence at birth,Value and class,>1 / 1000,100.0,Canada
35,Propionic acidemia,Annual incidence,Value and class,1-9 / 100 000,1.5,Worldwide
35,Propionic acidemia,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
35,Propionic acidemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Italy
35,Propionic acidemia,Prevalence at birth,Value and class,1-9 / 100 000,4.0,Germany
35,Propionic acidemia,Prevalence at birth,Value and class,1-5 / 10 000,33.0,Saudi Arabia
35,Propionic acidemia,Prevalence at birth,Value and class,1-9 / 100 000,5.7,Japan
35,Propionic acidemia,Prevalence at birth,Value and class,1-9 / 100 000,1.23,"Korea, Republic of"
35,Propionic acidemia,Point prevalence,Value and class,<1 / 1 000 000,0.0278,China
407,Glycine encephalopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.17,Europe
407,Glycine encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.8,Finland
407,Glycine encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.59,Canada
407,Glycine encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Saudi Arabia
407,Glycine encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Portugal
407,Glycine encephalopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Portugal
407,Glycine encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,3.8,Israel
407,Glycine encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Specific population
2968,Leukocyte adhesion deficiency,Cases/families,Case(s),,350.0,Worldwide
2968,Leukocyte adhesion deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Latin America
2968,Leukocyte adhesion deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
663,Mitochondrial DNA-related progressive external ophthalmoplegia,Point prevalence,Class only,Unknown,0.0,Worldwide
137,Congenital disorder of glycosylation,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Europe
137,Congenital disorder of glycosylation,Point prevalence,Class only,Unknown,0.0,Worldwide
220,Denys-Drash syndrome,Cases/families,Case(s),,300.0,Worldwide
220,Denys-Drash syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Australia
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,United States
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Germany
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Sweden
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.84,Poland
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.09,Estonia
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Point prevalence,Value and class,1-9 / 100 000,8.0,Europe
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Israel
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Specific population
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.24,Czech Republic
85,Congenital dyserythropoietic anemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.16,Europe
85,Congenital dyserythropoietic anemia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
85,Congenital dyserythropoietic anemia,Cases/families,Case(s),,740.0,Worldwide
85,Congenital dyserythropoietic anemia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
25,Glutaryl-CoA dehydrogenase deficiency,Point prevalence,Value and class,>1 / 1000,333.0,Specific population
25,Glutaryl-CoA dehydrogenase deficiency,Point prevalence,Value and class,1-9 / 100 000,2.0,Specific population
25,Glutaryl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
25,Glutaryl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.85,Spain
25,Glutaryl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.48,Japan
25,Glutaryl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.76,United States
25,Glutaryl-CoA dehydrogenase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
25,Glutaryl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Israel
25,Glutaryl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.3,Specific population
25,Glutaryl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.56,Czech Republic
177,Rhizomelic chondrodysplasia punctata,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
177,Rhizomelic chondrodysplasia punctata,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,United States
177,Rhizomelic chondrodysplasia punctata,Point prevalence,Class only,Unknown,0.0,Worldwide
1246,Brachydactyly-nystagmus-cerebellar ataxia syndrome,Cases/families,Family(ies),,1.0,Worldwide
1246,Brachydactyly-nystagmus-cerebellar ataxia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
618,Familial melanoma,Annual incidence,Value and class,1-9 / 100 000,1.5,Europe
618,Familial melanoma,Point prevalence,Class only,Unknown,0.0,Worldwide
359,Pediatric-onset glaucoma of genetic origin,Point prevalence,Class only,Unknown,0.0,Worldwide
213500,Rare ovarian cancer,Point prevalence,Value and class,1-5 / 10 000,49.0,Europe
818,Smith-Lemli-Opitz syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.7,Europe
818,Smith-Lemli-Opitz syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.7,United Kingdom
818,Smith-Lemli-Opitz syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.85,Slovakia
818,Smith-Lemli-Opitz syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.6,Canada
818,Smith-Lemli-Opitz syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.65,United States
818,Smith-Lemli-Opitz syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
818,Smith-Lemli-Opitz syndrome,Prevalence at birth,Class only,1-5 / 10 000,0.0,Czech Republic
818,Smith-Lemli-Opitz syndrome,Annual incidence,Value and class,1-9 / 100 000,1.4314,"Korea, Republic of"
213512,Malignant mixed Müllerian tumor of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Europe
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.97,Europe
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.635,Austria
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.773,Belgium
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.162,Bulgaria
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.103,Croatia
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,7.229,Czech Republic
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.881,Estonia
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.973,Finland
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.593,Germany
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,4.09,Iceland
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.079,Ireland
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.518,Italy
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,8.353,Latvia
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,7.79,Lithuania
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.653,Malta
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,7.116,Norway
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.698,Poland
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,2.834,Portugal
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.519,Slovakia
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.575,Slovenia
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,4.263,Spain
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.379,Switzerland
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,5.306,Netherlands
213504,Adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,6.09,United Kingdom
175,Cartilage-hair hypoplasia,Point prevalence,Value and class,>1 / 1000,150.0,Specific population
175,Cartilage-hair hypoplasia,Prevalence at birth,Value and class,1-9 / 100 000,4.34,Finland
175,Cartilage-hair hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
209,Cutis laxa,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Europe
209,Cutis laxa,Point prevalence,Class only,Unknown,0.0,Worldwide
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,12.0,Europe
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,16.1,Germany
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,7.25,United Kingdom
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,8.5,Portugal
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Spain
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,11.49,Netherlands
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.3,Canada
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,5.26,Australia
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.96,Japan
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,"Taiwan, Province of China"
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,11.1,Denmark
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,6.3,Greece
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,5.85,United States
42,Medium chain acyl-CoA dehydrogenase deficiency,Point prevalence,Value and class,1-9 / 100 000,6.85,Worldwide
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.02,Austria
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.35,Italy
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Israel
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Specific population
42,Medium chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.5,Czech Republic
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.05,Europe
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.038,Austria
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.095,Belgium
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.024,Bulgaria
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.014,Croatia
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.068,Czech Republic
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.024,Finland
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.077,Germany
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.037,Ireland
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.075,Italy
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.043,Latvia
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.017,Lithuania
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.031,Malta
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.06,Norway
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.013,Poland
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.039,Portugal
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.019,Slovakia
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.044,Slovenia
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.054,Spain
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.09,Switzerland
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.064,Netherlands
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.053,United Kingdom
213557,Salivary gland type cancer of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.323,Estonia
2066,Gamma-aminobutyric acid transaminase deficiency,Cases/families,Family(ies),,3.0,Worldwide
2066,Gamma-aminobutyric acid transaminase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.06,Europe
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.081,Austria
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.027,Bulgaria
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.059,Croatia
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.074,Estonia
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.065,Finland
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.096,Ireland
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.084,Italy
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.06,Latvia
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.031,Malta
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.045,Poland
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.082,Portugal
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.074,Slovakia
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,<1 / 1 000 000,0.07,United Kingdom
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.226,Belgium
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Czech Republic
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.136,Germany
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.108,Lithuania
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.104,Norway
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.163,Slovenia
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.128,Spain
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.135,Switzerland
213531,Metaplastic carcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.238,Netherlands
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,3.55,Europe
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 1 000 000,0.898,Lithuania
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.325,Austria
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.221,Belgium
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.397,Bulgaria
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.175,Croatia
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.717,Czech Republic
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,3.371,Estonia
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.615,Finland
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,3.812,Germany
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.428,Iceland
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.305,Ireland
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,4.103,Italy
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,1.191,Latvia
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.199,Malta
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,3.017,Norway
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,1.812,Poland
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,1.697,Portugal
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.171,Slovakia
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.315,Slovenia
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,2.142,Spain
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,3.187,Switzerland
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,3.264,Netherlands
213528,Rare adenocarcinoma of the breast,Annual incidence,Value and class,1-9 / 100 000,3.638,United Kingdom
3188,Congenital pulmonary veins atresia or stenosis,Point prevalence,Class only,Unknown,0.0,Worldwide
860,Congenitally uncorrected transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,25.0,Worldwide
860,Congenitally uncorrected transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,24.25,Europe
860,Congenitally uncorrected transposition of the great arteries,Point prevalence,Class only,Unknown,0.0,Worldwide
185,Scimitar syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
185,Scimitar syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,27.2,France
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,19.6,Austria
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,29.1,Belgium
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,14.6,Croatia
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,59.5,Denmark
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,6-9 / 10 000,63.6,Germany
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,6-9 / 10 000,63.1,Hungary
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Ireland
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,26.1,Italy
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,48.2,Malta
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-9 / 100 000,6.3,Netherlands
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,35.3,Norway
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Poland
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,23.7,Portugal
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,25.7,Spain
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,6-9 / 10 000,98.4,Switzerland
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,42.5,United Kingdom
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Value and class,1-5 / 10 000,19.4,Ukraine
3189,Congenital pulmonary valvar stenosis,Prevalence at birth,Class only,1-5 / 10 000,0.0,Europe
3189,Congenital pulmonary valvar stenosis,Point prevalence,Class only,Unknown,0.0,Europe
1464,Univentricular heart,Prevalence at birth,Value and class,1-9 / 100 000,7.5,Worldwide
1464,Univentricular heart,Point prevalence,Class only,Unknown,0.0,Worldwide
3400,Aorto-ventricular tunnel,Cases/families,Case(s),,130.0,Worldwide
3400,Aorto-ventricular tunnel,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Europe
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.039,Belgium
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.014,Croatia
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.012,Finland
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.044,Germany
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.083,Ireland
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.031,Malta
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.011,Norway
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.045,Portugal
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.034,Slovakia
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.019,Slovenia
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.039,Spain
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.056,Switzerland
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.018,Netherlands
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,<1 / 1 000 000,0.041,United Kingdom
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.117,Austria
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Bulgaria
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.177,Czech Republic
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.139,Estonia
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.113,Italy
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.173,Latvia
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.228,Lithuania
213716,Squamous cell carcinoma of the corpus uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.106,Poland
213746,Transitional cell carcinoma of the corpus uteri,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
3261,Autoimmune lymphoproliferative syndrome,Cases/families,Case(s),,500.0,Worldwide
3261,Autoimmune lymphoproliferative syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2849,Perlman syndrome,Cases/families,Case(s),,32.0,Worldwide
2849,Perlman syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.01,Europe
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.762,Austria
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.966,Belgium
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.968,Croatia
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.85,Estonia
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.899,Finland
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.987,Germany
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.789,Ireland
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.734,Italy
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.774,Latvia
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.471,Malta
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.766,Poland
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.868,Spain
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.738,Switzerland
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.765,Netherlands
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 1 000 000,0.918,United Kingdom
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.108,Bulgaria
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.108,Czech Republic
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.065,Iceland
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.118,Lithuania
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.177,Norway
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.007,Portugal
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.048,Slovakia
213772,Adenocarcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.12,Slovenia
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,4.28,Europe
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-5 / 10 000,11.822,Bulgaria
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-5 / 10 000,10.336,Estonia
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-5 / 10 000,11.192,Lithuania
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,4.104,Austria
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,4.67,Belgium
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,5.539,Croatia
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,8.277,Czech Republic
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.885,Finland
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,4.871,Germany
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,3.707,Iceland
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,4.204,Ireland
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,3.307,Italy
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,7.362,Latvia
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,1.759,Malta
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,4.756,Norway
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,7.941,Poland
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,5.478,Portugal
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,8.555,Slovakia
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,7.507,Slovenia
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,2.867,Spain
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,2.657,Switzerland
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,3.063,Netherlands
213767,Squamous cell carcinoma of the cervix uteri,Annual incidence,Value and class,1-9 / 100 000,3.312,United Kingdom
213792,Adenosarcoma of the cervix uteri,Annual incidence,Class only,<1 / 1 000 000,0.0,Worldwide
213787,Carcinosarcoma of the cervix uteri,Annual incidence,Class only,<1 / 1 000 000,0.0,Worldwide
213812,Primitive neuroectodermal tumor of the cervix uteri,Annual incidence,Class only,<1 / 1 000 000,0.0,Worldwide
747,Autoimmune pulmonary alveolar proteinosis,Annual incidence,Value and class,1-9 / 1 000 000,0.165,Japan
747,Autoimmune pulmonary alveolar proteinosis,Point prevalence,Value and class,1-9 / 1 000 000,2.66,Japan
747,Autoimmune pulmonary alveolar proteinosis,Point prevalence,Value and class,1-9 / 1 000 000,2.66,Worldwide
747,Autoimmune pulmonary alveolar proteinosis,Point prevalence,Value and class,1-9 / 1 000 000,0.687,United States
213807,Leiomyosarcoma of the cervix uteri,Annual incidence,Class only,<1 / 1 000 000,0.0,Worldwide
2953,Musculocontractural Ehlers-Danlos syndrome,Cases/families,Case(s),,34.0,Worldwide
2953,Musculocontractural Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3082,Intellectual disability-polydactyly-uncombable hair syndrome,Cases/families,Case(s),,2.0,Worldwide
3082,Intellectual disability-polydactyly-uncombable hair syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
782,Axenfeld-Rieger syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
3269,Isolated radio-ulnar synostosis,Cases/families,Case(s),,350.0,Worldwide
3269,Isolated radio-ulnar synostosis,Point prevalence,Class only,Unknown,0.0,Worldwide
3259,Syndactyly-polydactyly-ear lobe syndrome,Cases/families,Case(s),,10.0,Worldwide
3259,Syndactyly-polydactyly-ear lobe syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3309,Tetrasomy 5p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,31.7,Europe
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,50.0,United States
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,23.3,Belgium
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,59.5,Denmark
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,33.4,France
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,47.5,Germany
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,28.8,Hungary
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,18.1,Ireland
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,22.6,Italy
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,40.9,Netherlands
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,31.1,Norway
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,14.0,Poland
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-9 / 100 000,4.7,Portugal
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,15.7,Spain
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,37.7,Switzerland
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,33.9,United Kingdom
216675,Transposition of the great arteries,Prevalence at birth,Value and class,1-5 / 10 000,22.3,Ukraine
216675,Transposition of the great arteries,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
216694,Congenitally corrected transposition of the great arteries,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Worldwide
216694,Congenitally corrected transposition of the great arteries,Point prevalence,Class only,Unknown,0.0,Worldwide
216718,Isolated congenitally uncorrected transposition of the great arteries,Point prevalence,Class only,Unknown,0.0,Worldwide
216729,Congenitally uncorrected transposition of the great arteries with cardiac malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
3411,Double uterus-hemivagina-renal agenesis syndrome,Cases/families,Case(s),,60.0,Worldwide
3411,Double uterus-hemivagina-renal agenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
882,Tyrosinemia type 1,Prevalence at birth,Value and class,1-9 / 1 000 000,0.9,Worldwide
882,Tyrosinemia type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Norway
882,Tyrosinemia type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Finland
882,Tyrosinemia type 1,Prevalence at birth,Value and class,1-9 / 100 000,6.7,Tunisia
882,Tyrosinemia type 1,Prevalence at birth,Value and class,1-9 / 100 000,6.25,Specific population
882,Tyrosinemia type 1,Prevalence at birth,Value and class,1-5 / 10 000,54.0,Specific population
882,Tyrosinemia type 1,Point prevalence,Class only,Unknown,0.0,Europe
216796,Osteogenesis imperfecta type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
216796,Osteogenesis imperfecta type 1,Prevalence at birth,Value and class,1-9 / 100 000,5.16,Sweden
903,Von Willebrand disease,Point prevalence,Value and class,1-5 / 10 000,10.0,Worldwide
216804,Osteogenesis imperfecta type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
216812,Osteogenesis imperfecta type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
216812,Osteogenesis imperfecta type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.89,Sweden
216820,Osteogenesis imperfecta type 4,Point prevalence,Class only,Unknown,0.0,Worldwide
216820,Osteogenesis imperfecta type 4,Prevalence at birth,Value and class,1-9 / 100 000,1.35,Sweden
216828,Osteogenesis imperfecta type 5,Cases/families,Case(s),,47.0,Worldwide
216828,Osteogenesis imperfecta type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3474,CHIME syndrome,Cases/families,Case(s),,8.0,Worldwide
3474,CHIME syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1441,Ring chromosome 17 syndrome,Cases/families,Case(s),,18.0,Worldwide
1441,Ring chromosome 17 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
216978,"Niemann-Pick disease type C, late infantile neurologic onset",Point prevalence,Class only,Unknown,0.0,Worldwide
361,Familial glucocorticoid deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.4953,Ireland
361,Familial glucocorticoid deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
216975,"Niemann-Pick disease type C, severe early infantile neurologic onset",Point prevalence,Class only,Unknown,0.0,Worldwide
1787,"Acrofacial dysostosis, Palagonia type",Cases/families,Case(s),,4.0,Worldwide
1787,"Acrofacial dysostosis, Palagonia type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
216981,"Niemann-Pick disease type C, juvenile neurologic onset",Point prevalence,Class only,Unknown,0.0,Worldwide
217008,Segmental venous malformation,Cases/families,Case(s),,40.0,Worldwide
217008,Segmental venous malformation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217017,Zechi-Ceide syndrome,Cases/families,Case(s),,3.0,Worldwide
217017,Zechi-Ceide syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217012,Spinocerebellar ataxia type 31,Cases/families,Family(ies),,30.0,Worldwide
217012,Spinocerebellar ataxia type 31,Point prevalence,Class only,Unknown,0.0,Worldwide
2088,Fanconi-Bickel syndrome,Cases/families,Case(s),,200.0,Worldwide
2088,Fanconi-Bickel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2088,Fanconi-Bickel syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Israel
2088,Fanconi-Bickel syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Specific population
217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",Cases/families,Case(s),,5.0,Worldwide
217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217266,BNAR syndrome,Cases/families,Family(ies),,9.0,Worldwide
217266,BNAR syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
179,Birdshot chorioretinopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.35,Worldwide
179,Birdshot chorioretinopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.14,United States
217260,Progressive multifocal leukoencephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
217260,Progressive multifocal leukoencephalopathy,Annual incidence,Value and class,<1 / 1 000 000,0.068,Sweden
217260,Progressive multifocal leukoencephalopathy,Annual incidence,Value and class,1-9 / 1 000 000,0.11,France
292,Congenital enterovirus infection,Point prevalence,Class only,Unknown,0.0,Worldwide
217253,NMDA receptor encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
767,Polyarteritis nodosa,Point prevalence,Value and class,1-9 / 100 000,3.16,Europe
767,Polyarteritis nodosa,Point prevalence,Value and class,1-9 / 100 000,3.1,Sweden
767,Polyarteritis nodosa,Annual incidence,Value and class,1-9 / 1 000 000,0.9,United Kingdom
767,Polyarteritis nodosa,Point prevalence,Value and class,1-9 / 100 000,3.07,France
767,Polyarteritis nodosa,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Australia
767,Polyarteritis nodosa,Annual incidence,Value and class,1-9 / 1 000 000,0.62,Spain
767,Polyarteritis nodosa,Point prevalence,Value and class,1-9 / 100 000,3.3,Norway
767,Polyarteritis nodosa,Annual incidence,Value and class,<1 / 1 000 000,0.05,Norway
767,Polyarteritis nodosa,Annual incidence,Value and class,<1 / 1 000 000,0.04,Germany
2584,Classic mycosis fungoides,Annual incidence,Value and class,1-9 / 1 000 000,0.58,United States
2584,Classic mycosis fungoides,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Europe
2584,Classic mycosis fungoides,Point prevalence,Class only,Unknown,0.0,Worldwide
217093,"Mucopolysaccharidosis type 2, attenuated form",Point prevalence,Class only,Unknown,0.0,Worldwide
3162,Sézary syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.02,United States
3162,Sézary syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.012,Norway
3162,Sézary syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
217085,"Mucopolysaccharidosis type 2, severe form",Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
217085,"Mucopolysaccharidosis type 2, severe form",Point prevalence,Class only,Unknown,0.0,Worldwide
217080,Pulmonary fungal infections in patients deemed at risk,Point prevalence,Value and class,1-5 / 10 000,22.0,Europe
217074,Rare carcinoma of pancreas,Annual incidence,Value and class,1-5 / 10 000,11.79,Europe
217074,Rare carcinoma of pancreas,Lifetime Prevalence,Value and class,1-9 / 100 000,8.3,Europe
217074,Rare carcinoma of pancreas,Point prevalence,Value and class,1-5 / 10 000,15.5,Europe
217074,Rare carcinoma of pancreas,Annual incidence,Value and class,1-9 / 100 000,3.9,Worldwide
217074,Rare carcinoma of pancreas,Point prevalence,Value and class,1-9 / 100 000,3.5,Worldwide
2330,Kasabach-Merritt phenomenon,Cases/families,Case(s),,300.0,Worldwide
2330,Kasabach-Merritt phenomenon,Point prevalence,Class only,Unknown,0.0,Worldwide
217071,Renal cell carcinoma,Point prevalence,Value and class,1-5 / 10 000,42.0,Europe
217071,Renal cell carcinoma,Annual incidence,Value and class,1-9 / 100 000,8.35,Europe
217067,Pouchitis,Point prevalence,Value and class,1-5 / 10 000,22.0,Europe
2700,Noma,Point prevalence,Class only,Unknown,0.0,Worldwide
217064,5-fluorouracil poisoning,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
1451,CINCA syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
217059,Isolated nail clubbing,Point prevalence,Class only,Unknown,0.0,Worldwide
217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Cases/families,Family(ies),,8.0,Worldwide
217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
556,Malakoplakia,Point prevalence,Class only,Unknown,0.0,Worldwide
217335,RIN2 syndrome,Cases/families,Case(s),,10.0,Worldwide
217335,RIN2 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2745,Opitz GBBB syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
217340,17q21.31 microduplication syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
3260,Idiopathic hypereosinophilic syndrome,Point prevalence,Class only,Unknown,0.0,Europe
217330,REN-related autosomal dominant tubulointerstitial kidney disease,Cases/families,Family(ies),,35.0,Worldwide
217330,REN-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2086,Optic pathway glioma,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Worldwide
2086,Optic pathway glioma,Point prevalence,Class only,Unknown,0.0,Europe
2566,Chronic Epstein-Barr virus infection syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3385,African trypanosomiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
1560,Cysticercosis,Point prevalence,Class only,Unknown,0.0,Worldwide
566,Congenital microcoria,Point prevalence,Class only,Unknown,0.0,Worldwide
341,Viral hemorrhagic fever,Point prevalence,Class only,Unknown,0.0,Worldwide
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.74,Europe
340,Hemorrhagic fever-renal syndrome,Point prevalence,Value and class,1-5 / 10 000,37.0,Europe
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.92,Austria
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.78,Belgium
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.06,Bulgaria
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 100 000,2.2,Croatia
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.08,Czech Republic
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 100 000,1.36,Estonia
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-5 / 10 000,29.16,Finland
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.18,France
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 100 000,1.16,Germany
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.08,Hungary
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Latvia
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 100 000,1.44,Luxembourg
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.02,Poland
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.02,Romania
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Slovakia
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 100 000,2.32,Slovenia
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 100 000,2.52,Sweden
340,Hemorrhagic fever-renal syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Norway
2552,Microsporidiosis,Point prevalence,Class only,Unknown,0.0,Worldwide
1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Cases/families,Case(s),,10.0,Worldwide
1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217560,Neuroendocrine cell hyperplasia of infancy,Point prevalence,Class only,Unknown,0.0,Worldwide
217557,Pulmonary interstitial glycogenosis,Point prevalence,Class only,Unknown,0.0,Worldwide
1686,Cardiac diverticulum,Point prevalence,Class only,Unknown,0.0,Worldwide
217563,Neonatal acute respiratory distress syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
217563,Neonatal acute respiratory distress syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.067,Worldwide
217407,Hereditary hypotrichosis with recurrent skin vesicles,Cases/families,Case(s),,4.0,Worldwide
217407,Hereditary hypotrichosis with recurrent skin vesicles,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1456,Middle aortic syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.17,Europe
1456,Middle aortic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,35.6,Europe
1457,Coarctation of aorta,Prevalence at birth,Value and class,6-9 / 10 000,78.5,Austria
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,43.7,Belgium
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,22.7,Croatia
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Denmark
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,27.5,France
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,59.4,Germany
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,31.0,Hungary
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,32.5,Ireland
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,39.6,Italy
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,24.9,Malta
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,11.7,Netherlands
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Norway
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Poland
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-9 / 100 000,9.5,Portugal
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,16.9,Spain
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,25.1,Switzerland
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,40.1,United Kingdom
1457,Coarctation of aorta,Prevalence at birth,Value and class,1-5 / 10 000,38.1,Ukraine
1457,Coarctation of aorta,Point prevalence,Class only,Unknown,0.0,Worldwide
217390,Combined immunodeficiency due to DOCK8 deficiency,Cases/families,Case(s),,11.0,Worldwide
217390,Combined immunodeficiency due to DOCK8 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1132,Aortic arch defects,Point prevalence,Class only,Unknown,0.0,Worldwide
217385,17p13.3 microduplication syndrome,Cases/families,Case(s),,50.0,Worldwide
217385,17p13.3 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1207,Pulmonary atresia with ventricular septal defect,Prevalence at birth,Value and class,1-5 / 10 000,30.0,Worldwide
1207,Pulmonary atresia with ventricular septal defect,Point prevalence,Class only,Unknown,0.0,Worldwide
217399,Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation,Cases/families,Case(s),,2.0,Worldwide
217399,Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217396,Progressive polyneuropathy with bilateral striatal necrosis,Cases/families,Case(s),,4.0,Worldwide
217396,Progressive polyneuropathy with bilateral striatal necrosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
982,Pulmonary valve agenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,Cases/families,Case(s),,32.0,Worldwide
217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217346,19q13.11 microdeletion syndrome,Cases/families,Case(s),,12.0,Worldwide
217346,19q13.11 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
980,Absence of the pulmonary artery,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Europe
980,Absence of the pulmonary artery,Point prevalence,Class only,Unknown,0.0,Worldwide
217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,Cases/families,Case(s),,3.0,Worldwide
217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1054,Aneurysm of sinus of Valsalva,Point prevalence,Class only,Unknown,0.0,Worldwide
217377,Microduplication Xp11.22p11.23 syndrome,Cases/families,Case(s),,12.0,Worldwide
217377,Microduplication Xp11.22p11.23 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217622,Sensorineural deafness with dilated cardiomyopathy,Cases/families,Family(ies),,2.0,Worldwide
217622,Sensorineural deafness with dilated cardiomyopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3092,Fixed subaortic stenosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2299,Aortic arch interruption,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Europe
2299,Aortic arch interruption,Point prevalence,Class only,Unknown,0.0,Europe
3427,Double outlet left ventricle,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Worldwide
3427,Double outlet left ventricle,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
3426,Double outlet right ventricle,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Germany
3426,Double outlet right ventricle,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
439,Isolated right ventricular hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
422,Idiopathic/heritable pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.11,United States
422,Idiopathic/heritable pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 1 000 000,0.65,France
422,Idiopathic/heritable pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.1,France
422,Idiopathic/heritable pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.4,Czech Republic
422,Idiopathic/heritable pulmonary arterial hypertension,Annual incidence,Value and class,1-9 / 1 000 000,0.62,Czech Republic
422,Idiopathic/heritable pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
422,Idiopathic/heritable pulmonary arterial hypertension,Point prevalence,Value and class,1-9 / 100 000,6.25,China
2038,Pulmonary arteriovenous malformation,Annual incidence,Value and class,1-9 / 100 000,2.5,Worldwide
2038,Pulmonary arteriovenous malformation,Point prevalence,Class only,Unknown,0.0,Europe
2037,Congenital aortopulmonary window,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Worldwide
2037,Congenital aortopulmonary window,Point prevalence,Class only,Unknown,0.0,Worldwide
2041,Coronary arterial fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
282,Frontotemporal dementia,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
282,Frontotemporal dementia,Annual incidence,Value and class,1-9 / 100 000,3.05,Italy
331,Congenital factor XIII deficiency,Annual incidence,Value and class,<1 / 1 000 000,0.04,Europe
331,Congenital factor XIII deficiency,Point prevalence,Value and class,<1 / 1 000 000,0.05,Europe
159,Carnitine-acylcarnitine translocase deficiency,Cases/families,Case(s),,60.0,Worldwide
159,Carnitine-acylcarnitine translocase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
542,Primary cutaneous lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.75,Europe
542,Primary cutaneous lymphoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
707,Plague,Point prevalence,Class only,Unknown,0.0,Worldwide
707,Plague,Annual incidence,Value and class,1-9 / 100 000,2.2,Europe
707,Plague,Cases/families,Case(s),,237.0,Africa
707,Plague,Cases/families,Case(s),,6.0,Latin America
707,Plague,Cases/families,Case(s),,2.0,South East Asia
335,Congenital fibrinogen deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Europe
79,Congenital alpha2-antiplasmin deficiency,Cases/families,Case(s),,40.0,Worldwide
79,Congenital alpha2-antiplasmin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
217656,Inherited isolated arrhythmogenic cardiomyopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
1070,Anisakiasis,Annual incidence,Value and class,1-9 / 100 000,1.6,Japan
1070,Anisakiasis,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Worldwide
1070,Anisakiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
1467,Cogan syndrome,Cases/families,Case(s),,300.0,Worldwide
1467,Cogan syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Worldwide
2157,Histidinemia,Prevalence at birth,Value and class,1-9 / 100 000,2.7,Sweden
2157,Histidinemia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2157,Histidinemia,Prevalence at birth,Value and class,1-9 / 100 000,8.3,United States
2157,Histidinemia,Prevalence at birth,Value and class,1-5 / 10 000,11.9,Japan
3124,Saccharopinuria,Point prevalence,Class only,Unknown,0.0,Worldwide
220407,Limited systemic sclerosis,Cases/families,Case(s),,200.0,Worldwide
220407,Limited systemic sclerosis,Point prevalence,Class only,Unknown,0.0,Worldwide
220386,Semilobar holoprosencephaly,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
2203,Hyperlysinemia,Point prevalence,Class only,Unknown,0.0,Worldwide
220393,Diffuse cutaneous systemic sclerosis,Point prevalence,Value and class,1-9 / 100 000,3.8,"Taiwan, Province of China"
220393,Diffuse cutaneous systemic sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.5,"Taiwan, Province of China"
332,Congenital intrinsic factor deficiency,Cases/families,Case(s),,100.0,Worldwide
332,Congenital intrinsic factor deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
220448,Macrothrombocytopenia with mitral valve insufficiency,Cases/families,Case(s),,2.0,Worldwide
220448,Macrothrombocytopenia with mitral valve insufficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2967,Transcobalamin I deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
220436,Quebec platelet disorder,Point prevalence,Value and class,1-9 / 1 000 000,0.45,Specific population
220436,Quebec platelet disorder,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Canada
2195,Dicarboxylic aminoaciduria,Point prevalence,Class only,Unknown,0.0,Specific population
2195,Dicarboxylic aminoaciduria,Prevalence at birth,Value and class,1-9 / 100 000,2.76,Specific population
2170,Methylcobalamin deficiency type cblG,Cases/families,Case(s),,33.0,Worldwide
2170,Methylcobalamin deficiency type cblG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
220295,Xeroderma pigmentosum-Cockayne syndrome complex,Cases/families,Case(s),,30.0,Worldwide
220295,Xeroderma pigmentosum-Cockayne syndrome complex,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
414,Gyrate atrophy of choroid and retina,Point prevalence,Value and class,1-9 / 100 000,2.0,Finland
414,Gyrate atrophy of choroid and retina,Cases/families,Case(s),,200.0,Worldwide
414,Gyrate atrophy of choroid and retina,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
622,Homocystinuria without methylmalonic aciduria,Cases/families,Case(s),,73.0,Worldwide
622,Homocystinuria without methylmalonic aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
927,Hyperammonemia due to N-acetylglutamate synthase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
927,Hyperammonemia due to N-acetylglutamate synthase deficiency,Cases/families,Case(s),,99.0,Worldwide
2880,Phosphoenolpyruvate carboxykinase deficiency,Cases/families,Case(s),,10.0,Worldwide
2880,Phosphoenolpyruvate carboxykinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
941,D-glyceric aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
220465,Laron syndrome with immunodeficiency,Cases/families,Case(s),,10.0,Worldwide
220465,Laron syndrome with immunodeficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
220489,Rare hereditary hemochromatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
19,2-hydroxyglutaric aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
2843,Pentosuria,Point prevalence,Class only,Unknown,0.0,Worldwide
220497,Joubert syndrome with renal defect,Point prevalence,Class only,Unknown,0.0,Worldwide
212,Cystathioninuria,Prevalence at birth,Value and class,1-9 / 100 000,7.1,Canada
212,Cystathioninuria,Point prevalence,Value and class,1-9 / 100 000,7.1,Canada
212,Cystathioninuria,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
220493,Joubert syndrome with ocular defect,Point prevalence,Class only,Unknown,0.0,Worldwide
470,Lysinuric protein intolerance,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
470,Lysinuric protein intolerance,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Italy
470,Lysinuric protein intolerance,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Finland
470,Lysinuric protein intolerance,Prevalence at birth,Value and class,1-9 / 100 000,1.75,Japan
470,Lysinuric protein intolerance,Point prevalence,Class only,Unknown,0.0,Worldwide
221074,Marchiafava-Bignami disease,Cases/families,Case(s),,250.0,Worldwide
221074,Marchiafava-Bignami disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
145,Hereditary breast and/or ovarian cancer syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2965,Prolactinoma,Point prevalence,Value and class,1-5 / 10 000,44.4,United Kingdom
2965,Prolactinoma,Point prevalence,Value and class,6-9 / 10 000,62.0,Belgium
2965,Prolactinoma,Point prevalence,Value and class,1-5 / 10 000,45.7,Switzerland
2965,Prolactinoma,Annual incidence,Value and class,1-9 / 100 000,2.05,Malta
2965,Prolactinoma,Point prevalence,Value and class,1-5 / 10 000,50.7,Europe
221083,Hemifacial spasm,Point prevalence,Value and class,1-5 / 10 000,10.95,Worldwide
221091,Trigeminal neuralgia,Point prevalence,Class only,Unknown,0.0,Worldwide
221091,Trigeminal neuralgia,Annual incidence,Value and class,1-9 / 100 000,4.3,United States
221091,Trigeminal neuralgia,Annual incidence,Value and class,1-9 / 100 000,8.0,United Kingdom
538,Lymphangioleiomyomatosis,Annual incidence,Value and class,<1 / 1 000 000,0.0135,Worldwide
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Worldwide
538,Lymphangioleiomyomatosis,Annual incidence,Value and class,<1 / 1 000 000,0.015,United States
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.17,United States
538,Lymphangioleiomyomatosis,Annual incidence,Value and class,<1 / 1 000 000,0.01,France
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.19,Germany
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.21,Canada
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.25,United Kingdom
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.32,Switzerland
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.39,New Zealand
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.26,Australia
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Europe
538,Lymphangioleiomyomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Netherlands
221098,Glossopharyngeal neuralgia,Point prevalence,Class only,Unknown,0.0,Worldwide
221098,Glossopharyngeal neuralgia,Annual incidence,Value and class,1-9 / 1 000 000,0.7,United States
2942,Postpoliomyelitis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1578,Pterin-4 alpha-carbinolamine dehydratase deficiency,Cases/families,Case(s),,21.0,Worldwide
1578,Pterin-4 alpha-carbinolamine dehydratase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
3208,Isolated succinate-CoQ reductase deficiency,Cases/families,Case(s),,37.0,Worldwide
3208,Isolated succinate-CoQ reductase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221008,Rothmund-Thomson syndrome type 1,Cases/families,Case(s),,100.0,Worldwide
221008,Rothmund-Thomson syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
24,Fumaric aciduria,Cases/families,Case(s),,40.0,Worldwide
24,Fumaric aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221016,Rothmund-Thomson syndrome type 2,Cases/families,Case(s),,200.0,Worldwide
221016,Rothmund-Thomson syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221039,"Hereditary sclerosing poikiloderma, Weary type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221039,"Hereditary sclerosing poikiloderma, Weary type",Cases/families,Case(s),,9.0,Worldwide
851,Paris-Trousseau thrombocytopenia,Cases/families,Case(s),,50.0,Worldwide
851,Paris-Trousseau thrombocytopenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,Cases/families,Case(s),,15.0,Worldwide
221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221046,Poikiloderma with neutropenia,Cases/families,Case(s),,50.0,Worldwide
221046,Poikiloderma with neutropenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
745,Severe hereditary thrombophilia due to congenital protein C deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.16,Worldwide
745,Severe hereditary thrombophilia due to congenital protein C deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
221054,Acrocephalopolydactyly,Cases/families,Case(s),,8.0,Worldwide
221054,Acrocephalopolydactyly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221061,Familial cerebral cavernous malformation,Point prevalence,Value and class,1-5 / 10 000,15.0,Worldwide
849,Glanzmann thrombasthenia,Point prevalence,Class only,Unknown,0.0,Worldwide
225154,Familial infantile bilateral striatal necrosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
225123,TFR2-related hemochromatosis,Cases/families,Case(s),,33.0,Worldwide
225123,TFR2-related hemochromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
225147,Sporadic infantile bilateral striatal necrosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
223727,Bone sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.8,Europe
223727,Bone sarcoma,Point prevalence,Value and class,1-9 / 100 000,9.29,Europe
221120,Pseudoaminopterin syndrome,Cases/families,Case(s),,11.0,Worldwide
221120,Pseudoaminopterin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221126,Fowler vasculopathy,Cases/families,Case(s),,44.0,Worldwide
221126,Fowler vasculopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221139,Combined immunodeficiency with facio-oculo-skeletal anomalies,Cases/families,Case(s),,2.0,Worldwide
221139,Combined immunodeficiency with facio-oculo-skeletal anomalies,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221142,Confetti-like macular atrophy,Cases/families,Case(s),,2.0,Worldwide
221142,Confetti-like macular atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",Cases/families,Case(s),,21.0,Worldwide
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228003,Severe combined immunodeficiency due to CORO1A deficiency,Cases/families,Case(s),,9.0,Worldwide
228003,Severe combined immunodeficiency due to CORO1A deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3398,Thymic epithelial neoplasm,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Europe
3398,Thymic epithelial neoplasm,Annual incidence,Value and class,1-9 / 100 000,1.3,United States
3398,Thymic epithelial neoplasm,Point prevalence,Class only,Unknown,0.0,Europe
228000,Idiopathic CD4 lymphocytopenia,Point prevalence,Class only,Unknown,0.0,Worldwide
547,Non-Hodgkin lymphoma,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
547,Non-Hodgkin lymphoma,Annual incidence,Value and class,1-5 / 10 000,11.6,Europe
842,Testicular seminomatous germ cell tumor,Annual incidence,Value and class,1-9 / 100 000,1.71,Europe
842,Testicular seminomatous germ cell tumor,Lifetime Prevalence,Value and class,1-5 / 10 000,46.01,Europe
842,Testicular seminomatous germ cell tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
227976,"Autosomal recessive optic atrophy, OPA7 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
227976,"Autosomal recessive optic atrophy, OPA7 type",Cases/families,Case(s),,17.0,Worldwide
876,Yolk sac tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
876,Yolk sac tumor,Annual incidence,Class only,Unknown,0.0,Worldwide
227972,Toxic oil syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
227972,Toxic oil syndrome,Cases/families,Case(s),,20000.0,Worldwide
227796,Fundus albipunctatus,Point prevalence,Class only,Unknown,0.0,Europe
228123,Coccidioidomycosis,Point prevalence,Class only,Unknown,0.0,Worldwide
228119,Fusariosis,Point prevalence,Class only,Unknown,0.0,Worldwide
228116,Hughes-Stovin syndrome,Cases/families,Case(s),,30.0,Worldwide
228116,Hughes-Stovin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228113,Anal fistula,Point prevalence,Value and class,1-5 / 10 000,18.3,Europe
228113,Anal fistula,Point prevalence,Value and class,1-5 / 10 000,18.0,United Kingdom
3399,Germ cell tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
389,Langerhans cell histiocytosis,Point prevalence,Value and class,1-9 / 100 000,1.5,Europe
228012,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,Cases/families,Family(ies),,4.0,Worldwide
228012,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
616,Medulloblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Europe
616,Medulloblastoma,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
616,Medulloblastoma,Annual incidence,Value and class,1-9 / 1 000 000,0.74,United States
301,Ependymal tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Europe
301,Ependymal tumor,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
301,Ependymal tumor,Lifetime Prevalence,Value and class,1-9 / 100 000,3.85,Europe
301,Ependymal tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.2,United Kingdom
301,Ependymal tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.43,United States
541,Primary cutaneous CD30+ T-cell lymphoproliferative disease,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Europe
541,Primary cutaneous CD30+ T-cell lymphoproliferative disease,Point prevalence,Class only,Unknown,0.0,Worldwide
543,Burkitt lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Europe
543,Burkitt lymphoma,Point prevalence,Value and class,1-5 / 10 000,12.5,Africa
543,Burkitt lymphoma,Point prevalence,Value and class,1-9 / 1 000 000,0.4,United States
543,Burkitt lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
319,Skeletal Ewing sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Europe
319,Skeletal Ewing sarcoma,Lifetime Prevalence,Value and class,1-9 / 100 000,2.33,Europe
319,Skeletal Ewing sarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
668,Osteosarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.23,Europe
668,Osteosarcoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
668,Osteosarcoma,Lifetime Prevalence,Value and class,1-9 / 100 000,3.17,Europe
668,Osteosarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.4,United States
227510,"Multiple system atrophy, cerebellar type",Point prevalence,Class only,1-9 / 100 000,0.0,Europe
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.8,Europe
94,Astrocytoma,Point prevalence,Value and class,1-9 / 100 000,2.5,Europe
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.909,Austria
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.777,Belgium
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,3.768,Bulgaria
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.184,Croatia
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.251,Czech Republic
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.443,Estonia
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.263,Finland
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.829,Germany
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.538,Iceland
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.147,Ireland
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.786,Italy
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,3.632,Latvia
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.801,Lithuania
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,3.392,Malta
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.78,Norway
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,3.543,Poland
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,3.931,Portugal
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,3.707,Slovakia
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.523,Slovenia
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.087,Spain
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.574,Switzerland
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,4.544,Netherlands
94,Astrocytoma,Annual incidence,Value and class,1-9 / 100 000,5.591,United Kingdom
360,Glioblastoma,Annual incidence,Value and class,1-9 / 100 000,3.0,Worldwide
360,Glioblastoma,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
360,Glioblastoma,Annual incidence,Value and class,1-9 / 100 000,2.52,Europe
360,Glioblastoma,Annual incidence,Value and class,1-9 / 100 000,3.2,United States
360,Glioblastoma,Annual incidence,Value and class,1-9 / 100 000,4.2,Croatia
360,Glioblastoma,Annual incidence,Value and class,1-9 / 100 000,3.7,Greece
360,Glioblastoma,Annual incidence,Value and class,1-9 / 100 000,3.0,Specific population
226292,Permanent congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,33.3,Europe
226292,Permanent congenital hypothyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
513,Acute lymphoblastic leukemia,Annual incidence,Value and class,1-9 / 100 000,2.75,Europe
513,Acute lymphoblastic leukemia,Annual incidence,Value and class,1-9 / 100 000,1.3,France
513,Acute lymphoblastic leukemia,Annual incidence,Value and class,1-9 / 100 000,1.6,United States
513,Acute lymphoblastic leukemia,Lifetime Prevalence,Value and class,1-5 / 10 000,22.0,United States
513,Acute lymphoblastic leukemia,Point prevalence,Value and class,1-5 / 10 000,11.0,Europe
1957,Esthesioneuroblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
1957,Esthesioneuroblastoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
226298,Central congenital hypothyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
2030,Fibrosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
2030,Fibrosarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
2126,Solitary fibrous tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
226295,Primary congenital hypothyroidism,Point prevalence,Value and class,1-5 / 10 000,37.5,Europe
226295,Primary congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,58.62,United States
226295,Primary congenital hypothyroidism,Prevalence at birth,Value and class,1-5 / 10 000,33.0,Finland
758,Pseudoxanthoma elasticum,Point prevalence,Value and class,1-9 / 100 000,2.5,Europe
419,Hyperprolinemia type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
1501,Adrenocortical carcinoma,Point prevalence,Value and class,1-9 / 1 000 000,0.75,Europe
1501,Adrenocortical carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.03,Europe
1501,Adrenocortical carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.082,Portugal
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.173,Austria
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Belgium
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.249,Bulgaria
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.547,Croatia
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.271,Czech Republic
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.314,Estonia
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.225,Finland
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.173,Germany
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Iceland
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.133,Ireland
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.288,Italy
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.514,Latvia
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.464,Lithuania
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.188,Malta
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.226,Norway
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.433,Poland
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.234,Slovakia
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.244,Slovenia
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.215,Spain
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.141,Switzerland
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.167,Netherlands
1501,Adrenocortical carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.183,United Kingdom
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Point prevalence,Class only,Unknown,0.0,Worldwide
3148,Malignant peripheral nerve sheath tumor,Annual incidence,Value and class,1-9 / 100 000,1.0,Worldwide
3148,Malignant peripheral nerve sheath tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
3273,Synovial sarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.463,Europe
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.95,France
391,Classic Hodgkin lymphoma,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
391,Classic Hodgkin lymphoma,Lifetime Prevalence,Value and class,1-5 / 10 000,22.9,Europe
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.8,United States
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.25,China
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Japan
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.012,Austria
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.443,Belgium
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.083,Bulgaria
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.923,Croatia
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.418,Czech Republic
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.392,Estonia
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.232,Finland
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.333,Germany
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.599,Iceland
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.355,Ireland
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.361,Italy
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.868,Latvia
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.372,Lithuania
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.701,Malta
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.267,Norway
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.2,Poland
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.435,Portugal
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.261,Slovakia
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.265,Slovenia
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.617,Spain
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.091,Switzerland
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.27,Netherlands
391,Classic Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.504,United Kingdom
2260,Oligomeganephronia,Point prevalence,Class only,Unknown,0.0,Worldwide
503,Larsen syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.65,France
503,Larsen syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,France
503,Larsen syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
503,Larsen syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
1652,Dent disease,Cases/families,Family(ies),,250.0,Worldwide
1652,Dent disease,Point prevalence,Class only,Unknown,0.0,Worldwide
2542,Isolated microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,2.18,France
2542,Isolated microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,3.33,Sweden
2542,Isolated microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,3.7,United States
2542,Isolated microphthalmia-anophthalmia-coloboma,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
2542,Isolated microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,Unknown,0.0,Europe
3280,Syringomyelia,Point prevalence,Value and class,1-9 / 100 000,8.4,Europe
3280,Syringomyelia,Point prevalence,Value and class,1-9 / 100 000,8.4,United Kingdom
3280,Syringomyelia,Point prevalence,Value and class,1-9 / 100 000,9.0,Spain
3280,Syringomyelia,Point prevalence,Value and class,1-9 / 100 000,1.94,Japan
3280,Syringomyelia,Point prevalence,Value and class,1-9 / 100 000,8.2,New Zealand
2478,Megalencephalic leukoencephalopathy with subcortical cysts,Cases/families,Case(s),,100.0,Worldwide
2478,Megalencephalic leukoencephalopathy with subcortical cysts,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3337,Primary Fanconi renotubular syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
223,Arginine vasopressin resistance,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Europe
223,Arginine vasopressin resistance,Prevalence at birth,Value and class,1-9 / 1 000 000,0.44,Specific population
757,Pseudohypoaldosteronism type 2,Cases/families,Case(s),,180.0,Worldwide
757,Pseudohypoaldosteronism type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
228423,GATA2 deficiency spectrum,Cases/families,Case(s),,22.0,Worldwide
228423,GATA2 deficiency spectrum,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521,Chronic myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,1.25,Europe
521,Chronic myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,1.25,France
521,Chronic myeloid leukemia,Point prevalence,Value and class,1-9 / 100 000,6.0,Europe
521,Chronic myeloid leukemia,Lifetime Prevalence,Value and class,1-9 / 100 000,5.63,Europe
521,Chronic myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,1.7,United States
228415,5q35 microduplication syndrome,Cases/families,Case(s),,30.0,Worldwide
228415,5q35 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
132,Hereditary butyrylcholinesterase deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
1172,Autosomal recessive cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,3.3,Portugal
1172,Autosomal recessive cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,3.3,Worldwide
1172,Autosomal recessive cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,5.3,France
1172,Autosomal recessive cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,2.3,Norway
1172,Autosomal recessive cerebellar ataxia,Point prevalence,Value and class,1-9 / 100 000,3.6,Europe
229717,Non-syndromic agammaglobulinemia,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Worldwide
228426,Syndromic multisystem autoimmune disease due to Itch deficiency,Cases/families,Case(s),,10.0,Worldwide
228426,Syndromic multisystem autoimmune disease due to Itch deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2345,Isolated Klippel-Feil syndrome,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
2345,Isolated Klippel-Feil syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Europe
1333,Familial pancreatic carcinoma,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
228396,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,Cases/families,Case(s),,3.0,Worldwide
228396,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,Cases/families,Case(s),,19.0,Worldwide
228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,Cases/families,Case(s),,5.0,Worldwide
228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228410,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome,Cases/families,Case(s),,19.0,Worldwide
228410,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228399,8q12 microduplication syndrome,Cases/families,Case(s),,4.0,Worldwide
228399,8q12 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2781,Osteopetrosis and related disorders,Annual incidence,Value and class,1-9 / 100 000,1.0,Europe
2781,Osteopetrosis and related disorders,Point prevalence,Class only,Unknown,0.0,Worldwide
228402,2q23.1 microdeletion syndrome,Cases/families,Case(s),,18.0,Worldwide
228402,2q23.1 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228366,CLN7 disease,Cases/families,Case(s),,70.0,Worldwide
228366,CLN7 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228363,CLN6 disease,Cases/families,Case(s),,125.0,Worldwide
228363,CLN6 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228360,CLN5 disease,Cases/families,Case(s),,85.0,Worldwide
228360,CLN5 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228384,5q14.3 microdeletion syndrome,Cases/families,Case(s),,40.0,Worldwide
228384,5q14.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228379,Virus-associated trichodysplasia spinulosa,Cases/families,Case(s),,7.0,Worldwide
228379,Virus-associated trichodysplasia spinulosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228374,Charcot-Marie-Tooth disease type 2B5,Cases/families,Case(s),,4.0,Worldwide
228374,Charcot-Marie-Tooth disease type 2B5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228371,Foodborne botulism,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
228371,Foodborne botulism,Point prevalence,Class only,Unknown,0.0,Worldwide
228371,Foodborne botulism,Annual incidence,Value and class,<1 / 1 000 000,0.01,United States
228371,Foodborne botulism,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Romania
228337,CLN10 disease,Cases/families,Case(s),,11.0,Worldwide
228337,CLN10 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228329,CLN1 disease,Cases/families,Case(s),,200.0,Worldwide
228329,CLN1 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228354,CLN8 disease,Cases/families,Case(s),,21.0,Worldwide
228354,CLN8 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228349,CLN2 disease,Point prevalence,Value and class,<1 / 1 000 000,0.07,Worldwide
228346,CLN3 disease,Cases/families,Case(s),,400.0,Worldwide
228346,CLN3 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228343,CLN4 disease,Cases/families,Case(s),,16.0,Worldwide
228343,CLN4 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228290,White fibrous papulosis of the neck,Point prevalence,Class only,Unknown,0.0,Worldwide
228293,Pseudoxanthoma elasticum-like papillary dermal elastolysis,Point prevalence,Class only,Unknown,0.0,Worldwide
228299,Mid-dermal elastolysis,Point prevalence,Class only,Unknown,0.0,Worldwide
228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",Cases/families,Case(s),,300.0,Worldwide
228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",Point prevalence,Class only,Unknown,0.0,Worldwide
228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",Cases/families,Family(ies),,30.0,Worldwide
228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",Cases/families,Family(ies),,20.0,Worldwide
228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228312,"Autoimmune hemolytic anemia, cold type",Point prevalence,Class only,1-9 / 100 000,0.0,Europe
228240,Elastoderma,Cases/families,Case(s),,5.0,Worldwide
228240,Elastoderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
135,CACH syndrome,Cases/families,Case(s),,148.0,Worldwide
135,CACH syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
228247,Acquired pseudoxanthoma elasticum,Cases/families,Case(s),,20.0,Worldwide
228247,Acquired pseudoxanthoma elasticum,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228254,Elastoma,Point prevalence,Class only,Unknown,0.0,Worldwide
228264,Papular elastorrhexis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
228272,Primary anetoderma,Point prevalence,Class only,Unknown,0.0,Worldwide
228277,Familial anetoderma,Cases/families,Family(ies),,12.0,Worldwide
228277,Familial anetoderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228285,Acquired cutis laxa,Point prevalence,Class only,Unknown,0.0,Worldwide
228190,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,Cases/families,Case(s),,7.0,Worldwide
228190,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3203,Overhydrated hereditary stomatocytosis,Cases/families,Family(ies),,20.0,Worldwide
3203,Overhydrated hereditary stomatocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3202,Dehydrated hereditary stomatocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3202,Dehydrated hereditary stomatocytosis,Cases/families,Family(ies),,20.0,Worldwide
3202,Dehydrated hereditary stomatocytosis,Point prevalence,Value and class,1-5 / 10 000,0.7,Denmark
3202,Dehydrated hereditary stomatocytosis,Point prevalence,Value and class,1-9 / 100 000,0.1,North America
228236,Linear focal elastosis,Cases/families,Case(s),,30.0,Worldwide
228236,Linear focal elastosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228227,Late-onset focal dermal elastosis,Cases/families,Case(s),,5.0,Worldwide
228227,Late-onset focal dermal elastosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228140,Idiopathic ventricular fibrillation,Point prevalence,Class only,Unknown,0.0,Worldwide
1018,X-linked Alport syndrome-diffuse leiomyomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
228165,Baló concentric sclerosis,Point prevalence,Class only,Unknown,0.0,Worldwide
306,Self-limited infantile epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
228157,Marburg acute multiple sclerosis,Point prevalence,Class only,Unknown,0.0,Worldwide
328,Congenital factor X deficiency,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,Cases/families,Case(s),,28.0,Worldwide
228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
228169,Autosomal dominant striatal neurodegeneration,Cases/families,Case(s),,11.0,Worldwide
228169,Autosomal dominant striatal neurodegeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2132,Hemoglobin C disease,Point prevalence,Value and class,>1 / 1000,166.66,United States
2132,Hemoglobin C disease,Prevalence at birth,Value and class,1-9 / 100 000,3.65,Belgium
2133,Hemoglobin E disease,Point prevalence,Class only,Unknown,0.0,Worldwide
228179,Autosomal dominant Charcot-Marie-Tooth disease type 2M,Cases/families,Case(s),,20.0,Worldwide
228179,Autosomal dominant Charcot-Marie-Tooth disease type 2M,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
288,Hereditary elliptocytosis,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,Cases/families,Case(s),,9.0,Worldwide
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231512,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
1320,Idiopathic camptocormia,Point prevalence,Class only,Unknown,0.0,Worldwide
256,Early-onset generalized limb-onset dystonia,Annual incidence,Value and class,1-5 / 10 000,20.0,Specific population
256,Early-onset generalized limb-onset dystonia,Annual incidence,Value and class,1-9 / 1 000 000,0.2,United States
256,Early-onset generalized limb-onset dystonia,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Europe
256,Early-onset generalized limb-onset dystonia,Point prevalence,Value and class,1-9 / 100 000,3.4,United States
256,Early-onset generalized limb-onset dystonia,Prevalence at birth,Value and class,1-9 / 100 000,8.3,France
231500,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
441,Pure autonomic failure,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
1576,Infantile bilateral striatal necrosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
231445,Paraparetic variant of Guillain-Barré syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
231445,Paraparetic variant of Guillain-Barré syndrome,Annual incidence,Class only,Unknown,0.0,Worldwide
2073,Narcolepsy type 1,Point prevalence,Value and class,1-5 / 10 000,30.0,Europe
2073,Narcolepsy type 1,Annual incidence,Value and class,1-9 / 1 000 000,0.74,United States
2073,Narcolepsy type 1,Point prevalence,Value and class,1-5 / 10 000,22.0,Norway
2073,Narcolepsy type 1,Point prevalence,Value and class,1-5 / 10 000,26.0,Finland
2073,Narcolepsy type 1,Point prevalence,Value and class,1-5 / 10 000,34.0,China
2073,Narcolepsy type 1,Point prevalence,Value and class,1-5 / 10 000,28.9,United States
2073,Narcolepsy type 1,Point prevalence,Value and class,1-5 / 10 000,40.0,United Kingdom
231401,Alpha-thalassemia-myelodysplastic syndrome,Cases/families,Case(s),,80.0,Worldwide
231401,Alpha-thalassemia-myelodysplastic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1866,"Focal, segmental or multifocal dystonia",Annual incidence,Value and class,1-9 / 100 000,2.0,Europe
1866,"Focal, segmental or multifocal dystonia",Point prevalence,Value and class,1-5 / 10 000,11.7,Europe
1866,"Focal, segmental or multifocal dystonia",Point prevalence,Value and class,1-5 / 10 000,11.2,Serbia
1866,"Focal, segmental or multifocal dystonia",Point prevalence,Value and class,1-5 / 10 000,31.2,Iceland
1866,"Focal, segmental or multifocal dystonia",Point prevalence,Value and class,1-5 / 10 000,29.5,United States
1866,"Focal, segmental or multifocal dystonia",Point prevalence,Value and class,1-5 / 10 000,13.7,Japan
1866,"Focal, segmental or multifocal dystonia",Point prevalence,Value and class,1-5 / 10 000,10.0,Egypt
1866,"Focal, segmental or multifocal dystonia",Point prevalence,Value and class,1-5 / 10 000,14.3,Thailand
231393,Beta-thalassemia-X-linked thrombocytopenia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
809,Mixed connective tissue disease,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Norway
809,Mixed connective tissue disease,Point prevalence,Value and class,1-9 / 100 000,3.0,Norway
809,Mixed connective tissue disease,Point prevalence,Value and class,1-9 / 100 000,2.7,Japan
809,Mixed connective tissue disease,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
809,Mixed connective tissue disease,Annual incidence,Value and class,1-9 / 100 000,1.9,United States
809,Mixed connective tissue disease,Annual incidence,Value and class,1-9 / 1 000 000,0.8,Finland
1309,Medullary sponge kidney,Point prevalence,Class only,Unknown,0.0,Worldwide
231249,Hemoglobin E-beta-thalassemia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
231242,Hemoglobin C-beta-thalassemia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2197,Idiopathic hypercalciuria,Annual incidence,Class only,Unknown,0.0,Worldwide
2197,Idiopathic hypercalciuria,Point prevalence,Class only,Unknown,0.0,Worldwide
231237,Delta-beta-thalassemia,Point prevalence,Class only,Unknown,0.0,Worldwide
231226,Unstable beta globin chain variant disease,Point prevalence,Class only,Unknown,0.0,Worldwide
18,Distal renal tubular acidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
231222,Beta-thalassemia intermedia,Point prevalence,Class only,Unknown,0.0,Worldwide
160,Castleman disease,Point prevalence,Class only,Unknown,0.0,Worldwide
160,Castleman disease,Annual incidence,Class only,1-9 / 100 000,0.0,United States
231214,Beta-thalassemia major,Point prevalence,Class only,Unknown,0.0,Worldwide
231214,Beta-thalassemia major,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,United States
231214,Beta-thalassemia major,Point prevalence,Value and class,>1 / 1000,160.0,Bahrain
231214,Beta-thalassemia major,Point prevalence,Value and class,1-5 / 10 000,40.0,Oman
2841,Hailey-Hailey disease,Point prevalence,Class only,Unknown,0.0,Worldwide
231183,Usher syndrome type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Denmark
231183,Usher syndrome type 3,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
231183,Usher syndrome type 3,Point prevalence,Value and class,1-9 / 100 000,1.2,Specific population
347,Frasier syndrome,Cases/families,Case(s),,150.0,Worldwide
347,Frasier syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231178,Usher syndrome type 2,Point prevalence,Value and class,1-9 / 100 000,2.2,Denmark
231178,Usher syndrome type 2,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
1670,Chronic diarrhea with villous atrophy,Cases/families,Case(s),,2.0,Worldwide
1670,Chronic diarrhea with villous atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231154,Combined immunodeficiency due to partial RAG1 deficiency,Cases/families,Case(s),,9.0,Worldwide
231154,Combined immunodeficiency due to partial RAG1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231160,Familial cerebral saccular aneurysm,Point prevalence,Class only,Unknown,0.0,Worldwide
231160,Familial cerebral saccular aneurysm,Annual incidence,Class only,Unknown,0.0,Worldwide
231169,Usher syndrome type 1,Point prevalence,Value and class,1-9 / 100 000,1.5,Denmark
231169,Usher syndrome type 1,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
231147,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
231080,High-grade dysplasia in patients with Barrett esophagus,Point prevalence,Value and class,1-5 / 10 000,36.0,Europe
405,Familial hypocalciuric hypercalcemia,Point prevalence,Class only,Unknown,0.0,Worldwide
231108,Rhabdoid tumor predisposition syndrome,Cases/families,Family(ies),,5.0,Worldwide
231108,Rhabdoid tumor predisposition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231111,Drug-induced lupus erythematosus,Point prevalence,Class only,Unknown,0.0,Worldwide
1223,Balantidiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
231040,Familial generalized lentiginosis,Point prevalence,Class only,Unknown,0.0,Worldwide
3318,Essential thrombocythemia,Point prevalence,Value and class,1-5 / 10 000,24.0,United States
3318,Essential thrombocythemia,Annual incidence,Value and class,1-9 / 100 000,1.55,Sweden
3318,Essential thrombocythemia,Point prevalence,Value and class,1-5 / 10 000,30.0,Sweden
3318,Essential thrombocythemia,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
3318,Essential thrombocythemia,Annual incidence,Value and class,1-9 / 1 000 000,0.48,Europe
230857,Ehlers-Danlos/osteogenesis imperfecta syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
230851,Cardiac-valvular Ehlers-Danlos syndrome,Cases/families,Case(s),,6.0,Worldwide
230851,Cardiac-valvular Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231031,Erythema palmare hereditarium,Point prevalence,Class only,Unknown,0.0,Worldwide
913,Zollinger-Ellison syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Europe
913,Zollinger-Ellison syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
913,Zollinger-Ellison syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Denmark
913,Zollinger-Ellison syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Switzerland
913,Zollinger-Ellison syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.05,Ireland
913,Zollinger-Ellison syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.125,Worldwide
231013,Congenital trigeminal anesthesia,Point prevalence,Class only,Unknown,0.0,Worldwide
230800,Toxin-mediated infectious botulism,Point prevalence,Class only,Unknown,0.0,Worldwide
82,Hereditary thrombophilia due to congenital antithrombin deficiency,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
230839,Classical-like Ehlers-Danlos syndrome type 1,Cases/families,Case(s),,17.0,Worldwide
230839,Classical-like Ehlers-Danlos syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
519,Acute myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,2.5,Worldwide
519,Acute myeloid leukemia,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
519,Acute myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,3.39,Europe
519,Acute myeloid leukemia,Lifetime Prevalence,Value and class,1-5 / 10 000,10.98,Europe
519,Acute myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,4.4,France
519,Acute myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,2.8,Denmark
519,Acute myeloid leukemia,Annual incidence,Value and class,1-9 / 100 000,3.7,United States
235936,Familial hyperaldosteronism,Point prevalence,Class only,Unknown,0.0,Europe
238446,15q11q13 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238446,15q11q13 microduplication syndrome,Cases/families,Case(s),,30.0,Worldwide
238329,Severe X-linked mitochondrial encephalomyopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238329,Severe X-linked mitochondrial encephalomyopathy,Cases/families,Case(s),,2.0,Worldwide
231573,Congenital erosive and vesicular dermatosis,Cases/families,Case(s),,31.0,Worldwide
231573,Congenital erosive and vesicular dermatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231580,Primary unilateral adrenal hyperplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
231556,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
231556,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231568,Autosomal dominant generalized dystrophic epidermolysis bullosa,Point prevalence,Class only,Unknown,0.0,Worldwide
231637,Rare surgically correctable form of primary aldosteronism,Point prevalence,Class only,Unknown,0.0,Worldwide
231625,Adrenocortical carcinoma with pure aldosterone hypersecretion,Point prevalence,Class only,Unknown,0.0,Worldwide
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
286,Vascular Ehlers-Danlos syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
285,Hypermobile Ehlers-Danlos syndrome,Point prevalence,Value and class,1-5 / 10 000,12.5,Europe
231736,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,Cases/families,Case(s),,8.0,Worldwide
231736,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231742,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,Cases/families,Family(ies),,1.0,Worldwide
231742,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
257,Epidermolysis bullosa simplex with muscular dystrophy,Cases/families,Case(s),,40.0,Worldwide
257,Epidermolysis bullosa simplex with muscular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1901,Dermatosparaxis Ehlers-Danlos syndrome,Cases/families,Case(s),,15.0,Worldwide
1901,Dermatosparaxis Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,Cases/families,Case(s),,13.0,Worldwide
231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1899,Arthrochalasia Ehlers-Danlos syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
839,"Congenital nephrotic syndrome, Finnish type",Point prevalence,Class only,Unknown,0.0,Worldwide
839,"Congenital nephrotic syndrome, Finnish type",Prevalence at birth,Value and class,1-5 / 10 000,12.2,Finland
531,Miller-Dieker syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
3394,Soft tissue sarcoma,Annual incidence,Value and class,1-9 / 100 000,3.6,France
3394,Soft tissue sarcoma,Point prevalence,Value and class,1-5 / 10 000,30.0,Europe
3394,Soft tissue sarcoma,Annual incidence,Value and class,1-9 / 100 000,4.74,Europe
1084,Isolated lissencephaly type 1 without known genetic defects,Point prevalence,Class only,Unknown,0.0,Worldwide
1083,Microlissencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
452,X-linked lissencephaly with abnormal genitalia,Cases/families,Family(ies),,30.0,Worldwide
452,X-linked lissencephaly with abnormal genitalia,Point prevalence,Class only,Unknown,0.0,Worldwide
238750,4q21 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238750,4q21 microdeletion syndrome,Cases/families,Case(s),,14.0,Worldwide
238763,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,Cases/families,Case(s),,12.0,Worldwide
238763,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238722,Familial congenital mirror movements,Cases/families,Case(s),,75.0,Worldwide
238722,Familial congenital mirror movements,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238744,Mammary-digital-nail syndrome,Cases/families,Case(s),,11.0,Worldwide
238744,Mammary-digital-nail syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238769,1q44 microdeletion syndrome,Cases/families,Case(s),,100.0,Worldwide
238769,1q44 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238517,Hypotonia-cystinuria type 1 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
238505,Combined immunodeficiency due to CD27 deficiency,Cases/families,Case(s),,18.0,Worldwide
238505,Combined immunodeficiency due to CD27 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238468,Hypohidrotic ectodermal dysplasia,Point prevalence,Value and class,1-9 / 100 000,6.7,Europe
238475,Familial hypercholanemia,Cases/families,Case(s),,23.0,Worldwide
238475,Familial hypercholanemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238455,Infantile dystonia-parkinsonism,Cases/families,Case(s),,16.0,Worldwide
238455,Infantile dystonia-parkinsonism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238459,SLC35A1-CDG,Cases/families,Case(s),,3.0,Worldwide
238459,SLC35A1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238578,Familial clubfoot due to 17q23.1q23.2 microduplication,Cases/families,Family(ies),,4.0,Worldwide
238578,Familial clubfoot due to 17q23.1q23.2 microduplication,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.22,Japan
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Worldwide
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.21,Brazil
238557,Chuvash erythrocytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,Cases/families,Case(s),,80.0,Worldwide
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238547,Acquired secondary polycythemia,Point prevalence,Class only,Unknown,0.0,Worldwide
238523,Atypical hypotonia-cystinuria syndrome,Cases/families,Case(s),,2.0,Worldwide
238523,Atypical hypotonia-cystinuria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238536,Congenital secondary polycythemia,Point prevalence,Class only,Unknown,0.0,Worldwide
238624,Idiopathic intracranial hypertension,Point prevalence,Value and class,1-5 / 10 000,14.0,Europe
238621,Ileal pouch anal anastomosis related faecal incontinence,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
238606,Primary orthostatic tremor,Cases/families,Case(s),,390.0,Worldwide
238606,Primary orthostatic tremor,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
238593,IgG4-related mesenteritis,Point prevalence,Class only,Unknown,0.0,Worldwide
238670,Isolated thyrotropin-releasing hormone deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
238666,Isolated congenital hypogonadotropic hypogonadism,Point prevalence,Class only,Unknown,0.0,Worldwide
238666,Isolated congenital hypogonadotropic hypogonadism,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
238654,"Congenital primary megaureter, nonrefluxing and unobstructed form",Point prevalence,Class only,Unknown,0.0,Worldwide
238650,"Congenital primary megaureter, refluxing form",Point prevalence,Class only,Unknown,0.0,Worldwide
238646,"Congenital primary megaureter, obstructed form",Point prevalence,Class only,Unknown,0.0,Worldwide
238642,"Primary megaureter, adult-onset form",Point prevalence,Class only,Unknown,0.0,Worldwide
240071,Classic progressive supranuclear palsy syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
240112,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Cases/families,Case(s),,10.0,Worldwide
240112,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
240103,Progressive supranuclear palsy-corticobasal syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Europe
240094,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
240085,Progressive supranuclear palsy-predominant parkinsonism syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
240760,Nijmegen breakage syndrome-like disorder,Cases/families,Case(s),,1.0,Worldwide
240760,Nijmegen breakage syndrome-like disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
331226,Susceptibility to infection due to TYK2 deficiency,Cases/families,Case(s),,8.0,Worldwide
331226,Susceptibility to infection due to TYK2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
331235,Selective IgM deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
331176,Severe congenital neutropenia due to G6PC3 deficiency,Cases/families,Case(s),,57.0,Worldwide
331176,Severe congenital neutropenia due to G6PC3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
331187,Immunodeficiency due to MASP-2 deficiency,Cases/families,Case(s),,1.0,Worldwide
331187,Immunodeficiency due to MASP-2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
331190,Immunodeficiency due to ficolin3 deficiency,Cases/families,Case(s),,1.0,Worldwide
331190,Immunodeficiency due to ficolin3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
331206,Severe combined immunodeficiency due to complete RAG1/2 deficiency,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
330064,Chronic actinic dermatitis,Point prevalence,Value and class,1-5 / 10 000,16.7,United Kingdom
330064,Chronic actinic dermatitis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
330001,Wild type ATTR amyloidosis,Point prevalence,Value and class,1-5 / 10 000,1.72,Worldwide
329977,Classic neuroendocrine tumor of appendix,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Worldwide
329977,Classic neuroendocrine tumor of appendix,Point prevalence,Class only,Unknown,0.0,Worldwide
329984,Goblet cell carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.025,Worldwide
329984,Goblet cell carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
330012,High altitude pulmonary edema,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
330015,Lead poisoning,Point prevalence,Value and class,1-9 / 100 000,2.3,Europe
330015,Lead poisoning,Point prevalence,Value and class,1-9 / 1 000 000,0.68,France
330032,Hemoglobin Lepore-beta-thalassemia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
330041,Hemoglobin M disease,Point prevalence,Class only,Unknown,0.0,Worldwide
330021,Mercury poisoning,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
330029,Hypotrichosis-deafness syndrome,Cases/families,Case(s),,1.0,Worldwide
330029,Hypotrichosis-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
330058,Hydroa vacciniforme,Point prevalence,Value and class,1-9 / 1 000 000,0.34,United Kingdom
330058,Hydroa vacciniforme,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
330061,Actinic prurigo,Point prevalence,Class only,Unknown,0.0,Worldwide
330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,Cases/families,Case(s),,11.0,Worldwide
330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,Cases/families,Case(s),,3.0,Worldwide
330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329813,Mosaic genome-wide paternal uniparental disomy syndrome,Cases/families,Case(s),,13.0,Worldwide
329813,Mosaic genome-wide paternal uniparental disomy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329802,5p13 microduplication syndrome,Cases/families,Case(s),,7.0,Worldwide
329802,5p13 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329883,Non-hypoproteinemic hypertrophic gastropathy,Cases/families,Family(ies),,1.0,Worldwide
329883,Non-hypoproteinemic hypertrophic gastropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329874,Idiopathic giant cell myocarditis,Point prevalence,Class only,Unknown,0.0,Worldwide
329475,Spastic paraplegia-Paget disease of bone syndrome,Cases/families,Family(ies),,1.0,Worldwide
329475,Spastic paraplegia-Paget disease of bone syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329481,Lipoprotein glomerulopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329481,Lipoprotein glomerulopathy,Cases/families,Case(s),,150.0,Worldwide
329478,Adult-onset distal myopathy due to VCP mutation,Cases/families,Case(s),,9.0,Worldwide
329478,Adult-onset distal myopathy due to VCP mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329942,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,Cases/families,Case(s),,1.0,Worldwide
329942,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329971,Generalized juvenile polyposis/juvenile polyposis coli,Point prevalence,Class only,Unknown,0.0,Worldwide
329967,Intermittent hydrarthrosis,Point prevalence,Class only,Unknown,0.0,Worldwide
329918,C3 glomerulopathy,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Europe
329903,Immunoglobulin-mediated membranoproliferative glomerulonephritis,Point prevalence,Class only,Unknown,0.0,Worldwide
329308,Fatty acid hydroxylase-associated neurodegeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329314,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
329319,Thrombocythemia with distal limb defects,Cases/families,Family(ies),,3.0,Worldwide
329319,Thrombocythemia with distal limb defects,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329284,Beta-propeller protein-associated neurodegeneration,Cases/families,Case(s),,68.0,Worldwide
329284,Beta-propeller protein-associated neurodegeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329457,Distal arthrogryposis type 5D,Cases/families,Case(s),,33.0,Worldwide
329457,Distal arthrogryposis type 5D,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329466,"Autosomal dominant focal dystonia, DYT25 type",Cases/families,Case(s),,28.0,Worldwide
329466,"Autosomal dominant focal dystonia, DYT25 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329469,Acute megakaryoblastic leukemia in children without Down syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
329329,Autosomal recessive frontotemporal pachygyria,Cases/families,Case(s),,7.0,Worldwide
329329,Autosomal recessive frontotemporal pachygyria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329332,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,Cases/families,Case(s),,4.0,Worldwide
329332,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
329228,Microcephalic primordial dwarfism due to ZNF335 deficiency,Cases/families,Case(s),,10.0,Worldwide
329228,Microcephalic primordial dwarfism due to ZNF335 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329224,Schuurs-Hoeijmakers syndrome,Cases/families,Case(s),,2.0,Worldwide
329224,Schuurs-Hoeijmakers syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329217,Cerebral sinovenous thrombosis,Annual incidence,Class only,1-9 / 1 000 000,0.0,Europe
329217,Cerebral sinovenous thrombosis,Point prevalence,Class only,Unknown,0.0,Worldwide
329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,Cases/families,Case(s),,99.0,Worldwide
329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329195,Developmental delay with autism spectrum disorder and gait instability,Cases/families,Case(s),,22.0,Worldwide
329195,Developmental delay with autism spectrum disorder and gait instability,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329191,Tall stature-long halluces-multiple extra-epiphyses syndrome,Cases/families,Family(ies),,2.0,Worldwide
329191,Tall stature-long halluces-multiple extra-epiphyses syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,Cases/families,Case(s),,3.0,Worldwide
329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,Cases/families,Case(s),,8.0,Worldwide
329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329249,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,Cases/families,Case(s),,13.0,Worldwide
329249,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329242,Congenital chronic diarrhea with protein-losing enteropathy,Cases/families,Case(s),,2.0,Worldwide
329242,Congenital chronic diarrhea with protein-losing enteropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,Cases/families,Case(s),,27.0,Worldwide
329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329173,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,Cases/families,Case(s),,5.0,Worldwide
329173,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
329,Congenital factor XI deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
1243,Best vitelliform macular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Denmark
1243,Best vitelliform macular dystrophy,Point prevalence,Value and class,1-5 / 10 000,20.0,Sweden
1243,Best vitelliform macular dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
1243,Best vitelliform macular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.5,Denmark
1243,Best vitelliform macular dystrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
325124,Testicular agenesis,Point prevalence,Value and class,1-9 / 100 000,2.5,Worldwide
325345,"46,XY ovotesticular difference of sex development",Point prevalence,Value and class,1-9 / 100 000,1.3,Worldwide
324964,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Worldwide
324964,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,Annual incidence,Value and class,1-9 / 100 000,2.5,Worldwide
324972,MAGIC syndrome,Cases/families,Case(s),,21.0,Worldwide
324972,MAGIC syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324977,Proteasome-associated autoinflammatory syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324977,Proteasome-associated autoinflammatory syndrome,Cases/families,Case(s),,40.0,Worldwide
324718,ABetaA21G amyloidosis,Cases/families,Family(ies),,2.0,Worldwide
324718,ABetaA21G amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324713,"ABeta amyloidosis, Italian type",Cases/families,Family(ies),,7.0,Worldwide
324713,"ABeta amyloidosis, Italian type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324737,SRD5A3-CDG,Cases/families,Family(ies),,7.0,Worldwide
324737,SRD5A3-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324723,"ABeta amyloidosis, Arctic type",Cases/families,Family(ies),,1.0,Worldwide
324723,"ABeta amyloidosis, Arctic type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324648,Invasive non-typhoidal salmonellosis,Point prevalence,Class only,Unknown,0.0,Worldwide
324636,Autoerythrocyte sensitization syndrome,Cases/families,Case(s),,170.0,Worldwide
324636,Autoerythrocyte sensitization syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324708,"ABeta amyloidosis, Iowa type",Cases/families,Family(ies),,2.0,Worldwide
324708,"ABeta amyloidosis, Iowa type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324703,ABetaL34V amyloidosis,Cases/families,Family(ies),,1.0,Worldwide
324703,ABetaL34V amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324611,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,Point prevalence,Class only,Unknown,0.0,Worldwide
324632,Hendra virus infection,Cases/families,Case(s),,7.0,Worldwide
324632,Hendra virus infection,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324625,Chikungunya,Annual incidence,Value and class,<1 / 1 000 000,0.02,France
324625,Chikungunya,Point prevalence,Class only,Unknown,0.0,Worldwide
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Europe
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Belgium
324625,Chikungunya,Annual incidence,Value and class,<1 / 1 000 000,0.06,Finland
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Germany
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Italy
324625,Chikungunya,Annual incidence,Value and class,<1 / 1 000 000,0.02,Latvia
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Spain
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Sweden
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.24,United Kingdom
324625,Chikungunya,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Malta
324625,Chikungunya,Annual incidence,Value and class,<1 / 1 000 000,0.02,Slovenia
324625,Chikungunya,Annual incidence,Class only,<1 / 1 000 000,0.0,Greece
324625,Chikungunya,Annual incidence,Class only,<1 / 1 000 000,0.0,Hungary
324625,Chikungunya,Annual incidence,Class only,<1 / 1 000 000,0.0,Ireland
324625,Chikungunya,Annual incidence,Class only,<1 / 1 000 000,0.0,Portugal
324588,Familial dyskinesia and facial myokymia,Cases/families,Case(s),,18.0,Worldwide
324588,Familial dyskinesia and facial myokymia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324601,X-linked cleft palate and ankyloglossia,Point prevalence,Class only,Unknown,0.0,Worldwide
324581,Benign Samaritan congenital myopathy,Cases/families,Case(s),,4.0,Worldwide
324581,Benign Samaritan congenital myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324585,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,Cases/families,Case(s),,9.0,Worldwide
324585,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324569,Pontocerebellar hypoplasia type 8,Cases/families,Case(s),,6.0,Worldwide
324569,Pontocerebellar hypoplasia type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324575,Hyperinsulinism due to HNF1A deficiency,Cases/families,Case(s),,2.0,Worldwide
324575,Hyperinsulinism due to HNF1A deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324540,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
324540,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,Cases/families,Family(ies),,6.0,Worldwide
324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,Cases/families,Case(s),,2.0,Worldwide
324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324535,Combined oxidative phosphorylation defect type 11,Cases/families,Case(s),,32.0,Worldwide
324535,Combined oxidative phosphorylation defect type 11,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324525,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,Cases/families,Case(s),,3.0,Worldwide
324525,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324442,Autosomal recessive axonal neuropathy with neuromyotonia,Cases/families,Family(ies),,33.0,Worldwide
324442,Autosomal recessive axonal neuropathy with neuromyotonia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324416,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,Cases/families,Case(s),,2.0,Worldwide
324416,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324422,ALG13-CDG,Cases/families,Case(s),,1.0,Worldwide
324422,ALG13-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,Cases/families,Case(s),,2.0,Worldwide
324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324381,Hereditary inclusion body myopathy type 4,Cases/families,Case(s),,17.0,Worldwide
324381,Hereditary inclusion body myopathy type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324364,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,Cases/families,Case(s),,2.0,Worldwide
324364,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324353,Congenital achiasma,Point prevalence,Class only,Unknown,0.0,Worldwide
324321,Sinoatrial node dysfunction and deafness,Cases/families,Case(s),,8.0,Worldwide
324321,Sinoatrial node dysfunction and deafness,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324313,9p13 microdeletion syndrome,Cases/families,Case(s),,4.0,Worldwide
324313,9p13 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324307,Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
324307,Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324299,Multiple paragangliomas associated with polycythemia,Cases/families,Case(s),,2.0,Worldwide
324299,Multiple paragangliomas associated with polycythemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324294,T-cell immunodeficiency with epidermodysplasia verruciformis,Cases/families,Case(s),,2.0,Worldwide
324294,T-cell immunodeficiency with epidermodysplasia verruciformis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324290,PRDM8-related progressive myoclonus epilepsy,Cases/families,Case(s),,3.0,Worldwide
324290,PRDM8-related progressive myoclonus epilepsy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
324262,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,Cases/families,Case(s),,10.0,Worldwide
324262,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320360,MT-ATP6-related mitochondrial spastic paraplegia,Cases/families,Case(s),,5.0,Worldwide
320360,MT-ATP6-related mitochondrial spastic paraplegia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320355,Autosomal dominant spastic paraplegia type 41,Cases/families,Case(s),,7.0,Worldwide
320355,Autosomal dominant spastic paraplegia type 41,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320370,Autosomal recessive spastic paraplegia type 43,Cases/families,Case(s),,2.0,Worldwide
320370,Autosomal recessive spastic paraplegia type 43,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320365,Autosomal dominant spastic paraplegia type 36,Cases/families,Family(ies),,1.0,Worldwide
320365,Autosomal dominant spastic paraplegia type 36,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320380,Autosomal recessive spastic paraplegia type 54,Cases/families,Family(ies),,6.0,Worldwide
320380,Autosomal recessive spastic paraplegia type 54,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320375,Autosomal recessive spastic paraplegia type 55,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320375,Autosomal recessive spastic paraplegia type 55,Cases/families,Case(s),,14.0,Worldwide
320391,Autosomal recessive spastic paraplegia type 46,Cases/families,Case(s),,5.0,Worldwide
320391,Autosomal recessive spastic paraplegia type 46,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Cases/families,Case(s),,5.0,Worldwide
320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320401,Autosomal recessive spastic paraplegia type 44,Cases/families,Case(s),,3.0,Worldwide
320401,Autosomal recessive spastic paraplegia type 44,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320396,Autosomal recessive spastic paraplegia type 45,Cases/families,Family(ies),,7.0,Worldwide
320396,Autosomal recessive spastic paraplegia type 45,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320411,Autosomal recessive spastic paraplegia type 56,Cases/families,Family(ies),,5.0,Worldwide
320411,Autosomal recessive spastic paraplegia type 56,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,Cases/families,Case(s),,75.0,Worldwide
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319543,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
319547,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,Cases/families,Case(s),,13.0,Worldwide
319547,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319535,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
319539,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
319519,Combined oxidative phosphorylation defect type 14,Cases/families,Case(s),,5.0,Worldwide
319519,Combined oxidative phosphorylation defect type 14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319524,Combined oxidative phosphorylation defect type 15,Cases/families,Case(s),,16.0,Worldwide
319524,Combined oxidative phosphorylation defect type 15,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319509,Combined oxidative phosphorylation defect type 9,Cases/families,Case(s),,4.0,Worldwide
319509,Combined oxidative phosphorylation defect type 9,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319514,Combined oxidative phosphorylation defect type 13,Cases/families,Case(s),,2.0,Worldwide
319514,Combined oxidative phosphorylation defect type 13,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319589,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Cases/families,Case(s),,2.0,Worldwide
319589,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Cases/families,Case(s),,17.0,Worldwide
319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319574,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Cases/families,Case(s),,6.0,Worldwide
319574,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Cases/families,Case(s),,68.0,Worldwide
319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,Cases/families,Case(s),,6.0,Worldwide
319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319569,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Cases/families,Case(s),,18.0,Worldwide
319569,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Cases/families,Case(s),,180.0,Worldwide
319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,Cases/families,Case(s),,49.0,Worldwide
319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319651,Constitutional megaloblastic anemia with severe neurologic disease,Cases/families,Case(s),,6.0,Worldwide
319651,Constitutional megaloblastic anemia with severe neurologic disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319646,PGM1-CDG,Cases/families,Case(s),,46.0,Worldwide
319646,PGM1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319640,Retinal macular dystrophy type 2,Cases/families,Family(ies),,5.0,Worldwide
319640,Retinal macular dystrophy type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319635,Amyloidosis cutis dyschromia,Cases/families,Case(s),,27.0,Worldwide
319635,Amyloidosis cutis dyschromia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319605,X-linked mendelian susceptibility to mycobacterial diseases,Cases/families,Case(s),,13.0,Worldwide
319605,X-linked mendelian susceptibility to mycobacterial diseases,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,Cases/families,Case(s),,2.0,Worldwide
319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,Cases/families,Case(s),,1.0,Worldwide
319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319675,"Microcephalic primordial dwarfism, Dauber type",Cases/families,Case(s),,2.0,Worldwide
319675,"Microcephalic primordial dwarfism, Dauber type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319671,Alazami syndrome,Cases/families,Case(s),,10.0,Worldwide
319671,Alazami syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319276,Clear cell renal carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.99,Europe
319251,Rift valley fever,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
319319,Renal medullary carcinoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
319298,Papillary renal cell carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Europe
319303,Chromophobe renal cell carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
319332,Autosomal recessive myogenic arthrogryposis multiplex congenita,Cases/families,Family(ies),,1.0,Worldwide
319332,Autosomal recessive myogenic arthrogryposis multiplex congenita,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319340,Carney complex-trismus-pseudocamptodactyly syndrome,Cases/families,Family(ies),,3.0,Worldwide
319340,Carney complex-trismus-pseudocamptodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319504,Combined oxidative phosphorylation defect type 8,Cases/families,Case(s),,7.0,Worldwide
319504,Combined oxidative phosphorylation defect type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319213,Lujo hemorrhagic fever,Cases/families,Case(s),,5.0,Worldwide
319213,Lujo hemorrhagic fever,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319195,Chondroectodermal dysplasia with night blindness,Cases/families,Case(s),,4.0,Worldwide
319195,Chondroectodermal dysplasia with night blindness,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319199,Autosomal recessive spastic paraplegia type 53,Cases/families,Case(s),,9.0,Worldwide
319199,Autosomal recessive spastic paraplegia type 53,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319218,Ebola hemorrhagic fever,Cases/families,Case(s),,28220.0,Worldwide
319218,Ebola hemorrhagic fever,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
319218,Ebola hemorrhagic fever,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
319160,Congenital myopathy with internal nuclei and atypical cores,Cases/families,Case(s),,5.0,Worldwide
319160,Congenital myopathy with internal nuclei and atypical cores,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319171,Distal 17p13.1 microdeletion syndrome,Cases/families,Case(s),,16.0,Worldwide
319171,Distal 17p13.1 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319189,Familial cortical myoclonus,Cases/families,Case(s),,11.0,Worldwide
319189,Familial cortical myoclonus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319192,Diencephalic-mesencephalic junction dysplasia,Cases/families,Case(s),,33.0,Worldwide
319192,Diencephalic-mesencephalic junction dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
319182,Wiedemann-Steiner syndrome,Cases/families,Case(s),,84.0,Worldwide
319182,Wiedemann-Steiner syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
317428,Combined immunodeficiency due to ORAI1 deficiency,Cases/families,Case(s),,6.0,Worldwide
317428,Combined immunodeficiency due to ORAI1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,Cases/families,Case(s),,2.0,Worldwide
317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
317430,Combined immunodeficiency due to STIM1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
317473,Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency,Cases/families,Case(s),,39.0,Worldwide
317473,Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
317476,XMEN,Cases/families,Case(s),,7.0,Worldwide
317476,XMEN,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
315311,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",Point prevalence,Value and class,1-9 / 100 000,2.5,Europe
315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",Prevalence at birth,Value and class,1-9 / 100 000,7.5,Europe
315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",Point prevalence,Value and class,1-9 / 100 000,7.5,Europe
314993,Cataract-congenital heart disease-neural tube defect syndrome,Cases/families,Case(s),,2.0,Worldwide
314993,Cataract-congenital heart disease-neural tube defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314978,X-linked non progressive cerebellar ataxia,Cases/families,Family(ies),,3.0,Worldwide
314978,X-linked non progressive cerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314970,Lymphocytic hypereosinophilic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
314962,Secondary hypereosinophilic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
314950,Primary hypereosinophilic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
314918,Mild Canavan disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
314911,Severe Canavan disease,Point prevalence,Class only,Unknown,0.0,Worldwide
314701,Primary systemic amyloidosis,Point prevalence,Value and class,1-5 / 10 000,30.0,Europe
314679,Cerebrofacioarticular syndrome,Cases/families,Case(s),,9.0,Worldwide
314679,Cerebrofacioarticular syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314667,TMEM165-CDG,Cases/families,Case(s),,6.0,Worldwide
314667,TMEM165-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314689,Combined immunodeficiency due to STK4 deficiency,Cases/families,Case(s),,7.0,Worldwide
314689,Combined immunodeficiency due to STK4 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314684,Primary bone lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
314652,Variant ABeta2M amyloidosis,Cases/families,Case(s),,5.0,Worldwide
314652,Variant ABeta2M amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314647,Non-progressive cerebellar ataxia with intellectual disability,Cases/families,Case(s),,15.0,Worldwide
314647,Non-progressive cerebellar ataxia with intellectual disability,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314662,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,Cases/families,Case(s),,10.0,Worldwide
314662,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314655,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,Cases/families,Case(s),,7.0,Worldwide
314655,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314629,CLN11 disease,Cases/families,Case(s),,22.0,Worldwide
314629,CLN11 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314621,Duplication of the pituitary gland,Cases/families,Case(s),,38.0,Worldwide
314621,Duplication of the pituitary gland,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,Cases/families,Case(s),,8.0,Worldwide
314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314632,CLN12 disease,Cases/families,Case(s),,4.0,Worldwide
314632,CLN12 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314802,Short stature due to partial GHR deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
314811,Short stature due to GHSR deficiency,Cases/families,Case(s),,8.0,Worldwide
314811,Short stature due to GHSR deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314889,Autosomal dominant proximal renal tubular acidosis,Cases/families,Family(ies),,1.0,Worldwide
314889,Autosomal dominant proximal renal tubular acidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314777,Familial isolated pituitary adenoma,Cases/families,Case(s),,150.0,Worldwide
314777,Familial isolated pituitary adenoma,Point prevalence,Class only,Unknown,0.0,Worldwide
314795,SHOX-related short stature,Point prevalence,Class only,Unknown,0.0,Worldwide
314769,Somatomammotropinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
314718,Lethal arteriopathy syndrome due to fibulin-4 deficiency,Cases/families,Case(s),,22.0,Worldwide
314718,Lethal arteriopathy syndrome due to fibulin-4 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314721,Atypical dentin dysplasia due to SMOC2 deficiency,Cases/families,Case(s),,4.0,Worldwide
314721,Atypical dentin dysplasia due to SMOC2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370127,Medich giant platelet syndrome,Cases/families,Case(s),,3.0,Worldwide
370127,Medich giant platelet syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370103,"Primary dystonia, DYT17 type",Cases/families,Case(s),,3.0,Worldwide
370103,"Primary dystonia, DYT17 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370097,Oculocutaneous albinism type 6,Cases/families,Case(s),,1.0,Worldwide
370097,Oculocutaneous albinism type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370091,Oculocutaneous albinism type 5,Cases/families,Family(ies),,1.0,Worldwide
370091,Oculocutaneous albinism type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370396,Small cell carcinoma of the ovary,Cases/families,Case(s),,300.0,Worldwide
370396,Small cell carcinoma of the ovary,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370348,Peripheral primitive neuroectodermal tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.077,Austria
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.056,Belgium
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Bulgaria
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.023,Croatia
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.052,Czech Republic
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.083,Estonia
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.071,Germany
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.055,Ireland
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.068,Italy
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.043,Latvia
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.05,Lithuania
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.076,Norway
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.018,Poland
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.092,Portugal
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.081,Slovenia
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.087,Spain
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.056,Switzerland
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.089,Netherlands
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.058,United Kingdom
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.112,Finland
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.126,Malta
370334,Extraskeletal Ewing sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.106,Slovakia
370131,White platelet syndrome,Cases/families,Family(ies),,1.0,Worldwide
370131,White platelet syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370046,Didymosis aplasticosebacea,Cases/families,Case(s),,18.0,Worldwide
370046,Didymosis aplasticosebacea,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370034,Familial syringomyelia,Point prevalence,Class only,Unknown,0.0,Worldwide
370039,Angora hair nevus,Cases/families,Case(s),,2.0,Worldwide
370039,Angora hair nevus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,Cases/families,Case(s),,7.0,Worldwide
370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,Point prevalence,Class only,Unknown,0.0,Worldwide
370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",Cases/families,Case(s),,2.0,Worldwide
370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370088,Acute infantile liver failure-multisystemic involvement syndrome,Cases/families,Case(s),,6.0,Worldwide
370088,Acute infantile liver failure-multisystemic involvement syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370076,Fetal carbamazepine syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
370079,Proximal 16p11.2 microduplication syndrome,Cases/families,Case(s),,21.0,Worldwide
370079,Proximal 16p11.2 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370052,SCALP syndrome,Cases/families,Case(s),,4.0,Worldwide
370052,SCALP syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
371007,Congenital muscular dystrophy with hyperlaxity,Cases/families,Case(s),,14.0,Worldwide
371007,Congenital muscular dystrophy with hyperlaxity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370997,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,Cases/families,Case(s),,2.0,Worldwide
370997,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370921,STT3A-CDG,Cases/families,Case(s),,2.0,Worldwide
370921,STT3A-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370924,STT3B-CDG,Cases/families,Case(s),,1.0,Worldwide
370924,STT3B-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370927,SSR4-CDG,Cases/families,Case(s),,9.0,Worldwide
370927,SSR4-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370930,XYLT1-CDG,Cases/families,Case(s),,2.0,Worldwide
370930,XYLT1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370968,Congenital muscular dystrophy with intellectual disability,Point prevalence,Class only,Not yet documented,0.0,Worldwide
370968,Congenital muscular dystrophy with intellectual disability,Annual incidence,Class only,Unknown,0.0,Worldwide
370980,Congenital muscular dystrophy without intellectual disability,Point prevalence,Class only,Unknown,0.0,Worldwide
370980,Congenital muscular dystrophy without intellectual disability,Annual incidence,Class only,Unknown,0.0,Worldwide
370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,Cases/families,Case(s),,8.0,Worldwide
370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369929,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,Cases/families,Case(s),,2.0,Worldwide
369929,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369920,Pontocerebellar hypoplasia type 9,Cases/families,Case(s),,14.0,Worldwide
369920,Pontocerebellar hypoplasia type 9,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369942,CADDS,Cases/families,Case(s),,4.0,Worldwide
369942,CADDS,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,Cases/families,Case(s),,7.0,Worldwide
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369955,"Methylmalonic acidemia with homocystinuria, type cblJ",Cases/families,Case(s),,2.0,Worldwide
369955,"Methylmalonic acidemia with homocystinuria, type cblJ",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369950,Intellectual disability-seizures-macrocephaly-obesity syndrome,Cases/families,Case(s),,7.0,Worldwide
369950,Intellectual disability-seizures-macrocephaly-obesity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,Cases/families,Case(s),,14.0,Worldwide
369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369962,"Methylmalonic acidemia with homocystinuria, type cblX",Cases/families,Case(s),,18.0,Worldwide
369962,"Methylmalonic acidemia with homocystinuria, type cblX",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369979,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,Cases/families,Case(s),,2.0,Worldwide
369979,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,Cases/families,Case(s),,3.0,Worldwide
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
370002,Focal palmoplantar keratoderma with joint keratoses,Point prevalence,Class only,Unknown,0.0,Worldwide
369999,Diffuse palmoplantar keratoderma with painful fissures,Point prevalence,Class only,Unknown,0.0,Worldwide
370010,Intellectual disability-facial dysmorphism-hand anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
370010,Intellectual disability-facial dysmorphism-hand anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369837,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,Cases/families,Case(s),,4.0,Worldwide
369837,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369840,TRAPPC11-related limb-girdle muscular dystrophy R18,Cases/families,Case(s),,3.0,Worldwide
369840,TRAPPC11-related limb-girdle muscular dystrophy R18,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369847,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,Cases/families,Case(s),,5.0,Worldwide
369847,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Cases/families,Case(s),,16.0,Worldwide
369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,Cases/families,Case(s),,16.0,Worldwide
369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,Cases/families,Case(s),,3.0,Worldwide
369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
369873,Obesity due to SIM1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
369881,2p21 microdeletion syndrome without cystinuria,Cases/families,Case(s),,2.0,Worldwide
369881,2p21 microdeletion syndrome without cystinuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369886,Homozygous 2p21 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,Cases/families,Case(s),,70.0,Worldwide
369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",Cases/families,Case(s),,20.0,Worldwide
369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
369913,Combined oxidative phosphorylation defect type 17,Cases/families,Family(ies),,20.0,Worldwide
369913,Combined oxidative phosphorylation defect type 17,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
364055,Severe early-childhood-onset retinal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
364028,X-linked intellectual disability due to GRIA3 mutations,Cases/families,Case(s),,14.0,Worldwide
364028,X-linked intellectual disability due to GRIA3 mutations,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
364033,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,Point prevalence,Class only,Unknown,0.0,Europe
772,Infantile Refsum disease,Point prevalence,Class only,Unknown,0.0,Worldwide
1194,TMEM70-related mitochondrial encephalo-cardio-myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
363999,Non-immune hydrops fetalis,Prevalence at birth,Value and class,1-5 / 10 000,42.0,Worldwide
363999,Non-immune hydrops fetalis,Point prevalence,Class only,Unknown,0.0,Worldwide
363999,Non-immune hydrops fetalis,Point prevalence,Value and class,>1 / 1000,300.0,Thailand
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,1-5 / 10 000,4.22,Europe
1048,Isolated anencephaly/exencephaly,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,1-5 / 10 000,20.6,United States
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,>1 / 1000,210.0,India
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,>1 / 1000,120.0,"Iran, Islamic Republic of"
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,1-5 / 10 000,58.0,Singapore
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,>1 / 1000,1.4,Africa
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,6-9 / 10 000,8.6,Australia
1048,Isolated anencephaly/exencephaly,Prevalence at birth,Value and class,1-9 / 100 000,5.1,Worldwide
364013,Immune hydrops fetalis,Point prevalence,Class only,Unknown,0.0,Worldwide
364013,Immune hydrops fetalis,Prevalence at birth,Value and class,1-5 / 10 000,33.3,United Kingdom
363989,Familial benign flecked retina,Cases/families,Case(s),,12.0,Worldwide
363989,Familial benign flecked retina,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,18.6,Europe
823,Spina bifida and other spinal dysraphisms,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
823,Spina bifida and other spinal dysraphisms,Point prevalence,Value and class,1-5 / 10 000,50.0,France
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,24.8,United States
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Austria
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,17.5,Belgium
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,11.4,Croatia
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,21.3,Denmark
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,19.6,France
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,17.8,Germany
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,14.4,Hungary
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,50.6,Ireland
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,12.7,Italy
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,24.9,Malta
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,17.5,Netherlands
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,14.7,Norway
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,24.4,Poland
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,18.9,Portugal
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Spain
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Switzerland
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,13.1,United Kingdom
823,Spina bifida and other spinal dysraphisms,Prevalence at birth,Value and class,1-5 / 10 000,41.3,Ukraine
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,Cases/families,Case(s),,7.0,Worldwide
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363976,Giant cell tumor of bone,Annual incidence,Value and class,1-9 / 1 000 000,0.1404,Worldwide
363976,Giant cell tumor of bone,Point prevalence,Class only,Unknown,0.0,Worldwide
363981,Charcot-Marie-Tooth disease type 4B3,Cases/families,Case(s),,3.0,Worldwide
363981,Charcot-Marie-Tooth disease type 4B3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363969,Autosomal recessive cerebral atrophy,Cases/families,Case(s),,4.0,Worldwide
363969,Autosomal recessive cerebral atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363965,Koolen-De Vries syndrome due to a point mutation,Cases/families,Case(s),,4.0,Worldwide
363965,Koolen-De Vries syndrome due to a point mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363958,17q21.31 microdeletion syndrome,Point prevalence,Value and class,1-9 / 100 000,1.82,Europe
363746,Balint syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
363741,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,Cases/families,Family(ies),,1.0,Worldwide
363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
363722,Alexander disease type II,Point prevalence,Class only,Unknown,0.0,Worldwide
363717,Alexander disease type I,Point prevalence,Class only,Unknown,0.0,Worldwide
363710,Spinocerebellar ataxia type 37,Cases/families,Case(s),,9.0,Worldwide
363710,Spinocerebellar ataxia type 37,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363705,Craniofaciofrontodigital syndrome,Cases/families,Case(s),,4.0,Worldwide
363705,Craniofaciofrontodigital syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,Cases/families,Family(ies),,4.0,Worldwide
363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,Cases/families,Case(s),,4.0,Worldwide
363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363680,2p13.2 microdeletion syndrome,Cases/families,Case(s),,2.0,Worldwide
363680,2p13.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363677,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Cases/families,Case(s),,22.0,Worldwide
363677,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
364577,Intellectual disability-brachydactyly-Pierre Robin syndrome,Cases/families,Case(s),,4.0,Worldwide
364577,Intellectual disability-brachydactyly-Pierre Robin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
364198,Bipartite talus,Cases/families,Case(s),,23.0,Worldwide
364198,Bipartite talus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363417,Temtamy preaxial brachydactyly syndrome,Cases/families,Case(s),,18.0,Worldwide
363417,Temtamy preaxial brachydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,Cases/families,Case(s),,3.0,Worldwide
363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,Cases/families,Case(s),,13.0,Worldwide
363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363429,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,Cases/families,Case(s),,17.0,Worldwide
363429,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,Cases/families,Case(s),,7.0,Worldwide
363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363424,Multiple mitochondrial dysfunctions syndrome type 3,Cases/families,Case(s),,2.0,Worldwide
363424,Multiple mitochondrial dysfunctions syndrome type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363396,High myopia-sensorineural deafness syndrome,Cases/families,Case(s),,7.0,Worldwide
363396,High myopia-sensorineural deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363400,Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome,Cases/families,Case(s),,10.0,Worldwide
363400,Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363203,Ring chromosome syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Worldwide
363618,LMNA-related cardiocutaneous progeria syndrome,Cases/families,Case(s),,5.0,Worldwide
363618,LMNA-related cardiocutaneous progeria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363623,GMPPB-related limb-girdle muscular dystrophy R19,Cases/families,Case(s),,2.0,Worldwide
363623,GMPPB-related limb-girdle muscular dystrophy R19,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363649,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,Cases/families,Case(s),,21.0,Worldwide
363649,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363654,X-linked parkinsonism-spasticity syndrome,Cases/families,Case(s),,5.0,Worldwide
363654,X-linked parkinsonism-spasticity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363659,20q11.2 microduplication syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,Cases/families,Case(s),,5.0,Worldwide
363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,Cases/families,Case(s),,6.0,Worldwide
363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363549,Acute encephalopathy with biphasic seizures and late reduced diffusion,Cases/families,Case(s),,283.0,Worldwide
363549,Acute encephalopathy with biphasic seizures and late reduced diffusion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363558,New-onset refractory status epilepticus,Point prevalence,Class only,Unknown,0.0,Worldwide
363567,Acute encephalopathy with inflammation-mediated status epilepticus,Point prevalence,Class only,Unknown,0.0,Worldwide
363579,Extragonadal germ cell tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Europe
363611,CTCF-related neurodevelopmental disorder,Cases/families,Case(s),,5.0,Worldwide
363611,CTCF-related neurodevelopmental disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363494,Non-seminomatous germ cell tumor of testis,Annual incidence,Value and class,1-9 / 100 000,1.21,Europe
363494,Non-seminomatous germ cell tumor of testis,Lifetime Prevalence,Value and class,1-5 / 10 000,33.53,Europe
363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,Cases/families,Case(s),,12.0,Worldwide
363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",Cases/families,Case(s),,3.0,Worldwide
363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363528,Intellectual disability-strabismus syndrome,Cases/families,Case(s),,34.0,Worldwide
363528,Intellectual disability-strabismus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,Cases/families,Case(s),,4.0,Worldwide
363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363454,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Cases/families,Case(s),,60.0,Worldwide
363454,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363447,Autosomal dominant childhood-onset proximal spinal muscular atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
363447,Autosomal dominant childhood-onset proximal spinal muscular atrophy,Cases/families,Case(s),,97.0,Worldwide
363478,Paratesticular adenocarcinoma,Lifetime Prevalence,Value and class,<1 / 1 000 000,0.01,Europe
363478,Paratesticular adenocarcinoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
363478,Paratesticular adenocarcinoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Austria
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.004,Belgium
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Croatia
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,Czech Republic
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,Germany
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Ireland
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,Italy
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Latvia
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Spain
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,Netherlands
363478,Paratesticular adenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,United Kingdom
363472,Tumor of testis and paratestis,Annual incidence,Value and class,1-9 / 100 000,3.15,Europe
363472,Tumor of testis and paratestis,Lifetime Prevalence,Value and class,6-9 / 10 000,87.77,Europe
363472,Tumor of testis and paratestis,Point prevalence,Class only,Unknown,0.0,Worldwide
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
363489,Sex cord-stromal tumor of testis,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.44,Europe
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.049,Austria
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.048,Belgium
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.01,Bulgaria
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.034,Croatia
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.016,Czech Republic
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.018,Estonia
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.012,Finland
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Germany
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.018,Ireland
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.027,Italy
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.016,Latvia
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.008,Lithuania
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.022,Norway
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.013,Poland
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.01,Portugal
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.037,Slovakia
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.006,Slovenia
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.021,Spain
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.023,Switzerland
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.012,Netherlands
363489,Sex cord-stromal tumor of testis,Annual incidence,Value and class,<1 / 1 000 000,0.023,United Kingdom
363483,Testicular teratoma,Lifetime Prevalence,Value and class,<1 / 1 000 000,0.04,Europe
363483,Testicular teratoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
357175,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
357175,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357329,Combined immunodeficiency due to IL21R deficiency,Cases/families,Case(s),,6.0,Worldwide
357329,Combined immunodeficiency due to IL21R deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357332,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,Cases/families,Case(s),,26.0,Worldwide
357332,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357220,Primary essential cutis verticis gyrata,Point prevalence,Class only,Unknown,0.0,Worldwide
357237,Combined immunodeficiency due to CARD11 deficiency,Cases/families,Case(s),,3.0,Worldwide
357237,Combined immunodeficiency due to CARD11 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357502,Idiopathic nephrotic syndrome,Point prevalence,Class only,Unknown,0.0,Europe
356978,"D,L-2-hydroxyglutaric aciduria",Cases/families,Case(s),,13.0,Worldwide
356978,"D,L-2-hydroxyglutaric aciduria",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
356961,SLC35A2-CDG,Cases/families,Case(s),,4.0,Worldwide
356961,SLC35A2-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357008,Hemolytic uremic syndrome with DGKE deficiency,Cases/families,Case(s),,47.0,Worldwide
357008,Hemolytic uremic syndrome with DGKE deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357001,19p13.13 microdeletion syndrome,Cases/families,Case(s),,7.0,Worldwide
357001,19p13.13 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
356996,ANK3-related intellectual disability-sleep disturbance syndrome,Cases/families,Case(s),,5.0,Worldwide
356996,ANK3-related intellectual disability-sleep disturbance syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357043,Amyotrophic lateral sclerosis type 4,Cases/families,Case(s),,70.0,Worldwide
357043,Amyotrophic lateral sclerosis type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357034,Non-hereditary retinoblastoma,Annual incidence,Value and class,<1 / 1 000 000,0.038,Europe
357034,Non-hereditary retinoblastoma,Point prevalence,Class only,Unknown,0.0,Worldwide
357027,Hereditary retinoblastoma,Point prevalence,Class only,Unknown,0.0,Worldwide
357064,Autosomal recessive cutis laxa type 2B,Cases/families,Case(s),,16.0,Worldwide
357064,Autosomal recessive cutis laxa type 2B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357058,Autosomal recessive cutis laxa type 2A,Cases/families,Case(s),,26.0,Worldwide
357058,Autosomal recessive cutis laxa type 2A,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357158,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,Cases/families,Case(s),,2.0,Worldwide
357158,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
357154,Oral submucous fibrosis,Point prevalence,Class only,Unknown,0.0,Worldwide
352654,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,Cases/families,Case(s),,6.0,Worldwide
352654,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,Cases/families,Case(s),,19.0,Worldwide
352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352657,Hereditary benign intraepithelial dyskeratosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
352641,Autosomal recessive cerebellar ataxia with late-onset spasticity,Cases/families,Case(s),,10.0,Worldwide
352641,Autosomal recessive cerebellar ataxia with late-onset spasticity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352636,Phalangeal microgeodic syndrome,Cases/families,Case(s),,50.0,Worldwide
352636,Phalangeal microgeodic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352649,Brain dopamine-serotonin vesicular transport disease,Cases/families,Case(s),,8.0,Worldwide
352649,Brain dopamine-serotonin vesicular transport disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352596,Progressive myoclonic epilepsy with dystonia,Cases/families,Case(s),,5.0,Worldwide
352596,Progressive myoclonic epilepsy with dystonia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352629,16q24.1 microdeletion syndrome,Cases/families,Case(s),,42.0,Worldwide
352629,16q24.1 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352577,Bainbridge-Ropers syndrome,Cases/families,Case(s),,77.0,Worldwide
352577,Bainbridge-Ropers syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352587,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Cases/families,Case(s),,7.0,Worldwide
352587,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352582,Familial infantile myoclonic epilepsy,Cases/families,Case(s),,7.0,Worldwide
352582,Familial infantile myoclonic epilepsy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352731,Oculocutaneous albinism type 1,Point prevalence,Value and class,1-9 / 100 000,2.5,Worldwide
352734,Minimal pigment oculocutaneous albinism type 1,Cases/families,Case(s),,10.0,Worldwide
352734,Minimal pigment oculocutaneous albinism type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352737,Temperature-sensitive oculocutaneous albinism type 1,Cases/families,Case(s),,10.0,Worldwide
352737,Temperature-sensitive oculocutaneous albinism type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352709,CLN13 disease,Cases/families,Case(s),,6.0,Worldwide
352709,CLN13 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,Cases/families,Case(s),,11.0,Worldwide
352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352718,Progressive retinal dystrophy due to retinol transport defect,Cases/families,Case(s),,5.0,Worldwide
352718,Progressive retinal dystrophy due to retinol transport defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352723,Attenuated Chédiak-Higashi syndrome,Cases/families,Case(s),,100.0,Worldwide
352723,Attenuated Chédiak-Higashi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
352665,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,Cases/families,Case(s),,2.0,Worldwide
352665,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,Cases/families,Case(s),,8.0,Worldwide
352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352675,X-linked Charcot-Marie-Tooth disease type 6,Cases/families,Case(s),,8.0,Worldwide
352675,X-linked Charcot-Marie-Tooth disease type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352682,Cobblestone lissencephaly without muscular or ocular involvement,Cases/families,Case(s),,6.0,Worldwide
352682,Cobblestone lissencephaly without muscular or ocular involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
353253,Burning mouth syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
353253,Burning mouth syndrome,Point prevalence,Class only,Unknown,0.0,Europe
353220,Familial primary localized cutaneous amyloidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
353217,Epileptic encephalopathy with global cerebral demyelination,Cases/families,Case(s),,4.0,Worldwide
353217,Epileptic encephalopathy with global cerebral demyelination,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352763,Scleredema,Point prevalence,Class only,Unknown,0.0,Worldwide
352745,Oculocutaneous albinism type 7,Cases/families,Case(s),,9.0,Worldwide
352745,Oculocutaneous albinism type 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
353344,Idiopathic macular telangiectasia type 1,Cases/families,Case(s),,24.0,Worldwide
353344,Idiopathic macular telangiectasia type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
353351,Idiopathic macular telangiectasia type 3,Cases/families,Case(s),,9.0,Worldwide
353351,Idiopathic macular telangiectasia type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
353334,Congenital retinal arteriovenous communication,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
353320,"Pyruvate carboxylase deficiency, benign type",Cases/families,Case(s),,5.0,Worldwide
353320,"Pyruvate carboxylase deficiency, benign type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
353327,Congenital myasthenic syndrome with glycosylation defect,Point prevalence,Class only,Unknown,0.0,Worldwide
353308,"Pyruvate carboxylase deficiency, infantile type",Point prevalence,Class only,Unknown,0.0,Worldwide
353314,"Pyruvate carboxylase deficiency, severe neonatal type",Point prevalence,Class only,Unknown,0.0,Worldwide
353298,Roifman syndrome,Cases/families,Case(s),,17.0,Worldwide
353298,Roifman syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,Cases/families,Case(s),,34.0,Worldwide
353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352403,Spectrin-associated autosomal recessive cerebellar ataxia,Cases/families,Family(ies),,2.0,Worldwide
352403,Spectrin-associated autosomal recessive cerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,Cases/families,Case(s),,2.0,Worldwide
352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352328,MEGDEL syndrome,Cases/families,Case(s),,67.0,Worldwide
352328,MEGDEL syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,Cases/families,Case(s),,6.0,Worldwide
352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352530,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
352530,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,Cases/families,Case(s),,2.0,Worldwide
352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352540,Oncogenic osteomalacia,Cases/families,Case(s),,400.0,Worldwide
352540,Oncogenic osteomalacia,Point prevalence,Value and class,1-9 / 1 000 000,0.7,Europe
352479,ISPD-related limb-girdle muscular dystrophy R20,Cases/families,Case(s),,8.0,Worldwide
352479,ISPD-related limb-girdle muscular dystrophy R20,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352470,DNA2-related mitochondrial DNA deletion syndrome,Cases/families,Case(s),,4.0,Worldwide
352470,DNA2-related mitochondrial DNA deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
352490,Autism spectrum disorder due to AUTS2 deficiency,Cases/families,Case(s),,60.0,Worldwide
352490,Autism spectrum disorder due to AUTS2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
294422,Chronic intestinal failure,Prevalence at birth,Value and class,6-9 / 10 000,86.0,Italy
294422,Chronic intestinal failure,Point prevalence,Value and class,1-5 / 10 000,42.4691,Italy
293987,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,Cases/families,Case(s),,96.0,Worldwide
293987,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
294016,Microcephaly-capillary malformation syndrome,Cases/families,Case(s),,10.0,Worldwide
294016,Microcephaly-capillary malformation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
294023,Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome,Cases/families,Case(s),,3.0,Worldwide
294023,Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
294026,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,Cases/families,Case(s),,2.0,Worldwide
294026,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,Cases/families,Case(s),,5.0,Worldwide
293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293967,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,Cases/families,Case(s),,4.0,Worldwide
293967,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293978,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,Cases/families,Case(s),,7.0,Worldwide
293978,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293958,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,Cases/families,Case(s),,13.0,Worldwide
293958,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,Cases/families,Case(s),,5.0,Worldwide
293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293948,1p21.3 microdeletion syndrome,Cases/families,Case(s),,9.0,Worldwide
293948,1p21.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293939,Distal Xq28 microduplication syndrome,Cases/families,Case(s),,9.0,Worldwide
293939,Distal Xq28 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293936,EDICT syndrome,Cases/families,Family(ies),,4.0,Worldwide
293936,EDICT syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,Cases/families,Case(s),,5.0,Worldwide
293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,Cases/families,Case(s),,16.0,Worldwide
293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293843,3MC syndrome,Cases/families,Case(s),,32.0,Worldwide
293843,3MC syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,Cases/families,Family(ies),,30.0,Worldwide
293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293825,Congenital dyserythropoietic anemia type IV,Cases/families,Case(s),,4.0,Worldwide
293825,Congenital dyserythropoietic anemia type IV,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293812,Fixed drug eruption,Point prevalence,Class only,Unknown,0.0,Worldwide
293807,Ketamine-induced biliary dilatation,Cases/families,Case(s),,2.0,Worldwide
293807,Ketamine-induced biliary dilatation,Point prevalence,Class only,Unknown,0.0,Worldwide
293725,"Blepharophimosis-intellectual disability syndrome, Verloes type",Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
293642,Blepharophimosis-intellectual disability syndrome,Cases/families,Case(s),,58.0,Worldwide
293642,Blepharophimosis-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293707,"Blepharophimosis-intellectual disability syndrome, MKB type",Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
295044,Macrodactyly of fingers,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
295047,Macrodactyly of toes,Point prevalence,Value and class,1-9 / 100 000,3.8,Worldwide
295036,Congenital patella dislocation,Cases/families,Case(s),,7.0,Worldwide
295036,Congenital patella dislocation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
295000,Amniotic band syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.3,Europe
295000,Amniotic band syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
294975,Isolated absence of upper arm and forearm with hand present,Prevalence at birth,Value and class,1-9 / 1 000 000,0.62,Worldwide
294975,Isolated absence of upper arm and forearm with hand present,Point prevalence,Class only,Unknown,0.0,Worldwide
294963,Popliteal pterygium syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Europe
294971,Isolated tetra-amelia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
289863,Atypical glycine encephalopathy,Cases/families,Case(s),,20.0,Worldwide
289863,Atypical glycine encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
289877,Transient hyperammonemia of the newborn,Point prevalence,Class only,Unknown,0.0,Worldwide
289916,Vitamin B12-unresponsive methylmalonic acidemia type mut0,Point prevalence,Class only,Unknown,0.0,Worldwide
289661,Epstein-Barr virus-positive diffuse large B-cell lymphoma,Annual incidence,Class only,Unknown,0.0,Worldwide
289661,Epstein-Barr virus-positive diffuse large B-cell lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
289857,Neonatal glycine encephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
289860,Infantile glycine encephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
289560,Mitochondrial membrane protein-associated neurodegeneration,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Worldwide
289553,Dysmorphism-conductive hearing loss-heart defect syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
289548,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
289539,BAP1-related tumor predisposition syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
289601,Hereditary arterial and articular multiple calcification syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
289601,Hereditary arterial and articular multiple calcification syndrome,Cases/families,Case(s),,16.0,Worldwide
289596,Juvenile nasopharyngeal angiofibroma,Point prevalence,Class only,Unknown,0.0,Worldwide
289596,Juvenile nasopharyngeal angiofibroma,Annual incidence,Value and class,1-9 / 1 000 000,0.6666,Worldwide
289586,Exfoliative ichthyosis,Point prevalence,Class only,Unknown,0.0,Worldwide
293355,Methylmalonic acidemia without homocystinuria,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
293355,Methylmalonic acidemia without homocystinuria,Point prevalence,Value and class,<1 / 1 000 000,0.0555,China
293375,Grayson-Wilbrandt corneal dystrophy,Cases/families,Family(ies),,1.0,Worldwide
293375,Grayson-Wilbrandt corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293381,Epithelial recurrent erosion dystrophy,Cases/families,Case(s),,186.0,Worldwide
293381,Epithelial recurrent erosion dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
293462,Pre-Descemet corneal dystrophy,Cases/families,Case(s),,5.0,Worldwide
293462,Pre-Descemet corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293603,Congenital hereditary endothelial dystrophy type II,Point prevalence,Class only,Unknown,0.0,Worldwide
293621,X-linked endothelial corneal dystrophy,Cases/families,Case(s),,35.0,Worldwide
293621,X-linked endothelial corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
811,Shwachman-Diamond syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.59,Italy
811,Shwachman-Diamond syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,United Kingdom
811,Shwachman-Diamond syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Puerto rico
811,Shwachman-Diamond syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Canada
811,Shwachman-Diamond syndrome,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Europe
811,Shwachman-Diamond syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Worldwide
811,Shwachman-Diamond syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.28,Worldwide
293168,Infantile-onset ascending hereditary spastic paralysis,Cases/families,Family(ies),,17.0,Worldwide
293168,Infantile-onset ascending hereditary spastic paralysis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Cases/families,Case(s),,7.0,Worldwide
293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
428,Autosomal dominant hypocalcemia,Point prevalence,Value and class,1-9 / 1 000 000,0.161,Denmark
428,Autosomal dominant hypocalcemia,Point prevalence,Class only,Unknown,0.0,Worldwide
428,Autosomal dominant hypocalcemia,Point prevalence,Value and class,1-9 / 100 000,3.9,United States
293181,Epilepsy of infancy with migrating focal seizures,Cases/families,Case(s),,114.0,Worldwide
293181,Epilepsy of infancy with migrating focal seizures,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
293181,Epilepsy of infancy with migrating focal seizures,Point prevalence,Value and class,1-9 / 1 000 000,0.11,United Kingdom
293181,Epilepsy of infancy with migrating focal seizures,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,United Kingdom
2298,Insulin-resistance syndrome type B,Point prevalence,Class only,Unknown,0.0,Worldwide
293173,Acute generalized exanthematous pustulosis,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Worldwide
293173,Acute generalized exanthematous pustulosis,Annual incidence,Value and class,<1 / 1 000 000,0.035,Israel
293173,Acute generalized exanthematous pustulosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2207,Familial primary hyperparathyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
293199,Pleomorphic rhabdomyosarcoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
293199,Pleomorphic rhabdomyosarcoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
393,"46,XX testicular difference of sex development",Point prevalence,Value and class,1-9 / 100 000,2.5,Worldwide
293202,Epithelioid sarcoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
293202,Epithelioid sarcoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
293202,Epithelioid sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.04,United States
293284,Tetrahydrobiopterin-responsive phenylketonuria,Point prevalence,Class only,Unknown,0.0,Worldwide
293208,Celiac artery compression syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
2459,Mansonelliasis,Point prevalence,Class only,Unknown,0.0,Worldwide
2459,Mansonelliasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2404,Loiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2404,Loiasis,Point prevalence,Class only,>1 / 1000,0.0,Specific population
2394,Pyruvate dehydrogenase E3 deficiency,Cases/families,Case(s),,20.0,Worldwide
2394,Pyruvate dehydrogenase E3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
2356,Arachnoid cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
829,Adult-onset Still disease,Annual incidence,Value and class,1-9 / 1 000 000,0.16,France
829,Adult-onset Still disease,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Japan
829,Adult-onset Still disease,Point prevalence,Value and class,1-9 / 100 000,3.9,Japan
829,Adult-onset Still disease,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Norway
829,Adult-onset Still disease,Point prevalence,Value and class,1-9 / 100 000,6.9,Norway
829,Adult-onset Still disease,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
829,Adult-onset Still disease,Annual incidence,Value and class,1-9 / 1 000 000,0.62,Turkey
829,Adult-onset Still disease,Point prevalence,Value and class,1-9 / 100 000,6.77,Turkey
1929,Rasmussen subacute encephalitis,Cases/families,Case(s),,100.0,Worldwide
1929,Rasmussen subacute encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
1183,Opsoclonus-myoclonus syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
1183,Opsoclonus-myoclonus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1183,Opsoclonus-myoclonus syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.018,United Kingdom
2688,Adult idiopathic neutropenia,Annual incidence,Class only,Unknown,0.0,Worldwide
2688,Adult idiopathic neutropenia,Point prevalence,Class only,Unknown,0.0,Worldwide
2686,Cyclic neutropenia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
890,Hepatic veno-occlusive disease,Point prevalence,Class only,Unknown,0.0,Worldwide
176,Non-rhizomelic chondrodysplasia punctata,Point prevalence,Class only,Unknown,0.0,Worldwide
231,Dracunculiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
231,Dracunculiasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
2035,Lymphatic filariasis,Point prevalence,Class only,>1 / 1000,0.0,Specific population
2035,Lymphatic filariasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284448,CLIPPERS,Cases/families,Case(s),,50.0,Worldwide
284448,CLIPPERS,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284454,Acute zonal occult outer retinopathy,Cases/families,Case(s),,150.0,Worldwide
284454,Acute zonal occult outer retinopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
284460,Acute annular outer retinopathy,Cases/families,Case(s),,12.0,Worldwide
284460,Acute annular outer retinopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284426,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
284435,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
284984,Aneurysm-osteoarthritis syndrome,Cases/families,Case(s),,45.0,Worldwide
284984,Aneurysm-osteoarthritis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284979,Neonatal Marfan syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
289365,Familial vesicoureteral reflux,Point prevalence,Class only,Unknown,0.0,Worldwide
289347,Infective dermatitis associated with HTLV-1,Point prevalence,Class only,Unknown,0.0,Worldwide
289356,Primary non-gestational choriocarcinoma of ovary,Point prevalence,Class only,Unknown,0.0,Worldwide
289377,Early-onset myopathy with fatal cardiomyopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
289380,Myosclerosis,Point prevalence,Class only,Unknown,0.0,Worldwide
289290,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
289266,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,Point prevalence,Class only,Unknown,0.0,Worldwide
289326,Tropical spastic paraparesis,Point prevalence,Class only,Unknown,0.0,Worldwide
289307,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
289504,Combined malonic and methylmalonic acidemia,Annual incidence,Value and class,1-9 / 100 000,3.3,United States
289504,Combined malonic and methylmalonic acidemia,Point prevalence,Class only,Unknown,0.0,Worldwide
289499,Congenital cataract microcornea with corneal opacity,Point prevalence,Class only,Unknown,0.0,Worldwide
289494,4H leukodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
289494,4H leukodystrophy,Cases/families,Case(s),,200.0,Worldwide
289522,Microtriplication 11q24.1 syndrome,Cases/families,Case(s),,2.0,Worldwide
289522,Microtriplication 11q24.1 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
289513,12q15q21 microdeletion syndrome,Cases/families,Case(s),,6.0,Worldwide
289513,12q15q21 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
289465,Isolated congenital adermatoglyphia,Point prevalence,Class only,Unknown,0.0,Worldwide
289390,Primary Sjögren disease,Point prevalence,Value and class,1-5 / 10 000,11.343,France
289390,Primary Sjögren disease,Point prevalence,Value and class,1-5 / 10 000,48.99,Europe
289390,Primary Sjögren disease,Point prevalence,Value and class,6-9 / 10 000,86.398,Greece
289390,Primary Sjögren disease,Point prevalence,Value and class,1-5 / 10 000,49.745,Norway
289390,Primary Sjögren disease,Point prevalence,Value and class,1-5 / 10 000,45.47,Denmark
289390,Primary Sjögren disease,Annual incidence,Value and class,1-9 / 100 000,3.95,United States
289390,Primary Sjögren disease,Point prevalence,Value and class,1-5 / 10 000,37.15,"Taiwan, Province of China"
289390,Primary Sjögren disease,Point prevalence,Value and class,>1 / 1000,207.83,Turkey
289390,Primary Sjögren disease,Point prevalence,Value and class,1-5 / 10 000,30.91,Italy
289390,Primary Sjögren disease,Point prevalence,Value and class,>1 / 1000,165.98,Brazil
289390,Primary Sjögren disease,Annual incidence,Value and class,1-9 / 100 000,9.5,"Taiwan, Province of China"
289390,Primary Sjögren disease,Annual incidence,Value and class,1-9 / 100 000,5.3,Greece
289390,Primary Sjögren disease,Annual incidence,Value and class,1-9 / 100 000,3.9,Slovenia
289390,Primary Sjögren disease,Annual incidence,Value and class,1-9 / 100 000,6.92,Worldwide
289385,Malignancy diagnosed during pregnancy,Point prevalence,Class only,Unknown,0.0,Worldwide
289483,Intellectual disability-alacrima-achalasia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
289478,PASH syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
289478,PASH syndrome,Cases/families,Case(s),,36.0,Worldwide
289176,Autosomal recessive hypophosphatemic rickets,Point prevalence,Class only,Unknown,0.0,Worldwide
289157,Hypocalcemic vitamin D-dependent rickets,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
280921,Idiopathic panuveitis,Point prevalence,Value and class,1-9 / 100 000,2.0194,Europe
280921,Idiopathic panuveitis,Annual incidence,Value and class,1-9 / 1 000 000,0.5051,Europe
280921,Idiopathic panuveitis,Point prevalence,Value and class,1-5 / 10 000,16.0,United States
280921,Idiopathic panuveitis,Annual incidence,Value and class,1-9 / 100 000,3.6,United States
280898,Panuveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
280892,Posterior uveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
280886,Anterior uveitis,Point prevalence,Value and class,>1 / 1000,185.0,Denmark
280886,Anterior uveitis,Point prevalence,Class only,Unknown,0.0,Worldwide
281103,Keratinopathic ichthyosis,Point prevalence,Value and class,1-9 / 1 000 000,0.11,France
281097,Autosomal recessive congenital ichthyosis,Annual incidence,Value and class,1-9 / 1 000 000,0.5,United States
281097,Autosomal recessive congenital ichthyosis,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
281097,Autosomal recessive congenital ichthyosis,Point prevalence,Value and class,1-9 / 1 000 000,0.77,Spain
281097,Autosomal recessive congenital ichthyosis,Annual incidence,Value and class,1-9 / 100 000,1.1,Norway
281090,Syndromic recessive X-linked ichthyosis,Point prevalence,Value and class,1-9 / 100 000,1.3,Europe
281085,Inherited ichthyosis syndromic form,Point prevalence,Value and class,1-9 / 1 000 000,0.19,France
281082,Inherited non-syndromic ichthyosis,Point prevalence,Value and class,1-9 / 100 000,1.13,France
281190,Congenital reticular ichthyosiform erythroderma,Cases/families,Case(s),,40.0,Worldwide
281190,Congenital reticular ichthyosiform erythroderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
281201,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
281139,Annular epidermolytic ichthyosis,Cases/families,Family(ies),,7.0,Worldwide
281139,Annular epidermolytic ichthyosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
281122,Self-improving collodion baby,Cases/families,Case(s),,25.0,Worldwide
281122,Self-improving collodion baby,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
281127,Acral self-healing collodion baby,Cases/families,Case(s),,2.0,Worldwide
281127,Acral self-healing collodion baby,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280628,Familial progressive hyper- and hypopigmentation,Cases/families,Family(ies),,3.0,Worldwide
280628,Familial progressive hyper- and hypopigmentation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280633,Multiple congenital anomalies-hypotonia-seizures syndrome,Cases/families,Case(s),,15.0,Worldwide
280633,Multiple congenital anomalies-hypotonia-seizures syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280615,Low oxygen affinity gamma chain hemoglobin disease,Cases/families,Case(s),,10.0,Worldwide
280615,Low oxygen affinity gamma chain hemoglobin disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280598,Hereditary sensorimotor neuropathy with hyperelastic skin,Cases/families,Case(s),,4.0,Worldwide
280598,Hereditary sensorimotor neuropathy with hyperelastic skin,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280620,Progressive myoclonic epilepsy type 6,Cases/families,Case(s),,12.0,Worldwide
280620,Progressive myoclonic epilepsy type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280671,Megaconial congenital muscular dystrophy,Cases/families,Case(s),,19.0,Worldwide
280671,Megaconial congenital muscular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280640,Occipital pachygyria and polymicrogyria,Cases/families,Case(s),,3.0,Worldwide
280640,Occipital pachygyria and polymicrogyria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280654,Autosomal recessive nail dysplasia,Cases/families,Case(s),,4.0,Worldwide
280654,Autosomal recessive nail dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280779,Cutaneous collagenous vasculopathy,Cases/families,Case(s),,20.0,Worldwide
280779,Cutaneous collagenous vasculopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280785,Bullous diffuse cutaneous mastocytosis,Cases/families,Case(s),,40.0,Worldwide
280785,Bullous diffuse cutaneous mastocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280794,Pseudoxanthomatous diffuse cutaneous mastocytosis,Cases/families,Case(s),,10.0,Worldwide
280794,Pseudoxanthomatous diffuse cutaneous mastocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280679,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,Cases/families,Case(s),,9.0,Worldwide
280679,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280763,Severe intellectual disability and progressive spastic paraplegia,Cases/families,Case(s),,15.0,Worldwide
280763,Severe intellectual disability and progressive spastic paraplegia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
280774,Generalized essential telangiectasia,Point prevalence,Class only,Unknown,0.0,Worldwide
284149,Craniosynostosis-dental anomalies,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284139,"Larsen-like syndrome, B3GAT3 type",Cases/families,Case(s),,14.0,Worldwide
284139,"Larsen-like syndrome, B3GAT3 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284180,Xp22.13p22.2 duplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284169,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284169,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Cases/families,Case(s),,19.0,Worldwide
284160,8q21.11 microdeletion syndrome,Cases/families,Case(s),,13.0,Worldwide
284160,8q21.11 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284247,Familial retinal arterial macroaneurysm,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284232,Autosomal dominant Charcot-Marie-Tooth disease type 2O,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284227,TEMPI syndrome,Cases/families,Case(s),,10.0,Worldwide
284227,TEMPI syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284271,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284264,IgG4-related disease,Point prevalence,Class only,Unknown,0.0,Worldwide
284324,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284282,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284289,Adult-onset autosomal recessive cerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284289,Adult-onset autosomal recessive cerebellar ataxia,Cases/families,Case(s),,14.0,Worldwide
284343,DICER1 tumor-predisposition syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.007,Worldwide
284332,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284339,Pontocerebellar hypoplasia type 7,Cases/families,Case(s),,4.0,Worldwide
284339,Pontocerebellar hypoplasia type 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
284388,Reversible cerebral vasoconstriction syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
284395,Well-differentiated fetal adenocarcinoma of the lung,Point prevalence,Class only,Unknown,0.0,Worldwide
284400,Small cell carcinoma of the bladder,Annual incidence,Value and class,1-9 / 1 000 000,0.14,United States
284400,Small cell carcinoma of the bladder,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
284400,Small cell carcinoma of the bladder,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
282166,Inherited Creutzfeldt-Jakob disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
309854,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,Cases/families,Case(s),,20.0,Worldwide
309854,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314029,High bone mass osteogenesis imperfecta,Cases/families,Case(s),,2.0,Worldwide
314029,High bone mass osteogenesis imperfecta,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314022,Gastric adenocarcinoma and proximal polyposis of the stomach,Cases/families,Case(s),,28.0,Worldwide
314022,Gastric adenocarcinoma and proximal polyposis of the stomach,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314017,Idiopathic linear interstitial keratitis,Point prevalence,Class only,Unknown,0.0,Worldwide
314002,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,Cases/families,Case(s),,2.0,Worldwide
314002,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313947,2q23.1 microduplication syndrome,Cases/families,Case(s),,2.0,Worldwide
313947,2q23.1 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313936,PENS syndrome,Cases/families,Case(s),,13.0,Worldwide
313936,PENS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313920,Epstein-Barr virus-associated gastric carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.2,Worldwide
313920,Epstein-Barr virus-associated gastric carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
313906,Congenital pancreatic cyst,Cases/families,Case(s),,10.0,Worldwide
313906,Congenital pancreatic cyst,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313892,Developmental and speech delay due to SOX5 deficiency,Cases/families,Case(s),,14.0,Worldwide
313892,Developmental and speech delay due to SOX5 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313884,12p12.1 microdeletion syndrome,Cases/families,Case(s),,11.0,Worldwide
313884,12p12.1 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313855,FGFR2-related bent bone dysplasia,Cases/families,Case(s),,11.0,Worldwide
313855,FGFR2-related bent bone dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313850,Infantile cerebellar-retinal degeneration,Cases/families,Case(s),,11.0,Worldwide
313850,Infantile cerebellar-retinal degeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,Cases/families,Case(s),,24.0,Worldwide
313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313838,Coats plus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
313800,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Cases/families,Case(s),,3.0,Worldwide
313800,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313808,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,Cases/families,Case(s),,27.0,Worldwide
313808,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313781,20p13 microdeletion syndrome,Cases/families,Case(s),,4.0,Worldwide
313781,20p13 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313795,Jawad syndrome,Cases/families,Case(s),,4.0,Worldwide
313795,Jawad syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,Cases/families,Case(s),,2.0,Worldwide
313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314603,Autosomal recessive spastic ataxia with leukoencephalopathy,Cases/families,Case(s),,54.0,Worldwide
314603,Autosomal recessive spastic ataxia with leukoencephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314597,Chudley-McCullough syndrome,Cases/families,Case(s),,25.0,Worldwide
314597,Chudley-McCullough syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314613,Growing teratoma syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
314575,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,Cases/families,Case(s),,2.0,Worldwide
314575,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314572,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,Cases/families,Case(s),,3.0,Worldwide
314572,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314588,Distal triplication 15q syndrome,Cases/families,Case(s),,23.0,Worldwide
314588,Distal triplication 15q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314585,15q overgrowth syndrome,Cases/families,Case(s),,12.0,Worldwide
314585,15q overgrowth syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314485,Young adult-onset distal hereditary motor neuropathy,Cases/families,Case(s),,3.0,Worldwide
314485,Young adult-onset distal hereditary motor neuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314566,Primary progressive apraxia of speech,Cases/families,Case(s),,16.0,Worldwide
314566,Primary progressive apraxia of speech,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314555,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,Cases/families,Case(s),,5.0,Worldwide
314555,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314466,Atypical Meigs syndrome,Cases/families,Case(s),,9.0,Worldwide
314466,Atypical Meigs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314459,Pseudo-Meigs syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
314478,Ovarian fibrothecoma,Point prevalence,Class only,Unknown,0.0,Worldwide
314473,Ovarian fibroma,Point prevalence,Class only,Unknown,0.0,Worldwide
314422,Ameloblastic carcinoma,Cases/families,Case(s),,40.0,Worldwide
314422,Ameloblastic carcinoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314432,Spigelian hernia-cryptorchidism syndrome,Cases/families,Case(s),,15.0,Worldwide
314432,Spigelian hernia-cryptorchidism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314451,Meigs syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,Cases/families,Case(s),,14.0,Worldwide
314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314399,Autosomal dominant aplasia and myelodysplasia,Cases/families,Case(s),,6.0,Worldwide
314399,Autosomal dominant aplasia and myelodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,Cases/families,Case(s),,80.0,Worldwide
314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314419,Ameloblastoma,Point prevalence,Class only,Unknown,0.0,Worldwide
314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,Cases/families,Case(s),,32.0,Worldwide
314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Cases/families,Case(s),,16.0,Worldwide
314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314381,Hereditary sensory and autonomic neuropathy type 6,Cases/families,Case(s),,4.0,Worldwide
314381,Hereditary sensory and autonomic neuropathy type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314389,Xq12-q13.3 duplication syndrome,Cases/families,Case(s),,3.0,Worldwide
314389,Xq12-q13.3 duplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314034,7p22.1 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314034,7p22.1 microduplication syndrome,Cases/families,Case(s),,5.0,Worldwide
314041,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,Cases/families,Case(s),,2.0,Worldwide
314041,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,Cases/families,Case(s),,14.0,Worldwide
314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306674,Kufor-Rakeb syndrome,Cases/families,Case(s),,16.0,Worldwide
306674,Kufor-Rakeb syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306669,Hemiparkinsonism-hemiatrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306669,Hemiparkinsonism-hemiatrophy syndrome,Cases/families,Case(s),,68.0,Worldwide
306741,Hemidystonia-hemiatrophy syndrome,Cases/families,Case(s),,100.0,Worldwide
306741,Hemidystonia-hemiatrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306734,"Primary dystonia, DYT21 type",Cases/families,Case(s),,16.0,Worldwide
306734,"Primary dystonia, DYT21 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306731,Sydenham chorea,Point prevalence,Class only,Unknown,0.0,Worldwide
308166,Erythrokeratoderma variabilis progressiva,Point prevalence,Value and class,<1 / 1 000 000,0.046,France
308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
308410,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,Cases/families,Family(ies),,5.0,Worldwide
308410,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,Cases/families,Case(s),,7.0,Worldwide
308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
307766,Curly hair-acral keratoderma-caries syndrome,Cases/families,Case(s),,14.0,Worldwide
307766,Curly hair-acral keratoderma-caries syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
307936,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
307936,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,Cases/families,Case(s),,2.0,Worldwide
309111,Combined pancreatic lipase-colipase deficiency,Cases/families,Case(s),,3.0,Worldwide
309111,Combined pancreatic lipase-colipase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
309031,Pancreatic triacylglycerol lipase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
309031,Pancreatic triacylglycerol lipase deficiency,Annual incidence,Class only,Unknown,0.0,Worldwide
309108,Pancreatic colipase deficiency,Cases/families,Case(s),,2.0,Worldwide
309108,Pancreatic colipase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
309025,Mevalonate kinase deficiency,Cases/families,Case(s),,300.0,Worldwide
309025,Mevalonate kinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
309015,Familial lipoprotein lipase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.1,United States
309015,Familial lipoprotein lipase deficiency,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
309020,Familial apolipoprotein C-II deficiency,Cases/families,Family(ies),,10.0,Worldwide
309020,Familial apolipoprotein C-II deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
178,Chordoma,Annual incidence,Value and class,<1 / 1 000 000,0.06,United States
2637,Microcephalic osteodysplastic primordial dwarfism type II,Cases/families,Case(s),,150.0,Worldwide
2637,Microcephalic osteodysplastic primordial dwarfism type II,Point prevalence,Class only,Unknown,0.0,Worldwide
592,Macrophagic myofasciitis,Point prevalence,Class only,Unknown,0.0,Worldwide
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",Prevalence at birth,Value and class,1-9 / 100 000,3.0,"Taiwan, Province of China"
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",Prevalence at birth,Value and class,1-9 / 1 000 000,0.72,Netherlands
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",Point prevalence,Class only,Unknown,0.0,Europe
309271,"Metachromatic leukodystrophy, adult form",Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Worldwide
309271,"Metachromatic leukodystrophy, adult form",Point prevalence,Class only,Unknown,0.0,Worldwide
309246,"GM2 gangliosidosis, AB variant",Cases/families,Case(s),,10.0,Worldwide
309246,"GM2 gangliosidosis, AB variant",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
309256,"Metachromatic leukodystrophy, late infantile form",Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Worldwide
309256,"Metachromatic leukodystrophy, late infantile form",Point prevalence,Class only,Unknown,0.0,Worldwide
309263,"Metachromatic leukodystrophy, juvenile form",Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Worldwide
309263,"Metachromatic leukodystrophy, juvenile form",Point prevalence,Class only,Unknown,0.0,Worldwide
309324,"Free sialic acid storage disease, infantile form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
309324,"Free sialic acid storage disease, infantile form",Prevalence at birth,Value and class,1-9 / 1 000 000,0.14,Sweden
309334,Salla disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
309334,Salla disease,Prevalence at birth,Value and class,1-9 / 100 000,1.59,Sweden
309294,Sialidosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Netherlands
309294,Sialidosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Australia
309294,Sialidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
309294,Sialidosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Europe
309294,Sialidosis,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,Czech Republic
309294,Sialidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Sweden
309297,Mucopolysaccharidosis type 4A,Point prevalence,Value and class,1-5 / 10 000,15.0,Europe
309297,Mucopolysaccharidosis type 4A,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Canada
309297,Mucopolysaccharidosis type 4A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Germany
309297,Mucopolysaccharidosis type 4A,Point prevalence,Value and class,1-9 / 1 000 000,0.12,Germany
309297,Mucopolysaccharidosis type 4A,Prevalence at birth,Value and class,1-9 / 100 000,1.4,United Arab Emirates
309297,Mucopolysaccharidosis type 4A,Point prevalence,Value and class,1-9 / 1 000 000,0.46,United Arab Emirates
309297,Mucopolysaccharidosis type 4A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.497,Australia
309297,Mucopolysaccharidosis type 4A,Point prevalence,Value and class,1-9 / 1 000 000,0.153,Australia
309297,Mucopolysaccharidosis type 4A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.48,Canada
309297,Mucopolysaccharidosis type 4A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.29,Sweden
309297,Mucopolysaccharidosis type 4A,Point prevalence,Value and class,<1 / 1 000 000,0.029,United States
309297,Mucopolysaccharidosis type 4A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.11,United States
309297,Mucopolysaccharidosis type 4A,Point prevalence,Value and class,<1 / 1 000 000,0.0848,Brazil
309310,Mucopolysaccharidosis type 4B,Point prevalence,Value and class,<1 / 1 000 000,0.001,United States
309310,Mucopolysaccharidosis type 4B,Prevalence at birth,Value and class,<1 / 1 000 000,0.004,United States
309147,Hyper-beta-alaninemia,Cases/families,Case(s),,3.0,Worldwide
309147,Hyper-beta-alaninemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
309152,GM2 gangliosidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.87,Sweden
309152,GM2 gangliosidosis,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
300547,Autosomal recessive infantile hypercalcemia,Cases/families,Case(s),,12.0,Worldwide
300547,Autosomal recessive infantile hypercalcemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300552,Follicular cholangitis and pancreatitis,Cases/families,Case(s),,5.0,Worldwide
300552,Follicular cholangitis and pancreatitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300557,Carcinoma of the ampulla of Vater,Annual incidence,Value and class,1-9 / 1 000 000,0.59,France
300557,Carcinoma of the ampulla of Vater,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
300557,Carcinoma of the ampulla of Vater,Annual incidence,Value and class,1-9 / 1 000 000,0.57,United Kingdom
300564,Combined pulmonary fibrosis-emphysema syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,Cases/families,Case(s),,12.0,Worldwide
300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300573,Polymicrogyria due to TUBB2B mutation,Cases/families,Case(s),,36.0,Worldwide
300573,Polymicrogyria due to TUBB2B mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,Cases/families,Case(s),,24.0,Worldwide
300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300501,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,Cases/families,Case(s),,4.0,Worldwide
300501,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300504,Onychocytic matricoma,Cases/families,Case(s),,5.0,Worldwide
300504,Onychocytic matricoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300512,Onychomatricoma,Cases/families,Case(s),,50.0,Worldwide
300512,Onychomatricoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300525,Pseudohypoaldosteronism type 2D,Cases/families,Case(s),,24.0,Worldwide
300525,Pseudohypoaldosteronism type 2D,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300530,Pseudohypoaldosteronism type 2E,Cases/families,Case(s),,17.0,Worldwide
300530,Pseudohypoaldosteronism type 2E,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300536,DDOST-CDG,Cases/families,Case(s),,1.0,Worldwide
300536,DDOST-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300865,Primary cutaneous anaplastic large cell lymphoma,Point prevalence,Class only,Unknown,0.0,Europe
300857,T-cell/histiocyte rich large B cell lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.023,United States
300878,Hairy cell leukemia variant,Annual incidence,Value and class,1-9 / 1 000 000,0.22,United States
300878,Hairy cell leukemia variant,Point prevalence,Class only,Unknown,0.0,Worldwide
300895,ALK-positive anaplastic large cell lymphoma,Point prevalence,Class only,Unknown,0.0,Europe
300605,Juvenile amyotrophic lateral sclerosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
300755,Laminopathy with striated muscle involvement,Point prevalence,Class only,Unknown,0.0,Worldwide
300751,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,Point prevalence,Class only,Unknown,0.0,Worldwide
300763,Laminopathy with lipodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
300758,Laminopathy with peripheral neuropathy,Point prevalence,Class only,Unknown,0.0,Worldwide
300842,Indolent B-cell non-Hodgkin lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
300766,Laminopathy with premature aging,Point prevalence,Class only,Unknown,0.0,Worldwide
300903,ALK-negative anaplastic large cell lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
300912,Marginal zone lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.8,France
300912,Marginal zone lymphoma,Point prevalence,Value and class,1-9 / 100 000,7.0,Europe
300912,Marginal zone lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Europe
306431,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,Point prevalence,Class only,Unknown,0.0,Worldwide
306550,FADD-related immunodeficiency,Cases/families,Case(s),,4.0,Worldwide
306550,FADD-related immunodeficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306553,Myospherulosis,Point prevalence,Class only,Unknown,0.0,Worldwide
306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,Cases/families,Case(s),,3.0,Worldwide
306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,Cases/families,Case(s),,8.0,Worldwide
306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306530,Congenital hereditary facial paralysis-variable hearing loss syndrome,Cases/families,Case(s),,13.0,Worldwide
306530,Congenital hereditary facial paralysis-variable hearing loss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306527,Isolated hereditary congenital facial paralysis,Cases/families,Family(ies),,8.0,Worldwide
306527,Isolated hereditary congenital facial paralysis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306516,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,Cases/families,Case(s),,200.0,Worldwide
306516,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
306511,Autosomal recessive spastic paraplegia type 48,Cases/families,Case(s),,2.0,Worldwide
306511,Autosomal recessive spastic paraplegia type 48,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306498,PTEN hamartoma tumor syndrome,Point prevalence,Value and class,1-9 / 100 000,9.0,Worldwide
306504,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,Cases/families,Case(s),,3.0,Worldwide
306504,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306644,Complication after organ transplantation,Point prevalence,Value and class,1-9 / 100 000,9.0,Europe
306577,Hereditary sodium channelopathy-related small fibers neuropathy,Cases/families,Case(s),,8.0,Worldwide
306577,Hereditary sodium channelopathy-related small fibers neuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,Cases/families,Case(s),,8.0,Worldwide
306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
298644,Disorder of thiamine metabolism and transport,Point prevalence,Class only,Unknown,0.0,Worldwide
300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,Cases/families,Case(s),,9.0,Worldwide
300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300319,Charcot-Marie-Tooth disease type 2P,Cases/families,Case(s),,18.0,Worldwide
300319,Charcot-Marie-Tooth disease type 2P,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300324,Persistent polyclonal B-cell lymphocytosis,Cases/families,Case(s),,154.0,Worldwide
300324,Persistent polyclonal B-cell lymphocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300313,Congenital cataract-hearing loss-severe developmental delay syndrome,Cases/families,Case(s),,5.0,Worldwide
300313,Congenital cataract-hearing loss-severe developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300298,Severe congenital hypochromic anemia with ringed sideroblasts,Cases/families,Case(s),,3.0,Worldwide
300298,Severe congenital hypochromic anemia with ringed sideroblasts,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300305,11p15.4 microduplication syndrome,Cases/families,Family(ies),,1.0,Worldwide
300305,11p15.4 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,Cases/families,Case(s),,2.0,Worldwide
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,Cases/families,Case(s),,11.0,Worldwide
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.04,Europe
300385,Pituitary carcinoma,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.87,Europe
300385,Pituitary carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.026,Austria
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.041,Belgium
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.014,Bulgaria
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.037,Czech Republic
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Estonia
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.019,Finland
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.033,Germany
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.099,Ireland
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.052,Italy
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.016,Latvia
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.025,Lithuania
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.063,Malta
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.025,Norway
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Portugal
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.021,Slovakia
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.006,Slovenia
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.021,Spain
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.006,Switzerland
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.015,Netherlands
300385,Pituitary carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.036,United Kingdom
300385,Pituitary carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.135,Croatia
300385,Pituitary carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.213,Iceland
300385,Pituitary carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.171,Poland
300493,Sagliker syndrome,Cases/families,Case(s),,60.0,Worldwide
300493,Sagliker syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300373,X-linked acrogigantism,Cases/families,Case(s),,33.0,Worldwide
300373,X-linked acrogigantism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,Cases/families,Case(s),,7.0,Worldwide
300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300345,Autosomal systemic lupus erythematosus,Cases/families,Family(ies),,7.0,Worldwide
300345,Autosomal systemic lupus erythematosus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300359,PLCG2-associated antibody deficiency and immune dysregulation,Cases/families,Family(ies),,3.0,Worldwide
300359,PLCG2-associated antibody deficiency and immune dysregulation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
300333,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,Cases/families,Case(s),,3.0,Worldwide
300333,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464724,Fever-associated acute infantile liver failure syndrome,Cases/families,Case(s),,11.0,Worldwide
464724,Fever-associated acute infantile liver failure syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464738,Basel-Vanagaite-Smirin-Yosef syndrome,Cases/families,Case(s),,22.0,Worldwide
464738,Basel-Vanagaite-Smirin-Yosef syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464760,Familial cavitary optic disc anomaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464760,Familial cavitary optic disc anomaly,Cases/families,Case(s),,17.0,Worldwide
464756,Familial gastric type 1 neuroendocrine tumor,Cases/families,Case(s),,5.0,Worldwide
464756,Familial gastric type 1 neuroendocrine tumor,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
465508,Symptomatic form of HFE-related hemochromatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,Cases/families,Case(s),,16.0,Worldwide
464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,Cases/families,Case(s),,6.0,Worldwide
464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464306,DYRK1A-related intellectual disability syndrome,Cases/families,Case(s),,54.0,Worldwide
464306,DYRK1A-related intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464329,Kaposiform lymphangiomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
464321,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
464318,Verrucous hemangioma,Point prevalence,Class only,Unknown,0.0,Worldwide
464311,Intellectual disability syndrome due to a DYRK1A point mutation,Cases/families,Case(s),,35.0,Worldwide
464311,Intellectual disability syndrome due to a DYRK1A point mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464366,NEK9-related lethal skeletal dysplasia,Cases/families,Case(s),,5.0,Worldwide
464366,NEK9-related lethal skeletal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464359,Benign metanephric tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
464343,Catastrophic antiphospholipid syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
464336,BENTA disease,Cases/families,Case(s),,8.0,Worldwide
464336,BENTA disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464453,Acquired methemoglobinemia,Cases/families,Case(s),,242.0,Worldwide
464453,Acquired methemoglobinemia,Point prevalence,Class only,Unknown,0.0,Worldwide
464443,COG6-CGD,Cases/families,Case(s),,10.0,Worldwide
464443,COG6-CGD,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464440,"Primary dystonia, DYT27 type",Cases/families,Case(s),,5.0,Worldwide
464440,"Primary dystonia, DYT27 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
464370,Neonatal alloimmune neutropenia,Prevalence at birth,Value and class,1-5 / 10 000,16.6,Poland
464370,Neonatal alloimmune neutropenia,Point prevalence,Class only,Unknown,0.0,Europe
464458,Paracetamol poisoning,Annual incidence,Value and class,1-5 / 10 000,16.0,Iceland
464458,Paracetamol poisoning,Point prevalence,Class only,Unknown,0.0,Europe
662,Lymphedema with yellow nails,Cases/families,Case(s),,400.0,Worldwide
662,Lymphedema with yellow nails,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
537,Toxic epidermal necrolysis,Point prevalence,Class only,Unknown,0.0,Worldwide
793,SAPHO syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
456298,1p35.2 microdeletion syndrome,Cases/families,Case(s),,2.0,Worldwide
456298,1p35.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,Cases/families,Case(s),,4.0,Worldwide
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
456312,Infantile multisystem neurologic-endocrine-pancreatic disease,Cases/families,Case(s),,2.0,Worldwide
456312,Infantile multisystem neurologic-endocrine-pancreatic disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
456318,Hereditary sensory neuropathy-deafness-dementia syndrome,Cases/families,Family(ies),,6.0,Worldwide
456318,Hereditary sensory neuropathy-deafness-dementia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
454831,Acute radiation syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
454836,Avian influenza,Cases/families,Case(s),,826.0,Worldwide
454836,Avian influenza,Point prevalence,Class only,Unknown,0.0,Worldwide
454836,Avian influenza,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
454887,Corticobasal syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
454723,Endometrioid carcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.51,"Korea, Republic of"
454723,Endometrioid carcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.81,Europe
454718,Holmes-Adie syndrome,Annual incidence,Value and class,1-9 / 100 000,4.7,United States
454718,Holmes-Adie syndrome,Point prevalence,Class only,Unknown,0.0,Europe
454714,Plasma cell leukemia,Annual incidence,Value and class,<1 / 1 000 000,0.04,Europe
454750,Isolated tracheoesophageal fistula,Prevalence at birth,Value and class,1-9 / 100 000,4.2,Australia
454750,Isolated tracheoesophageal fistula,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Worldwide
454750,Isolated tracheoesophageal fistula,Point prevalence,Value and class,1-9 / 100 000,2.2,Worldwide
454750,Isolated tracheoesophageal fistula,Point prevalence,Value and class,1-9 / 100 000,4.2,Australia
454745,Kuru,Cases/families,Case(s),,2700.0,Worldwide
454745,Kuru,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
453533,Polyendocrine-polyneuropathy syndrome,Cases/families,Case(s),,3.0,Worldwide
453533,Polyendocrine-polyneuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,Cases/families,Case(s),,2.0,Worldwide
453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
454710,Anti-p200 pemphigoid,Cases/families,Case(s),,50.0,Worldwide
454710,Anti-p200 pemphigoid,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
454700,Acquired Creutzfeldt-Jakob disease,Point prevalence,Class only,Unknown,0.0,Europe
451602,Primary cutaneous plasmacytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
451607,Cutaneous pseudolymphoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
451607,Cutaneous pseudolymphoma,Cases/families,Case(s),,60.0,Worldwide
451612,Familial congenital nasolacrimal duct obstruction,Cases/families,Case(s),,4.0,Worldwide
451612,Familial congenital nasolacrimal duct obstruction,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
453499,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,Cases/families,Case(s),,25.0,Worldwide
453499,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,Cases/families,Case(s),,10.0,Worldwide
453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
453510,Congenital insensitivity to pain with severe intellectual disability,Cases/families,Case(s),,3.0,Worldwide
453510,Congenital insensitivity to pain with severe intellectual disability,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
450322,Polyclonal hyperviscosity syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
449566,Eosinophilic angiocentric fibrosis,Cases/families,Case(s),,52.0,Worldwide
449566,Eosinophilic angiocentric fibrosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
449563,IgG4-related ophthalmic disease,Point prevalence,Class only,Unknown,0.0,Worldwide
449400,IgG4-related aortitis,Point prevalence,Class only,Unknown,0.0,Worldwide
449395,IgG4-related kidney disease,Point prevalence,Class only,Unknown,0.0,Worldwide
449432,IgG4-related submandibular gland disease,Point prevalence,Class only,Unknown,0.0,Worldwide
449427,IgG4-related pachymeningitis,Point prevalence,Class only,Unknown,0.0,Worldwide
449280,Scedosporiosis,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Australia
449280,Scedosporiosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
449285,Snakebite envenomation,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
449266,Pleural empyema,Point prevalence,Value and class,1-5 / 10 000,13.0,Europe
448264,Isolated focal non-epidermolytic palmoplantar keratoderma,Cases/families,Case(s),,2.0,Worldwide
448264,Isolated focal non-epidermolytic palmoplantar keratoderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
448251,Progressive autosomal recessive ataxia-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
448251,Progressive autosomal recessive ataxia-deafness syndrome,Cases/families,Case(s),,13.0,Worldwide
448270,Ectopia cordis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Worldwide
448270,Ectopia cordis,Point prevalence,Class only,Unknown,0.0,Worldwide
448267,Regressive spondylometaphyseal dysplasia,Cases/families,Case(s),,2.0,Worldwide
448267,Regressive spondylometaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
448010,CAD-CDG,Cases/families,Case(s),,1.0,Worldwide
448010,CAD-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,Cases/families,Case(s),,15.0,Worldwide
447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
448242,Autosomal recessive brachyolmia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
448242,Autosomal recessive brachyolmia,Cases/families,Case(s),,20.0,Worldwide
448237,Zika virus disease,Point prevalence,Class only,Unknown,0.0,Worldwide
448237,Zika virus disease,Annual incidence,Value and class,1-5 / 10 000,58.8,Brazil
447977,Progressive scapulohumeroperoneal distal myopathy,Cases/families,Case(s),,33.0,Worldwide
447977,Progressive scapulohumeroperoneal distal myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447980,19p13.3 microduplication syndrome,Cases/families,Case(s),,6.0,Worldwide
447980,19p13.3 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447954,Combined oxidative phosphorylation defect type 25,Cases/families,Case(s),,2.0,Worldwide
447954,Combined oxidative phosphorylation defect type 25,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,Cases/families,Case(s),,21.0,Worldwide
447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447961,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,Cases/families,Case(s),,2.0,Worldwide
447961,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
459033,Ataxia-oculomotor apraxia type 4,Cases/families,Case(s),,12.0,Worldwide
459033,Ataxia-oculomotor apraxia type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
459051,"Spondyloepiphyseal dysplasia, Stanescu type",Cases/families,Case(s),,7.0,Worldwide
459051,"Spondyloepiphyseal dysplasia, Stanescu type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,Cases/families,Case(s),,8.0,Worldwide
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
459056,Autosomal recessive spastic paraplegia type 75,Cases/families,Case(s),,5.0,Worldwide
459056,Autosomal recessive spastic paraplegia type 75,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
459074,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,Cases/families,Case(s),,4.0,Worldwide
459074,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
459070,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,Cases/families,Case(s),,2.0,Worldwide
459070,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
458718,Idiopathic spontaneous coronary artery dissection,Point prevalence,Class only,Unknown,0.0,Europe
458758,Composite hemangioendothelioma,Cases/families,Case(s),,39.0,Worldwide
458758,Composite hemangioendothelioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
458763,Retiform hemangioendothelioma,Cases/families,Case(s),,32.0,Worldwide
458763,Retiform hemangioendothelioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
458768,Papillary intralymphatic angioendothelioma,Cases/families,Case(s),,30.0,Worldwide
458768,Papillary intralymphatic angioendothelioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
458798,Spinocerebellar ataxia type 41,Cases/families,Case(s),,1.0,Worldwide
458798,Spinocerebellar ataxia type 41,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
458803,Spinocerebellar ataxia type 42,Cases/families,Case(s),,25.0,Worldwide
458803,Spinocerebellar ataxia type 42,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457485,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,Cases/families,Case(s),,8.0,Worldwide
457485,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457265,Progressive myoclonic epilepsy type 9,Cases/families,Case(s),,2.0,Worldwide
457265,Progressive myoclonic epilepsy type 9,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,Cases/families,Case(s),,16.0,Worldwide
457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457260,X-linked intellectual disability-hypotonia-movement disorder syndrome,Cases/families,Case(s),,38.0,Worldwide
457260,X-linked intellectual disability-hypotonia-movement disorder syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457240,X-linked intellectual disability-short stature-overweight syndrome,Cases/families,Case(s),,20.0,Worldwide
457240,X-linked intellectual disability-short stature-overweight syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457406,Multiple mitochondrial dysfunctions syndrome type 4,Cases/families,Case(s),,8.0,Worldwide
457406,Multiple mitochondrial dysfunctions syndrome type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,Cases/families,Case(s),,7.0,Worldwide
457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457378,Complex lethal osteochondrodysplasia,Cases/families,Case(s),,6.0,Worldwide
457378,Complex lethal osteochondrodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457359,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,Cases/families,Case(s),,2.0,Worldwide
457359,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457365,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
457365,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,Cases/families,Case(s),,5.0,Worldwide
457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,Cases/families,Case(s),,14.0,Worldwide
457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,Cases/families,Case(s),,11.0,Worldwide
457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457083,Isolated splenogonadal fusion,Cases/families,Case(s),,145.0,Worldwide
457083,Isolated splenogonadal fusion,Point prevalence,Class only,Unknown,0.0,Worldwide
457077,TAFRO syndrome,Cases/families,Case(s),,28.0,Worldwide
457077,TAFRO syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457095,Actinomycosis,Point prevalence,Class only,Unknown,0.0,Worldwide
457223,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,Cases/families,Case(s),,2.0,Worldwide
457223,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,Cases/families,Case(s),,5.0,Worldwide
457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457193,KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome,Cases/families,Case(s),,76.0,Worldwide
457193,KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457205,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,Cases/families,Case(s),,2.0,Worldwide
457205,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
456369,Polyglucosan body myopathy type 2,Cases/families,Case(s),,15.0,Worldwide
456369,Polyglucosan body myopathy type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
457050,Autosomal dominant mitochondrial myopathy with exercise intolerance,Cases/families,Case(s),,15.0,Worldwide
457050,Autosomal dominant mitochondrial myopathy with exercise intolerance,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
317,Erythrokeratodermia variabilis,Cases/families,Case(s),,200.0,Worldwide
317,Erythrokeratodermia variabilis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
629,Short stature due to growth hormone qualitative anomaly,Cases/families,Case(s),,3.0,Worldwide
629,Short stature due to growth hormone qualitative anomaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
248,Autosomal recessive hypohidrotic ectodermal dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,Cases/families,Case(s),,40.0,Worldwide
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3437,Vogt-Koyanagi-Harada disease,Point prevalence,Class only,Unknown,0.0,Worldwide
3437,Vogt-Koyanagi-Harada disease,Annual incidence,Value and class,1-9 / 1 000 000,0.38,United States
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-5 / 10 000,16.125,Worldwide
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-9 / 100 000,5.55,Worldwide
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-5 / 10 000,29.8,Canada
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-5 / 10 000,15.35,Canada
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-9 / 100 000,8.6,Finland
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-9 / 100 000,1.3,Finland
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-9 / 100 000,8.2,France
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-9 / 100 000,2.8,France
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-5 / 10 000,21.2,Italy
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-9 / 100 000,2.6,Italy
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-9 / 100 000,5.9,Japan
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-5 / 10 000,37.0,"Korea, Republic of"
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-5 / 10 000,13.0,"Korea, Republic of"
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-5 / 10 000,11.6,United Kingdom
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-9 / 100 000,1.2,United Kingdom
2032,Idiopathic pulmonary fibrosis,Point prevalence,Value and class,1-9 / 100 000,6.7,United States
2032,Idiopathic pulmonary fibrosis,Annual incidence,Value and class,1-9 / 100 000,2.6,United States
1303,Bronchiolitis obliterans,Point prevalence,Class only,Unknown,0.0,Worldwide
3348,Tracheobronchopathia osteochondroplastica,Point prevalence,Class only,Unknown,0.0,Worldwide
3348,Tracheobronchopathia osteochondroplastica,Cases/families,Case(s),,400.0,Worldwide
2902,Idiopathic chronic eosinophilic pneumonia,Point prevalence,Class only,Unknown,0.0,Worldwide
2902,Idiopathic chronic eosinophilic pneumonia,Annual incidence,Value and class,1-9 / 1 000 000,0.23,Iceland
1302,Cryptogenic organizing pneumonia,Point prevalence,Class only,Unknown,0.0,Worldwide
1302,Cryptogenic organizing pneumonia,Point prevalence,Value and class,1-9 / 1 000 000,0.81,Spain
1302,Cryptogenic organizing pneumonia,Point prevalence,Value and class,1-9 / 1 000 000,0.92,Greece
1302,Cryptogenic organizing pneumonia,Annual incidence,Value and class,1-9 / 100 000,1.1,Iceland
198,Occipital horn syndrome,Cases/families,Case(s),,35.0,Worldwide
198,Occipital horn syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
891,Familial exudative vitreoretinopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
466677,Scorpion envenomation,Point prevalence,Class only,Unknown,0.0,Worldwide
466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,Cases/families,Case(s),,6.0,Worldwide
466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466695,Supratip dysplasia,Cases/families,Case(s),,5.0,Worldwide
466695,Supratip dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466670,Cyanide poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
466650,Exercise-induced malignant hyperthermia,Point prevalence,Class only,Unknown,0.0,Worldwide
466962,SMARCA4-deficient sarcoma of thorax,Cases/families,Case(s),,19.0,Worldwide
466962,SMARCA4-deficient sarcoma of thorax,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,Cases/families,Case(s),,10.0,Worldwide
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466943,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,Cases/families,Case(s),,22.0,Worldwide
466943,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466926,Seizures-scoliosis-macrocephaly syndrome,Cases/families,Case(s),,10.0,Worldwide
466926,Seizures-scoliosis-macrocephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,Cases/families,Case(s),,13.0,Worldwide
466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466921,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Cases/families,Family(ies),,3.0,Worldwide
466921,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466806,Autosomal dominant thrombocytopenia with platelet secretion defect,Cases/families,Family(ies),,4.0,Worldwide
466806,Autosomal dominant thrombocytopenia with platelet secretion defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466794,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,Cases/families,Case(s),,3.0,Worldwide
466794,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,Cases/families,Case(s),,6.0,Worldwide
466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,Cases/families,Case(s),,3.0,Worldwide
466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,Cases/families,Case(s),,29.0,Worldwide
466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,Cases/families,Case(s),,21.0,Worldwide
466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466722,Autosomal recessive spastic paraplegia type 77,Cases/families,Case(s),,8.0,Worldwide
466722,Autosomal recessive spastic paraplegia type 77,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466718,Martinique crinkled retinal pigment epitheliopathy,Cases/families,Case(s),,14.0,Worldwide
466718,Martinique crinkled retinal pigment epitheliopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466703,TMEM199-CDG,Cases/families,Case(s),,7.0,Worldwide
466703,TMEM199-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
465824,Fetal encasement syndrome,Cases/families,Case(s),,2.0,Worldwide
465824,Fetal encasement syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
466026,Class I glucose-6-phosphate dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468620,Intellectual disability-epilepsy-extrapyramidal syndrome,Cases/families,Case(s),,3.0,Worldwide
468620,Intellectual disability-epilepsy-extrapyramidal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468631,Microcephalic cortical malformations-short stature due to RTTN deficiency,Cases/families,Case(s),,28.0,Worldwide
468631,Microcephalic cortical malformations-short stature due to RTTN deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
467166,Tubulinopathy-associated dysgyria,Cases/families,Case(s),,7.0,Worldwide
467166,Tubulinopathy-associated dysgyria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,Cases/families,Case(s),,6.0,Worldwide
467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468635,Cryptogenic multifocal ulcerous stenosing enteritis,Cases/families,Case(s),,60.0,Worldwide
468635,Cryptogenic multifocal ulcerous stenosing enteritis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468641,Chronic enteropathy associated with SLCO2A1 gene,Cases/families,Case(s),,18.0,Worldwide
468641,Chronic enteropathy associated with SLCO2A1 gene,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468661,Autosomal recessive spastic paraplegia type 74,Cases/families,Case(s),,11.0,Worldwide
468661,Autosomal recessive spastic paraplegia type 74,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468666,Isolated generalized anhidrosis with normal sweat glands,Cases/families,Case(s),,7.0,Worldwide
468666,Isolated generalized anhidrosis with normal sweat glands,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468678,White-Sutton syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468684,CCDC115-CDG,Cases/families,Case(s),,8.0,Worldwide
468684,CCDC115-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468672,Colobomatous macrophthalmia-microcornea syndrome,Cases/families,Case(s),,21.0,Worldwide
468672,Colobomatous macrophthalmia-microcornea syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468726,Severe primary trimethylaminuria,Point prevalence,Class only,Unknown,0.0,Worldwide
468699,SLC39A8-CDG,Cases/families,Case(s),,10.0,Worldwide
468699,SLC39A8-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
468717,Rhizomelic chondrodysplasia punctata type 5,Cases/families,Case(s),,4.0,Worldwide
468717,Rhizomelic chondrodysplasia punctata type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401785,Autosomal recessive spastic paraplegia type 62,Cases/families,Case(s),,7.0,Worldwide
401785,Autosomal recessive spastic paraplegia type 62,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401780,Autosomal recessive spastic paraplegia type 61,Cases/families,Case(s),,4.0,Worldwide
401780,Autosomal recessive spastic paraplegia type 61,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401800,Autosomal recessive spastic paraplegia type 60,Cases/families,Case(s),,1.0,Worldwide
401800,Autosomal recessive spastic paraplegia type 60,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401795,Autosomal recessive spastic paraplegia type 59,Cases/families,Case(s),,3.0,Worldwide
401795,Autosomal recessive spastic paraplegia type 59,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401768,Proximal myopathy with extrapyramidal signs,Cases/families,Case(s),,15.0,Worldwide
401768,Proximal myopathy with extrapyramidal signs,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401764,Pancytopenia-developmental delay syndrome,Cases/families,Case(s),,3.0,Worldwide
401764,Pancytopenia-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401777,Optic atrophy-intellectual disability syndrome,Cases/families,Case(s),,6.0,Worldwide
401777,Optic atrophy-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401830,Autosomal recessive spastic paraplegia type 69,Cases/families,Case(s),,2.0,Worldwide
401830,Autosomal recessive spastic paraplegia type 69,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401835,Autosomal recessive spastic paraplegia type 70,Cases/families,Case(s),,4.0,Worldwide
401835,Autosomal recessive spastic paraplegia type 70,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401840,Autosomal recessive spastic paraplegia type 71,Cases/families,Case(s),,1.0,Worldwide
401840,Autosomal recessive spastic paraplegia type 71,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401805,Autosomal recessive spastic paraplegia type 63,Cases/families,Case(s),,2.0,Worldwide
401805,Autosomal recessive spastic paraplegia type 63,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401810,Autosomal recessive spastic paraplegia type 64,Cases/families,Case(s),,4.0,Worldwide
401810,Autosomal recessive spastic paraplegia type 64,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401815,Autosomal recessive spastic paraplegia type 66,Cases/families,Case(s),,2.0,Worldwide
401815,Autosomal recessive spastic paraplegia type 66,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401820,Autosomal recessive spastic paraplegia type 67,Cases/families,Case(s),,2.0,Worldwide
401820,Autosomal recessive spastic paraplegia type 67,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401866,Childhood-onset spasticity with hyperglycinemia,Cases/families,Case(s),,3.0,Worldwide
401866,Childhood-onset spasticity with hyperglycinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401869,Multiple mitochondrial dysfunctions syndrome type 1,Cases/families,Case(s),,21.0,Worldwide
401869,Multiple mitochondrial dysfunctions syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401874,Multiple mitochondrial dysfunctions syndrome type 2,Cases/families,Case(s),,6.0,Worldwide
401874,Multiple mitochondrial dysfunctions syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401849,Autosomal spastic paraplegia type 72,Cases/families,Case(s),,14.0,Worldwide
401849,Autosomal spastic paraplegia type 72,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401859,Lipoic acid synthetase deficiency,Cases/families,Case(s),,3.0,Worldwide
401859,Lipoic acid synthetase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401862,Lipoyl transferase 1 deficiency,Cases/families,Case(s),,4.0,Worldwide
401862,Lipoyl transferase 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
402823,Hepatitis delta,Point prevalence,Value and class,1-5 / 10 000,40.0,Europe
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,United States
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Austria
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.019,Belgium
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.029,Bulgaria
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.029,Czech Republic
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.018,Estonia
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.031,France
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.019,Germany
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.022,Ireland
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Italy
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.022,Latvia
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Norway
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Poland
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.006,Portugal
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Slovakia
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Spain
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.017,Switzerland
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.022,Netherlands
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.016,United Kingdom
401920,Fibrolamellar hepatocellular carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.025,Europe
401911,AXIN2-related polyposis,Cases/families,Family(ies),,4.0,Worldwide
401911,AXIN2-related polyposis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401901,Huntington disease-like syndrome due to C9ORF72 expansions,Cases/families,Case(s),,10.0,Worldwide
401901,Huntington disease-like syndrome due to C9ORF72 expansions,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401942,Familial median cleft of the upper and lower lips,Cases/families,Case(s),,8.0,Worldwide
401942,Familial median cleft of the upper and lower lips,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401935,14q24.1q24.3 microdeletion syndrome,Cases/families,Case(s),,3.0,Worldwide
401935,14q24.1q24.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401923,9q31.1q31.3 microdeletion syndrome,Cases/families,Case(s),,2.0,Worldwide
401923,9q31.1q31.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401959,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,Cases/families,Case(s),,2.0,Worldwide
401959,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401953,Episodic ataxia with slurred speech,Cases/families,Case(s),,13.0,Worldwide
401953,Episodic ataxia with slurred speech,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,Cases/families,Case(s),,4.0,Worldwide
401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401945,Moyamoya disease with early-onset achalasia,Cases/families,Case(s),,9.0,Worldwide
401945,Moyamoya disease with early-onset achalasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401986,1p31p32 microdeletion syndrome,Cases/families,Case(s),,5.0,Worldwide
401986,1p31p32 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",Cases/families,Case(s),,4.0,Worldwide
401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401973,MEND syndrome,Cases/families,Case(s),,24.0,Worldwide
401973,MEND syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Cases/families,Family(ies),,2.0,Worldwide
401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,Cases/families,Case(s),,21.0,Worldwide
402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
401996,Karyomegalic interstitial nephritis,Cases/families,Family(ies),,12.0,Worldwide
401996,Karyomegalic interstitial nephritis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
402020,Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),Annual incidence,Value and class,,0.02,Worldwide
402014,Acute myeloid leukemia with t(6;9)(p23;q34),Annual incidence,Value and class,<1 / 1 000 000,0.02,Worldwide
402035,Eosinophilic colitis,Cases/families,Case(s),,196.0,Worldwide
402035,Eosinophilic colitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
402082,Progressive myoclonic epilepsy type 5,Cases/families,Case(s),,3.0,Worldwide
402082,Progressive myoclonic epilepsy type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,Cases/families,Case(s),,5.0,Worldwide
402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
402041,Autosomal recessive distal renal tubular acidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
806,Scott syndrome,Cases/families,Case(s),,4.0,Worldwide
806,Scott syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404473,Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome,Cases/families,Case(s),,4.0,Worldwide
404473,Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404463,Multisystemic smooth muscle dysfunction syndrome,Cases/families,Case(s),,7.0,Worldwide
404463,Multisystemic smooth muscle dysfunction syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404466,Female infertility due to zona pellucida defect,Cases/families,Case(s),,4.0,Worldwide
404466,Female infertility due to zona pellucida defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404451,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,Cases/families,Case(s),,3.0,Worldwide
404451,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,Cases/families,Case(s),,8.0,Worldwide
404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404443,Tatton-Brown-Rahman syndrome,Cases/families,Case(s),,17.0,Worldwide
404443,Tatton-Brown-Rahman syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404448,Helsmoortel-Van der Aa syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,Cases/families,Case(s),,4.0,Worldwide
404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404560,Familial atypical multiple mole melanoma syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
404553,Deficiency of adenosine deaminase 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404553,Deficiency of adenosine deaminase 2,Cases/families,Case(s),,48.0,Worldwide
404546,DITRA,Cases/families,Case(s),,70.0,Worldwide
404546,DITRA,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404521,Spinal muscular atrophy with respiratory distress type 2,Cases/families,Case(s),,1.0,Worldwide
404521,Spinal muscular atrophy with respiratory distress type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404507,Chondromyxoid fibroma,Cases/families,Case(s),,50.0,Worldwide
404507,Chondromyxoid fibroma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Cases/families,Case(s),,2.0,Worldwide
404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,Cases/families,Case(s),,3.0,Worldwide
404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
404476,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Cases/families,Case(s),,2.0,Worldwide
404476,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411527,Central retinal vein occlusion,Point prevalence,Value and class,1-5 / 10 000,28.0,Europe
411536,Mild phosphoribosylpyrophosphate synthetase superactivity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411543,Severe phosphoribosylpyrophosphate synthetase superactivity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411543,Severe phosphoribosylpyrophosphate synthetase superactivity,Cases/families,Case(s),,33.0,Worldwide
411593,Insulin autoimmune syndrome,Cases/families,Case(s),,404.0,Worldwide
411593,Insulin autoimmune syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.017,Europe
411602,Hereditary late-onset Parkinson disease,Point prevalence,Class only,Unknown,0.0,Worldwide
411629,Infantile nephropathic cystinosis,Prevalence at birth,Class only,1-9 / 1 000 000,0.0,Europe
411629,Infantile nephropathic cystinosis,Point prevalence,Class only,Unknown,0.0,Worldwide
411493,Pontocerebellar hypoplasia type 10,Cases/families,Case(s),,23.0,Worldwide
411493,Pontocerebellar hypoplasia type 10,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411777,Generalized eruptive keratoacanthoma,Cases/families,Case(s),,40.0,Worldwide
411777,Generalized eruptive keratoacanthoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411712,Maternal riboflavin deficiency,Cases/families,Case(s),,2.0,Worldwide
411712,Maternal riboflavin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411788,Familial isolated trichomegaly,Cases/families,Family(ies),,2.0,Worldwide
411788,Familial isolated trichomegaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412035,13q12.3 microdeletion syndrome,Cases/families,Case(s),,3.0,Worldwide
412035,13q12.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,Cases/families,Family(ies),,4.0,Worldwide
412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
411641,Ocular cystinosis,Point prevalence,Class only,Unknown,0.0,Worldwide
411634,Juvenile nephropathic cystinosis,Prevalence at birth,Class only,<1 / 1 000 000,0.0,Europe
411634,Juvenile nephropathic cystinosis,Point prevalence,Class only,Unknown,0.0,Worldwide
411709,Renal agenesis,Prevalence at birth,Class only,1-5 / 10 000,0.0,Worldwide
411709,Renal agenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
411703,Pulmonary non-tuberculous mycobacterial infection,Point prevalence,Value and class,1-9 / 100 000,6.0,Europe
371428,Multicentric osteolysis-nodulosis-arthropathy spectrum,Cases/families,Case(s),,50.0,Worldwide
371428,Multicentric osteolysis-nodulosis-arthropathy spectrum,Point prevalence,Class only,Unknown,0.0,Worldwide
371364,Hypotonia-speech impairment-severe cognitive delay syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
391673,Necrotizing enterocolitis,Point prevalence,Value and class,1-5 / 10 000,45.0,Worldwide
391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,Cases/families,Case(s),,39.0,Worldwide
391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391474,Frontorhiny,Point prevalence,Class only,Unknown,0.0,Worldwide
391504,Transient neonatal myasthenia gravis,Point prevalence,Class only,Unknown,0.0,Worldwide
391497,Juvenile myasthenia gravis,Point prevalence,Class only,Unknown,0.0,Worldwide
391490,Adult-onset myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,31.8,Serbia
391490,Adult-onset myasthenia gravis,Annual incidence,Value and class,1-9 / 100 000,1.33,Serbia
391490,Adult-onset myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,17.0,United States
391490,Adult-onset myasthenia gravis,Point prevalence,Value and class,1-5 / 10 000,28.0,United Kingdom
391490,Adult-onset myasthenia gravis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
391487,STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Cases/families,Case(s),,5.0,Worldwide
391487,STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
391646,Feingold syndrome type 2,Cases/families,Case(s),,7.0,Worldwide
391646,Feingold syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391641,Feingold syndrome type 1,Cases/families,Case(s),,120.0,Worldwide
391641,Feingold syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391665,Homozygous familial hypercholesterolemia,Annual incidence,Value and class,1-9 / 1 000 000,0.5842,Japan
391665,Homozygous familial hypercholesterolemia,Point prevalence,Value and class,1-9 / 1 000 000,0.3194,Worldwide
391665,Homozygous familial hypercholesterolemia,Point prevalence,Value and class,1-9 / 1 000 000,0.22,Spain
391665,Homozygous familial hypercholesterolemia,Point prevalence,Value and class,1-9 / 1 000 000,0.625,Denmark
391665,Homozygous familial hypercholesterolemia,Point prevalence,Value and class,1-9 / 1 000 000,0.33,Netherlands
391665,Homozygous familial hypercholesterolemia,Point prevalence,Value and class,1-9 / 1 000 000,0.125,Germany
391655,Off-periods in Parkinson disease not responding to oral treatment,Point prevalence,Value and class,1-9 / 100 000,4.15,Europe
391343,Fatal post-viral neurodegenerative disorder,Cases/families,Case(s),,2.0,Worldwide
391343,Fatal post-viral neurodegenerative disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,Cases/families,Case(s),,2.0,Worldwide
391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391351,SURF1-related Charcot-Marie-Tooth disease type 4,Cases/families,Case(s),,3.0,Worldwide
391351,SURF1-related Charcot-Marie-Tooth disease type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391366,Growth retardation-mild developmental delay-chronic hepatitis syndrome,Cases/families,Case(s),,2.0,Worldwide
391366,Growth retardation-mild developmental delay-chronic hepatitis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391372,FOXP1 Syndrome,Cases/families,Case(s),,48.0,Worldwide
391372,FOXP1 Syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,Cases/families,Case(s),,20.0,Worldwide
391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391384,Familial episodic pain syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
391389,Familial episodic pain syndrome with predominantly upper body involvement,Cases/families,Case(s),,21.0,Worldwide
391389,Familial episodic pain syndrome with predominantly upper body involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391392,Familial episodic pain syndrome with predominantly lower limb involvement,Cases/families,Case(s),,28.0,Worldwide
391392,Familial episodic pain syndrome with predominantly lower limb involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391397,Hereditary sensory and autonomic neuropathy type 7,Cases/families,Case(s),,3.0,Worldwide
391397,Hereditary sensory and autonomic neuropathy type 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,Cases/families,Case(s),,8.0,Worldwide
391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391411,Atypical juvenile parkinsonism,Cases/families,Family(ies),,6.0,Worldwide
391411,Atypical juvenile parkinsonism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391417,HSD10 disease,Cases/families,Case(s),,37.0,Worldwide
391417,HSD10 disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391457,"HSD10 disease, neonatal type",Cases/families,Case(s),,3.0,Worldwide
391457,"HSD10 disease, neonatal type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391316,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,Cases/families,Case(s),,3.0,Worldwide
391316,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391327,X-linked calvarial hyperostosis,Cases/families,Family(ies),,1.0,Worldwide
391327,X-linked calvarial hyperostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391320,East Texas bleeding disorder,Cases/families,Case(s),,19.0,Worldwide
391320,East Texas bleeding disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
391330,X-linked osteoporosis with fractures,Cases/families,Family(ies),,8.0,Worldwide
391330,X-linked osteoporosis with fractures,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398063,Refractory celiac disease,Point prevalence,Class only,Unknown,0.0,Worldwide
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.57,Europe
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.612,Netherlands
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.491,Austria
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.605,Belgium
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.516,Bulgaria
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.423,Croatia
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.684,Czech Republic
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Estonia
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.426,Finland
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.638,Germany
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.682,Iceland
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.475,Ireland
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.606,Italy
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.552,Latvia
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.517,Lithuania
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.628,Malta
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.744,Norway
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.396,Poland
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.745,Portugal
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.499,Slovakia
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.45,Slovenia
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.791,Spain
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.597,Switzerland
398058,Squamous cell carcinoma of the penis,Annual incidence,Value and class,1-9 / 1 000 000,0.691,United Kingdom
398053,Adenocarcinoma of the penis,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.006,Austria
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.006,Belgium
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.003,Bulgaria
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.003,Croatia
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.004,Czech Republic
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.005,Germany
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.003,Ireland
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.004,Italy
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.005,Latvia
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.012,Lithuania
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.005,Norway
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.003,Poland
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.025,Portugal
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.004,Netherlands
398053,Adenocarcinoma of the penis,Annual incidence,Value and class,<1 / 1 000 000,0.006,United Kingdom
398043,Malignant tumor of penis,Annual incidence,Value and class,1-9 / 100 000,4.85,Brazil
398043,Malignant tumor of penis,Annual incidence,Value and class,1-9 / 100 000,3.5,Uganda
398043,Malignant tumor of penis,Annual incidence,Value and class,1-9 / 100 000,1.075,Europe
398043,Malignant tumor of penis,Annual incidence,Value and class,1-9 / 100 000,1.21,United Kingdom
398043,Malignant tumor of penis,Annual incidence,Value and class,1-9 / 1 000 000,0.58,United States
397973,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,Cases/families,Case(s),,2.0,Worldwide
397973,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397968,Charcot-Marie-Tooth disease type 2R,Cases/families,Case(s),,1.0,Worldwide
397968,Charcot-Marie-Tooth disease type 2R,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397964,Combined immunodeficiency due to MALT1 deficiency,Cases/families,Case(s),,3.0,Worldwide
397964,Combined immunodeficiency due to MALT1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397959,TCR-alpha-beta-positive T-cell deficiency,Cases/families,Case(s),,2.0,Worldwide
397959,TCR-alpha-beta-positive T-cell deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397946,Autosomal spastic paraplegia type 58,Cases/families,Case(s),,19.0,Worldwide
397946,Autosomal spastic paraplegia type 58,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397941,MAN1B1-CDG,Cases/families,Case(s),,25.0,Worldwide
397941,MAN1B1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397937,Polyglucosan body myopathy type 1,Cases/families,Case(s),,11.0,Worldwide
397937,Polyglucosan body myopathy type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397933,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,Cases/families,Case(s),,3.0,Worldwide
397933,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,Cases/families,Case(s),,4.0,Worldwide
397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397922,Ferro-cerebro-cutaneous syndrome,Cases/families,Case(s),,3.0,Worldwide
397922,Ferro-cerebro-cutaneous syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397787,Combined immunodeficiency due to IKBKB deficiency,Cases/families,Case(s),,9.0,Worldwide
397787,Combined immunodeficiency due to IKBKB deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397755,Periodic paralysis with transient compartment-like syndrome,Cases/families,Case(s),,4.0,Worldwide
397755,Periodic paralysis with transient compartment-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,Cases/families,Case(s),,14.0,Worldwide
397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397744,MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Cases/families,Case(s),,15.0,Worldwide
397744,MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397750,Periodic paralysis with later-onset distal motor neuropathy,Cases/families,Case(s),,9.0,Worldwide
397750,Periodic paralysis with later-onset distal motor neuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397725,COASY protein-associated neurodegeneration,Cases/families,Case(s),,2.0,Worldwide
397725,COASY protein-associated neurodegeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Cases/families,Case(s),,2.0,Worldwide
397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Cases/families,Case(s),,30.0,Worldwide
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Cases/families,Case(s),,8.0,Worldwide
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397692,Hereditary isolated aplastic anemia,Point prevalence,Class only,Unknown,0.0,Worldwide
397623,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,Cases/families,Case(s),,4.0,Worldwide
397623,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397685,Familial hyperprolactinemia,Point prevalence,Class only,Unknown,0.0,Worldwide
397615,Obesity due to CEP19 deficiency,Cases/families,Case(s),,15.0,Worldwide
397615,Obesity due to CEP19 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Cases/families,Family(ies),,7.0,Worldwide
397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397596,Activated PI3K-delta syndrome,Cases/families,Case(s),,250.0,Worldwide
397596,Activated PI3K-delta syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,Cases/families,Case(s),,5.0,Worldwide
397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397612,Macrocephaly-developmental delay syndrome,Cases/families,Case(s),,9.0,Worldwide
397612,Macrocephaly-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397606,PrP systemic amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397606,PrP systemic amyloidosis,Cases/families,Case(s),,16.0,Worldwide
397590,Silver-Russell syndrome due to a point mutation,Cases/families,Case(s),,8.0,Worldwide
397590,Silver-Russell syndrome due to a point mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
397587,Deep dermatophytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
399329,Epiphysiolysis of the hip,Point prevalence,Class only,Unknown,0.0,Worldwide
399180,Secondary non-traumatic avascular necrosis,Point prevalence,Class only,Unknown,0.0,Worldwide
399058,Alpha-B crystallin-related late-onset myopathy,Cases/families,Case(s),,17.0,Worldwide
399058,Alpha-B crystallin-related late-onset myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398987,Malignant teratoma of ovary,Point prevalence,Class only,Unknown,0.0,Worldwide
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.07,Europe
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.051,Austria
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.052,Belgium
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.043,Bulgaria
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.056,Croatia
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.034,Czech Republic
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.074,Estonia
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.053,Finland
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.042,Germany
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.052,Ireland
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.039,Italy
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.027,Latvia
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.017,Lithuania
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.031,Malta
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.084,Norway
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.048,Poland
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.045,Portugal
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.045,Slovakia
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.075,Slovenia
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.063,Spain
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.084,Switzerland
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.082,Netherlands
398987,Malignant teratoma of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.056,United Kingdom
399086,HNRNPA1-related adult-onset distal myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
399086,HNRNPA1-related adult-onset distal myopathy,Cases/families,Case(s),,7.0,Worldwide
399081,KLHL9-related early-onset distal myopathy,Cases/families,Case(s),,10.0,Worldwide
399081,KLHL9-related early-onset distal myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
399103,Autosomal recessive distal nebulin myopathy,Cases/families,Case(s),,13.0,Worldwide
399103,Autosomal recessive distal nebulin myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
399096,Distal anoctaminopathy,Cases/families,Case(s),,24.0,Worldwide
399096,Distal anoctaminopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398934,Malignant epithelial tumor of ovary,Annual incidence,Value and class,1-9 / 100 000,9.39,Europe
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.85,Europe
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.497,Austria
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.883,Belgium
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.815,Croatia
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.995,Czech Republic
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.666,Germany
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.469,Iceland
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.706,Ireland
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.666,Italy
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.503,Latvia
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.567,Lithuania
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.717,Norway
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.665,Poland
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.49,Portugal
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.945,Slovakia
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.601,Slovenia
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.695,Spain
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.563,Switzerland
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.76,Netherlands
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.815,United Kingdom
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,1.154,Bulgaria
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,1.108,Estonia
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,1.062,Finland
398961,Mucinous adenocarcinoma of ovary,Annual incidence,Value and class,1-9 / 100 000,1.162,Malta
398940,Malignant non-epithelial tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.43,Europe
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Europe
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.112,Austria
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.361,Belgium
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.201,Bulgaria
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.147,Croatia
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.165,Czech Republic
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Estonia
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.359,Finland
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.182,Germany
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.383,Iceland
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.395,Ireland
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.227,Italy
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.162,Latvia
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.166,Lithuania
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.534,Malta
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.425,Norway
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.118,Poland
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.119,Portugal
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.273,Slovakia
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.388,Slovenia
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.343,Spain
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.282,Switzerland
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.342,Netherlands
398971,Clear cell adenocarcinoma of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.451,United Kingdom
398124,Neonatal lupus erythematosus,Prevalence at birth,Value and class,1-9 / 100 000,5.0,United States
398124,Neonatal lupus erythematosus,Point prevalence,Value and class,1-9 / 1 000 000,5.0,United States
398127,Neonatal scleroderma,Cases/families,Case(s),,6.0,Worldwide
398127,Neonatal scleroderma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398147,Persistent idiopathic facial pain,Point prevalence,Class only,Unknown,0.0,Worldwide
398147,Persistent idiopathic facial pain,Annual incidence,Value and class,1-9 / 100 000,4.4,Netherlands
398147,Persistent idiopathic facial pain,Annual incidence,Value and class,1-9 / 100 000,1.0,Germany
398147,Persistent idiopathic facial pain,Lifetime Prevalence,Value and class,1-5 / 10 000,30.0,Germany
398156,Oculoauriculofrontonasal syndrome,Cases/families,Case(s),,41.0,Worldwide
398156,Oculoauriculofrontonasal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398166,Focal facial dermal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398166,Focal facial dermal dysplasia,Cases/families,Case(s),,147.0,Worldwide
398173,Focal facial dermal dysplasia type II,Cases/families,Case(s),,22.0,Worldwide
398173,Focal facial dermal dysplasia type II,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398189,Focal facial dermal dysplasia type IV,Cases/families,Case(s),,21.0,Worldwide
398189,Focal facial dermal dysplasia type IV,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398069,Schaaf-Yang syndrome,Cases/families,Case(s),,250.0,Worldwide
398069,Schaaf-Yang syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398073,Prader-Willi-like syndrome,Cases/families,Case(s),,117.0,Worldwide
398073,Prader-Willi-like syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
398079,SIM1-related Prader-Willi-like syndrome,Cases/families,Case(s),,4.0,Worldwide
398079,SIM1-related Prader-Willi-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398088,Hereditary cryohydrocytosis with normal stomatin,Cases/families,Case(s),,53.0,Worldwide
398088,Hereditary cryohydrocytosis with normal stomatin,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398097,Neonatal antiphospholipid syndrome,Cases/families,Case(s),,34.0,Worldwide
398097,Neonatal antiphospholipid syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398109,Neonatal autoimmune hemolytic anemia,Cases/families,Case(s),,2.0,Worldwide
398109,Neonatal autoimmune hemolytic anemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
398117,Neonatal dermatomyositis,Cases/families,Case(s),,3.0,Worldwide
398117,Neonatal dermatomyositis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435628,Keppen-Lubinsky syndrome,Cases/families,Case(s),,3.0,Worldwide
435628,Keppen-Lubinsky syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435660,LIPE-related familial partial lipodystrophy,Cases/families,Case(s),,4.0,Worldwide
435660,LIPE-related familial partial lipodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435651,CIDEC-related familial partial lipodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435651,CIDEC-related familial partial lipodystrophy,Cases/families,Case(s),,1.0,Worldwide
435638,3p25.3 microdeletion syndrome,Cases/families,Case(s),,8.0,Worldwide
435638,3p25.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,Cases/families,Family(ies),,3.0,Worldwide
435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435845,Lethal neonatal spasticity-epileptic encephalopathy syndrome,Cases/families,Case(s),,8.0,Worldwide
435845,Lethal neonatal spasticity-epileptic encephalopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,Cases/families,Case(s),,3.0,Worldwide
435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435819,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Cases/families,Case(s),,2.0,Worldwide
435819,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,Cases/families,Case(s),,3.0,Worldwide
435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435988,Chronic atrial and intestinal dysrhythmia syndrome,Cases/families,Case(s),,17.0,Worldwide
435988,Chronic atrial and intestinal dysrhythmia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435934,COG2-CDG,Cases/families,Case(s),,1.0,Worldwide
435934,COG2-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435938,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,Cases/families,Case(s),,3.0,Worldwide
435938,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436141,HIDEA syndrome,Cases/families,Case(s),,6.0,Worldwide
436141,HIDEA syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436144,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,Cases/families,Case(s),,15.0,Worldwide
436144,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,Cases/families,Case(s),,4.0,Worldwide
435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436003,Contractures-developmental delay-Pierre Robin syndrome,Cases/families,Case(s),,6.0,Worldwide
436003,Contractures-developmental delay-Pierre Robin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,Cases/families,Case(s),,17.0,Worldwide
436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436169,Thrombomodulin-related bleeding disorder,Cases/families,Case(s),,15.0,Worldwide
436169,Thrombomodulin-related bleeding disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,Cases/families,Case(s),,4.0,Worldwide
436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436182,Microcephalic primordial dwarfism-insulin resistance syndrome,Cases/families,Case(s),,2.0,Worldwide
436182,Microcephalic primordial dwarfism-insulin resistance syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,Cases/families,Case(s),,3.0,Worldwide
436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,Cases/families,Case(s),,3.0,Worldwide
436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436242,Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,Cases/families,Case(s),,7.0,Worldwide
436242,Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
436274,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,Cases/families,Case(s),,13.0,Worldwide
436274,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,Cases/families,Case(s),,3.0,Worldwide
437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438178,Fatty acyl-CoA reductase 1 deficiency,Cases/families,Case(s),,3.0,Worldwide
438178,Fatty acyl-CoA reductase 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438159,STAT3-related early-onset multisystem autoimmune disease,Cases/families,Case(s),,19.0,Worldwide
438159,STAT3-related early-onset multisystem autoimmune disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,Cases/families,Case(s),,4.0,Worldwide
438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438117,Steel syndrome,Cases/families,Case(s),,40.0,Worldwide
438117,Steel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,Cases/families,Case(s),,4.0,Worldwide
438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,Cases/families,Case(s),,9.0,Worldwide
438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438279,Human infection by orthopoxvirus,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
438274,GCGR-related hyperglucagonemia,Cases/families,Case(s),,8.0,Worldwide
438274,GCGR-related hyperglucagonemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438266,Progressive encephalomyelitis with rigidity and myoclonus,Point prevalence,Class only,Unknown,0.0,Europe
438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,Cases/families,Case(s),,24.0,Worldwide
438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438213,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,Cases/families,Case(s),,24.0,Worldwide
438213,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
438207,Severe autosomal recessive macrothrombocytopenia,Cases/families,Case(s),,2.0,Worldwide
438207,Severe autosomal recessive macrothrombocytopenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439232,AApoAIV amyloidosis,Cases/families,Case(s),,2.0,Worldwide
439232,AApoAIV amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,Cases/families,Case(s),,13.0,Worldwide
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439218,KCNQ2-related developmental and epileptic encephalopathy,Cases/families,Family(ies),,11.0,Worldwide
439218,KCNQ2-related developmental and epileptic encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439196,Zinc-responsive necrolytic acral erythema,Point prevalence,Class only,Unknown,0.0,Worldwide
439167,Placental insufficiency,Point prevalence,Value and class,1-5 / 10 000,33.0,Worldwide
439822,PDE4D haploinsufficiency syndrome,Cases/families,Case(s),,7.0,Worldwide
439822,PDE4D haploinsufficiency syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439254,ITM2B amyloidosis,Cases/families,Family(ies),,2.0,Worldwide
439254,ITM2B amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,Cases/families,Case(s),,10.0,Worldwide
439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,Cases/families,Case(s),,2.0,Worldwide
439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
439881,Plastic bronchitis,Point prevalence,Class only,Unknown,0.0,Worldwide
440402,Interstitial lung disease due to ABCA3 deficiency,Cases/families,Case(s),,19.0,Worldwide
440402,Interstitial lung disease due to ABCA3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440354,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440354,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,Cases/families,Family(ies),,1.0,Worldwide
440392,Interstitial lung disease due to SP-C deficiency,Cases/families,Case(s),,21.0,Worldwide
440392,Interstitial lung disease due to SP-C deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440713,Isolated sedoheptulokinase deficiency,Cases/families,Case(s),,2.0,Worldwide
440713,Isolated sedoheptulokinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440727,Combined hamartoma of the retina and retinal pigment epithelium,Cases/families,Case(s),,120.0,Worldwide
440727,Combined hamartoma of the retina and retinal pigment epithelium,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440731,L-ferritin deficiency,Cases/families,Case(s),,2.0,Worldwide
440731,L-ferritin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440427,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,Cases/families,Case(s),,26.0,Worldwide
440427,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440706,Ribose-5-P isomerase deficiency,Cases/families,Case(s),,1.0,Worldwide
440706,Ribose-5-P isomerase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
440987,Isolated agenesis of gallbladder,Point prevalence,Value and class,1-5 / 10 000,25.0,Worldwide
443084,Baroreflex failure,Point prevalence,Class only,Unknown,0.0,Worldwide
443073,Charcot-Marie-Tooth disease type 2S,Cases/families,Case(s),,35.0,Worldwide
443073,Charcot-Marie-Tooth disease type 2S,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
442835,Non-specific early-onset epileptic encephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
442582,AH amyloidosis,Cases/families,Case(s),,12.0,Worldwide
442582,AH amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
443197,X-linked erythropoietic protoporphyria,Cases/families,Case(s),,50.0,Worldwide
443197,X-linked erythropoietic protoporphyria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
3008,Pyruvate carboxylase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
3008,Pyruvate carboxylase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
443192,Classic stiff person syndrome,Point prevalence,Class only,Unknown,0.0,Europe
595,Centronuclear myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
443180,Spontaneous intracranial hypotension,Annual incidence,Value and class,1-9 / 100 000,5.0,Worldwide
443173,Postpartum psychosis,Point prevalence,Value and class,1-9 / 100 000,4.0,Worldwide
298,Mitochondrial neurogastrointestinal encephalomyopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
298,Mitochondrial neurogastrointestinal encephalomyopathy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Israel
298,Mitochondrial neurogastrointestinal encephalomyopathy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Specific population
396,Chronic hiccup,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,Cases/families,Case(s),,2.0,Worldwide
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
552,MODY,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
552,MODY,Point prevalence,Value and class,1-5 / 10 000,10.0,United Kingdom
854,Non-malignant and non-cirrhotic portal vein thrombosis,Point prevalence,Value and class,1-9 / 100 000,3.7,Sweden
854,Non-malignant and non-cirrhotic portal vein thrombosis,Annual incidence,Value and class,1-9 / 1 000 000,0.7,Sweden
854,Non-malignant and non-cirrhotic portal vein thrombosis,Point prevalence,Class only,Unknown,0.0,Europe
854,Non-malignant and non-cirrhotic portal vein thrombosis,Annual incidence,Value and class,,2.75,Italy
854,Non-malignant and non-cirrhotic portal vein thrombosis,Annual incidence,Value and class,1-9 / 100 000,1.72,Europe
443098,Hyperostosis cranialis interna,Cases/families,Case(s),,13.0,Worldwide
443098,Hyperostosis cranialis interna,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",Cases/families,Family(ies),,2.0,Worldwide
443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
443167,NUT midline carcinoma,Cases/families,Case(s),,310.0,Worldwide
443167,NUT midline carcinoma,Point prevalence,Value and class,<1 / 1 000 000,2.0E-4,Worldwide
130,Brugada syndrome,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
130,Brugada syndrome,Point prevalence,Value and class,6-9 / 10 000,75.0,South East Asia
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Europe
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
443162,NDE1-related microhydranencephaly,Cases/families,Family(ies),,1.0,Worldwide
443162,NDE1-related microhydranencephaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
443804,Focal stiff limb syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
443804,Focal stiff limb syndrome,Point prevalence,Class only,Unknown,0.0,Europe
443811,PGM3-CDG,Cases/families,Case(s),,20.0,Worldwide
443811,PGM3-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
443950,DNAJB2-related Charcot-Marie-Tooth disease type 2,Cases/families,Case(s),,2.0,Worldwide
443950,DNAJB2-related Charcot-Marie-Tooth disease type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
443988,Ventriculomegaly-cystic kidney disease,Cases/families,Case(s),,11.0,Worldwide
443988,Ventriculomegaly-cystic kidney disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444092,Autoimmune interstitial lung disease-arthritis syndrome,Cases/families,Family(ies),,5.0,Worldwide
444092,Autoimmune interstitial lung disease-arthritis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444099,Autosomal dominant spastic paraplegia type 73,Cases/families,Family(ies),,1.0,Worldwide
444099,Autosomal dominant spastic paraplegia type 73,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444138,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,Cases/families,Case(s),,4.0,Worldwide
444138,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444002,11q22.2q22.3 microdeletion syndrome,Cases/families,Case(s),,5.0,Worldwide
444002,11q22.2q22.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
443995,Mandibulofacial dysostosis with alopecia,Cases/families,Case(s),,4.0,Worldwide
443995,Mandibulofacial dysostosis with alopecia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444048,"46,XX ovarian dysgenesis-short stature syndrome",Cases/families,Case(s),,3.0,Worldwide
444048,"46,XX ovarian dysgenesis-short stature syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444013,Combined oxidative phosphorylation defect type 23,Cases/families,Case(s),,11.0,Worldwide
444013,Combined oxidative phosphorylation defect type 23,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444069,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,Cases/families,Case(s),,4.0,Worldwide
444069,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444051,20q11.2 microdeletion syndrome,Cases/families,Case(s),,11.0,Worldwide
444051,20q11.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444077,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,Cases/families,Case(s),,11.0,Worldwide
444077,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444072,Cerebellar-facial-dental syndrome,Cases/families,Family(ies),,3.0,Worldwide
444072,Cerebellar-facial-dental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444463,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency,Cases/families,Case(s),,6.0,Worldwide
444463,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444490,Familial chylomicronemia syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,United States
444490,Familial chylomicronemia syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.97,Europe
444458,Combined oxidative phosphorylation defect type 24,Cases/families,Case(s),,3.0,Worldwide
444458,Combined oxidative phosphorylation defect type 24,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
445110,Limb-girdle muscular dystrophy due to POMK deficiency,Cases/families,Case(s),,2.0,Worldwide
445110,Limb-girdle muscular dystrophy due to POMK deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,Cases/families,Case(s),,5.0,Worldwide
445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
445038,3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome,Cases/families,Case(s),,22.0,Worldwide
445038,3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
445018,Syndromic autoimmune enteropathy due to LRBA deficiency,Cases/families,Case(s),,23.0,Worldwide
445018,Syndromic autoimmune enteropathy due to LRBA deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447731,NIK deficiency,Cases/families,Case(s),,2.0,Worldwide
447731,NIK deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447737,Combined immunodeficiency due to DOCK2 deficiency,Cases/families,Case(s),,5.0,Worldwide
447737,Combined immunodeficiency due to DOCK2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447881,Idiopathic dropped head syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
447896,Tremor-ataxia-central hypomyelination syndrome,Cases/families,Case(s),,7.0,Worldwide
447896,Tremor-ataxia-central hypomyelination syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447893,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,Cases/families,Case(s),,4.0,Worldwide
447893,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447788,Cerebral visual impairment,Point prevalence,Class only,Unknown,0.0,Worldwide
447795,Lipoyl transferase 2 deficiency,Point prevalence,Class only,Not yet documented,0.0,Worldwide
447784,Mitochondrial pyruvate carrier deficiency,Cases/families,Case(s),,4.0,Worldwide
447784,Mitochondrial pyruvate carrier deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447757,Autosomal dominant spastic paraplegia type 9B,Cases/families,Family(ies),,3.0,Worldwide
447757,Autosomal dominant spastic paraplegia type 9B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447753,Autosomal dominant spastic paraplegia type 9A,Cases/families,Family(ies),,2.0,Worldwide
447753,Autosomal dominant spastic paraplegia type 9A,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
447760,Autosomal recessive spastic paraplegia type 9B,Cases/families,Family(ies),,2.0,Worldwide
447760,Autosomal recessive spastic paraplegia type 9B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412066,PRKAR1B-related neurodegenerative dementia with intermediate filaments,Cases/families,Case(s),,12.0,Worldwide
412066,PRKAR1B-related neurodegenerative dementia with intermediate filaments,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,Cases/families,Family(ies),,10.0,Worldwide
412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412181,Epidermolysis bullosa simplex due to BP230 deficiency,Cases/families,Case(s),,2.0,Worldwide
412181,Epidermolysis bullosa simplex due to BP230 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,Cases/families,Case(s),,4.0,Worldwide
412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,Cases/families,Case(s),,3.0,Worldwide
412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412217,Dystonia-aphonia syndrome,Cases/families,Case(s),,32.0,Worldwide
412217,Dystonia-aphonia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
412206,Primary failure of tooth eruption,Cases/families,Case(s),,314.0,Worldwide
412206,Primary failure of tooth eruption,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
418959,Squamous cell carcinoma of the stomach,Point prevalence,Class only,Unknown,0.0,Worldwide
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.115,Europe
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.063,Austria
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.025,Belgium
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.08,Bulgaria
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.034,Croatia
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.092,Czech Republic
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.176,Estonia
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.065,Finland
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.08,France
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.079,Germany
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.207,Ireland
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Italy
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.401,Latvia
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.137,Lithuania
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.031,Malta
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.046,Norway
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.04,Poland
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.115,Portugal
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.111,Slovakia
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Slovenia
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.128,Spain
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.051,Switzerland
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,<1 / 1 000 000,0.053,Netherlands
418959,Squamous cell carcinoma of the stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.18,United Kingdom
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.004,Europe
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.003,Austria
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.017,Belgium
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.002,Bulgaria
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.007,Czech Republic
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.009,Estonia
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.004,Germany
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.009,Ireland
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.001,Italy
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.003,Poland
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.013,Slovakia
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.006,Slovenia
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.003,Spain
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.002,Netherlands
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.005,France
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.008,Portugal
418945,"Carcinoma of esophagus, salivary gland type",Annual incidence,Value and class,<1 / 1 000 000,0.004,United Kingdom
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.044,Europe
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.029,Austria
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.077,Belgium
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.027,Bulgaria
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.006,Croatia
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,1-9 / 1 000 000,0.115,Czech Republic
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.037,Estonia
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,1-9 / 1 000 000,0.118,France
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.042,Germany
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.085,Iceland
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.012,Ireland
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.041,Italy
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.087,Latvia
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.021,Lithuania
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.038,Norway
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,1-9 / 1 000 000,0.101,Poland
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.021,Portugal
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.082,Slovakia
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.013,Slovenia
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.051,Spain
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.023,Switzerland
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.025,Netherlands
418951,Undifferentiated carcinoma of esophagus,Annual incidence,Value and class,<1 / 1 000 000,0.039,United Kingdom
420179,Malan overgrowth syndrome,Cases/families,Case(s),,20.0,Worldwide
420179,Malan overgrowth syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
415286,Bilirubin encephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
420789,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,Cases/families,Case(s),,10.0,Worldwide
420789,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420794,Cono-spondylar dysplasia,Cases/families,Case(s),,3.0,Worldwide
420794,Cono-spondylar dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,Cases/families,Case(s),,4.0,Worldwide
420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420728,Combined oxidative phosphorylation defect type 20,Cases/families,Case(s),,2.0,Worldwide
420728,Combined oxidative phosphorylation defect type 20,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420733,Combined oxidative phosphorylation defect type 21,Cases/families,Case(s),,2.0,Worldwide
420733,Combined oxidative phosphorylation defect type 21,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420741,RIDDLE syndrome,Cases/families,Case(s),,2.0,Worldwide
420741,RIDDLE syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420492,"Adult-onset cervical dystonia, DYT23 type",Cases/families,Family(ies),,2.0,Worldwide
420492,"Adult-onset cervical dystonia, DYT23 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420402,Semicircular canal dehiscence syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",Prevalence at birth,Value and class,1-9 / 100 000,1.75,Worldwide
420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,Cases/families,Case(s),,112.0,Worldwide
420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420699,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,Cases/families,Case(s),,2.0,Worldwide
420699,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420686,Woolly hair-palmoplantar keratoderma syndrome,Cases/families,Case(s),,8.0,Worldwide
420686,Woolly hair-palmoplantar keratoderma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420561,Temple-Baraitser syndrome,Cases/families,Case(s),,9.0,Worldwide
420561,Temple-Baraitser syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420573,Severe combined immunodeficiency due to CTPS1 deficiency,Cases/families,Case(s),,12.0,Worldwide
420573,Severe combined immunodeficiency due to CTPS1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
420566,Bleeding disorder due to CalDAG-GEFI deficiency,Cases/families,Case(s),,3.0,Worldwide
420566,Bleeding disorder due to CalDAG-GEFI deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
423461,Mucolipidosis type III alpha/beta,Point prevalence,Value and class,1-5 / 10 000,13.0,Worldwide
423470,Mucolipidosis type III gamma,Point prevalence,Class only,Unknown,0.0,Worldwide
423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,Cases/families,Case(s),,6.0,Worldwide
423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
423384,Severe congenital neutropenia due to JAGN1 deficiency,Cases/families,Case(s),,14.0,Worldwide
423384,Severe congenital neutropenia due to JAGN1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
423296,Spinocerebellar ataxia type 38,Cases/families,Family(ies),,4.0,Worldwide
423296,Spinocerebellar ataxia type 38,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
423306,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
423306,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
423717,Cutaneous larva migrans,Point prevalence,Class only,Unknown,0.0,Worldwide
423479,X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency,Cases/families,Case(s),,2.0,Worldwide
423479,X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
422526,Hereditary clear cell renal cell carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
423275,Spinocerebellar ataxia type 40,Cases/families,Case(s),,5.0,Worldwide
423275,Spinocerebellar ataxia type 40,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.003,Europe
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.003,Austria
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.008,Belgium
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.003,Croatia
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.011,Czech Republic
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.005,France
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.004,Germany
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.005,Italy
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.003,Norway
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.009,Spain
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.002,Netherlands
424065,Pancreatic solid pseudopapillary neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.001,United Kingdom
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.011,Europe
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.017,Belgium
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.028,Czech Republic
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.031,France
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.048,Germany
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Ireland
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Italy
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.041,Norway
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Portugal
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.018,Spain
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.028,Switzerland
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.016,Netherlands
424058,Intraductal papillary mucinous carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.001,United Kingdom
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.002,Belgium
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Czech Republic
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.003,France
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.001,Germany
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.001,Italy
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.004,Lithuania
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.004,Netherlands
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.001,Europe
424073,Serous cystadenocarcinoma of pancreas,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
424073,Serous cystadenocarcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.002,Belgium
424073,Serous cystadenocarcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
424073,Serous cystadenocarcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.001,Germany
424107,Congenital myopathy with myasthenic-like onset,Cases/families,Case(s),,2.0,Worldwide
424107,Congenital myopathy with myasthenic-like onset,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,Cases/families,Family(ies),,5.0,Worldwide
424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
424261,TOR1AIP1-related limb-girdle muscular dystrophy,Cases/families,Case(s),,3.0,Worldwide
424261,TOR1AIP1-related limb-girdle muscular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.253,Europe
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.238,Austria
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.226,Belgium
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.485,Bulgaria
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,<1 / 1 000 000,0.076,Croatia
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.269,Czech Republic
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Estonia
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.105,Finland
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,<1 / 1 000 000,0.09,France
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Germany
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.256,Iceland
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.299,Ireland
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.499,Italy
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.287,Latvia
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.215,Lithuania
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.144,Norway
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.217,Poland
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.406,Portugal
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.382,Slovakia
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.343,Spain
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.135,Switzerland
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Netherlands
424016,Adenocarcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.26,United Kingdom
424027,Progressive myoclonic epilepsy type 8,Cases/families,Case(s),,4.0,Worldwide
424027,Progressive myoclonic epilepsy type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.81,Europe
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.923,Austria
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.707,Belgium
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.268,Bulgaria
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.251,Croatia
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.568,Czech Republic
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Estonia
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.464,Finland
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 100 000,1.096,France
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 100 000,1.307,Germany
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.809,Iceland
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.416,Ireland
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.872,Italy
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.238,Latvia
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.153,Lithuania
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 100 000,1.071,Norway
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.411,Poland
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.603,Portugal
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.194,Slovakia
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.331,Spain
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 100 000,1.712,Switzerland
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 1 000 000,0.621,Netherlands
424019,Squamous cell carcinoma of the anal canal,Annual incidence,Value and class,1-9 / 100 000,1.038,United Kingdom
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.023,Europe
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.044,Austria
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Belgium
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.027,Bulgaria
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.028,Croatia
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.045,Czech Republic
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.028,Estonia
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.012,Finland
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.015,France
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.032,Germany
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.034,Ireland
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.019,Italy
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.06,Latvia
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.058,Lithuania
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.003,Norway
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.008,Poland
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.016,Portugal
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.005,Slovakia
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.027,Spain
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Switzerland
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.011,Netherlands
424039,Squamous cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.023,United Kingdom
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
424053,Mucinous cystadenocarcinoma of the pancreas,Point prevalence,Class only,Unknown,0.0,Europe
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Belgium
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.002,Bulgaria
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.002,Czech Republic
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.012,Finland
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.003,France
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.012,Germany
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.019,Italy
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.004,Portugal
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.024,Spain
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Switzerland
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.019,Netherlands
424053,Mucinous cystadenocarcinoma of the pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.004,United Kingdom
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.029,Europe
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.049,Austria
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.039,Belgium
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.034,Bulgaria
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.006,Croatia
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.044,Czech Republic
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.083,Estonia
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.024,Finland
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.01,France
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.058,Germany
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.028,Ireland
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.039,Italy
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.07,Latvia
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.027,Norway
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.005,Poland
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.02,Portugal
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.05,Slovakia
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.024,Spain
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.039,Switzerland
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.017,Netherlands
424046,Acinar cell carcinoma of pancreas,Annual incidence,Value and class,<1 / 1 000 000,0.016,United Kingdom
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.008,Europe
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.008,Austria
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.008,Belgium
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.002,Bulgaria
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.006,Croatia
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.013,Czech Republic
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.008,France
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.004,Germany
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.012,Ireland
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.007,Italy
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.022,Latvia
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.003,Norway
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.003,Poland
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.02,Portugal
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.005,Slovakia
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.027,Spain
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.011,Switzerland
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.002,Netherlands
423968,Squamous cell carcinoma of the small intestine,Annual incidence,Value and class,<1 / 1 000 000,0.012,United Kingdom
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.026,Europe
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.072,Austria
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.014,Belgium
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.035,Bulgaria
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.008,Croatia
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.022,Czech Republic
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.009,Estonia
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.014,Finland
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.026,France
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.028,Germany
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.025,Ireland
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.041,Italy
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Latvia
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.037,Lithuania
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.003,Norway
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.01,Poland
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.035,Portugal
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.027,Slovakia
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.024,Spain
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.017,Switzerland
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.01,Netherlands
423994,Squamous cell carcinoma of the colon,Annual incidence,Value and class,<1 / 1 000 000,0.021,United Kingdom
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.113,Europe
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.126,Austria
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.052,Belgium
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.088,Bulgaria
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.017,Croatia
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Czech Republic
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.157,Estonia
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.045,Finland
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.074,France
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.083,Germany
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.128,Iceland
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.096,Ireland
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.149,Italy
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.346,Latvia
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.116,Lithuania
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.071,Norway
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.111,Poland
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.119,Portugal
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.05,Slovakia
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.042,Spain
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.084,Switzerland
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,<1 / 1 000 000,0.028,Netherlands
424002,Squamous cell carcinoma of the rectum,Annual incidence,Value and class,1-9 / 1 000 000,0.143,United Kingdom
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.211,Europe
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.086,Austria
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.077,Belgium
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.764,Bulgaria
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.068,Croatia
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.328,Czech Republic
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 100 000,2.743,Estonia
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.1,France
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.221,Germany
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.085,Iceland
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.009,Ireland
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.399,Italy
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 100 000,2.571,Latvia
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.877,Lithuania
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.251,Malta
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.087,Norway
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.386,Poland
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.072,Portugal
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,1-9 / 1 000 000,0.456,Slovakia
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.013,Slovenia
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.098,Spain
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.045,Switzerland
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.02,Netherlands
423786,Undifferentiated carcinoma of stomach,Annual incidence,Value and class,<1 / 1 000 000,0.032,United Kingdom
423894,Microcephaly-complex motor and sensory axonal neuropathy syndrome,Cases/families,Case(s),,3.0,Worldwide
423894,Microcephaly-complex motor and sensory axonal neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
431140,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,Cases/families,Family(ies),,1.0,Worldwide
431140,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
425120,STING-associated vasculopathy with onset in infancy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
425120,STING-associated vasculopathy with onset in infancy,Cases/families,Case(s),,9.0,Worldwide
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.412,Europe
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.715,Austria
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.201,Belgium
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.219,Bulgaria
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.659,Czech Republic
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.471,Estonia
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.309,Finland
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.262,France
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.582,Germany
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.256,Iceland
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.642,Italy
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.426,Lithuania
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.267,Norway
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.481,Poland
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.365,Portugal
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.154,Slovakia
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.471,Spain
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.377,United Kingdom
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.753,Croatia
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.157,Ireland
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.206,Latvia
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.467,Switzerland
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.118,Netherlands
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.015,Europe
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.011,Austria
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.056,Czech Republic
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.046,Estonia
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.01,France
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.02,Germany
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.03,Bulgaria
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.006,Ireland
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.019,Italy
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.049,Latvia
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.033,Lithuania
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.011,Norway
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.013,Poland
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.016,Portugal
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.098,Slovakia
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.015,Spain
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.028,Switzerland
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.005,United Kingdom
424991,Adenocarcinoma of the gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-9 / 100 000,2.62,Europe
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.032,Europe
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.026,Austria
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.006,Belgium
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.027,Bulgaria
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.025,Croatia
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-9 / 1 000 000,0.124,Czech Republic
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.037,Estonia
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.026,Finland
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.018,France
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.055,Germany
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.018,Ireland
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.037,Italy
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.005,Latvia
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.033,Lithuania
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.016,Norway
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.015,Poland
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.002,Portugal
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.077,Slovakia
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.042,Spain
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.051,Switzerland
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.014,Netherlands
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.021,United Kingdom
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.009,Europe
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.009,Austria
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.003,Bulgaria
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.018,Czech Republic
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.009,Estonia
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.007,Finland
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.008,France
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.004,Germany
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.019,Italy
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.016,Latvia
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.004,Lithuania
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.003,Norway
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.005,Poland
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.006,Portugal
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.003,Slovakia
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.017,Switzerland
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.002,Netherlands
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Annual incidence,Value and class,<1 / 1 000 000,0.014,United Kingdom
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Europe
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Austria
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Belgium
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Bulgaria
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Czech Republic
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Estonia
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,France
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Germany
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Italy
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Latvia
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.003,Norway
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Portugal
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Spain
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Netherlands
424982,Biliary cystadenocarcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,United Kingdom
431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,Cases/families,Case(s),,2.0,Worldwide
431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
431353,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,Annual incidence,Value and class,<1 / 1 000 000,0.015,France
431341,Patent urachus,Prevalence at birth,Value and class,1-9 / 100 000,1.75,United States
431341,Patent urachus,Point prevalence,Class only,Unknown,0.0,Worldwide
431344,Urachal sinus,Point prevalence,Class only,Unknown,0.0,Worldwide
431272,X-linked scapuloperoneal muscular dystrophy,Cases/families,Case(s),,22.0,Worldwide
431272,X-linked scapuloperoneal muscular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
431329,Autosomal recessive spastic paraplegia type 57,Cases/families,Case(s),,2.0,Worldwide
431329,Autosomal recessive spastic paraplegia type 57,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
431255,Scapuloperoneal spinal muscular atrophy,Cases/families,Case(s),,31.0,Worldwide
431255,Scapuloperoneal spinal muscular atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
431149,Combined immunodeficiency due to OX40 deficiency,Cases/families,Case(s),,1.0,Worldwide
431149,Combined immunodeficiency due to OX40 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,Cases/families,Case(s),,1.0,Worldwide
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435438,Progressive myoclonic epilepsy type 7,Cases/families,Case(s),,13.0,Worldwide
435438,Progressive myoclonic epilepsy type 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,Cases/families,Case(s),,7.0,Worldwide
435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
435329,Familial ossifying fibroma,Point prevalence,Class only,Unknown,0.0,Worldwide
434179,Orofaciodigital syndrome type 14,Cases/families,Family(ies),,2.0,Worldwide
434179,Orofaciodigital syndrome type 14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
504476,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
504476,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,Cases/families,Case(s),,100.0,Worldwide
504523,Severe combined immunodeficiency due to LAT deficiency,Cases/families,Case(s),,3.0,Worldwide
504523,Severe combined immunodeficiency due to LAT deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
504530,Combined immunodeficiency due to Moesin deficiency,Cases/families,Case(s),,7.0,Worldwide
504530,Combined immunodeficiency due to Moesin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
26793,Very long chain acyl-CoA dehydrogenase deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
26793,Very long chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Australia
26793,Very long chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.8,United States
26793,Very long chain acyl-CoA dehydrogenase deficiency,Point prevalence,Value and class,1-9 / 100 000,2.0,Germany
26793,Very long chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.3,Israel
26793,Very long chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.3,Specific population
26793,Very long chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.45,Czech Republic
29072,Hereditary pheochromocytoma-paraganglioma,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Worldwide
29072,Hereditary pheochromocytoma-paraganglioma,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
28378,Tyrosinemia type 2,Cases/families,Case(s),,150.0,Worldwide
28378,Tyrosinemia type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
29207,Reactive arthritis,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
29073,Multiple myeloma,Prevalence at birth,Value and class,1-9 / 100 000,3.8,United States
29073,Multiple myeloma,Annual incidence,Value and class,1-9 / 100 000,6.0,Worldwide
29073,Multiple myeloma,Point prevalence,Value and class,1-5 / 10 000,11.9,Europe
29073,Multiple myeloma,Annual incidence,Value and class,1-9 / 100 000,7.7,France
29073,Multiple myeloma,Annual incidence,Value and class,1-9 / 100 000,2.4,Europe
29073,Multiple myeloma,Annual incidence,Value and class,1-9 / 100 000,5.6,United States
29073,Multiple myeloma,Annual incidence,Value and class,1-9 / 100 000,2.0,"Iran, Islamic Republic of"
29073,Multiple myeloma,Annual incidence,Value and class,1-9 / 100 000,5.1,Australia
29073,Multiple myeloma,Annual incidence,Value and class,1-9 / 100 000,6.2,Denmark
29822,Spontaneous periodic hypothermia,Cases/families,Case(s),,50.0,Worldwide
29822,Spontaneous periodic hypothermia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
30391,Isolated biliary atresia,Point prevalence,Value and class,1-5 / 10 000,10.6,Specific population
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Europe
30391,Isolated biliary atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Belgium
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,5.9,France
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-5 / 10 000,11.9,Germany
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,4.2,Italy
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-5 / 10 000,16.6,Netherlands
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Norway
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Spain
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Switzerland
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,2.3,United Kingdom
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-5 / 10 000,12.7,Ukraine
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-5 / 10 000,18.5,Worldwide
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,7.4,Japan
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,7.0,United States
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-5 / 10 000,32.0,French Polynesia
30391,Isolated biliary atresia,Prevalence at birth,Value and class,1-9 / 100 000,7.0,Australia
320,Apparent mineralocorticoid excess,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
724,Idiopathic acute eosinophilic pneumonia,Cases/families,Case(s),,100.0,Worldwide
724,Idiopathic acute eosinophilic pneumonia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
230,Dopamine beta-hydroxylase deficiency,Cases/families,Case(s),,25.0,Worldwide
230,Dopamine beta-hydroxylase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
725,Developmental and epileptic encephalopathy with spike-wave activation in sleep,Point prevalence,Class only,Unknown,0.0,Worldwide
590,Congenital myasthenic syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
590,Congenital myasthenic syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.92,United Kingdom
404,Familial hyperaldosteronism type II,Point prevalence,Class only,Unknown,0.0,Worldwide
756,Pseudohypoaldosteronism type 1,Prevalence at birth,Value and class,1-9 / 100 000,2.12,United Kingdom
756,Pseudohypoaldosteronism type 1,Point prevalence,Class only,Unknown,0.0,Europe
162,Congenital cataract-anterior segment dysgenesis syndrome,Cases/families,Family(ies),,3.0,Worldwide
162,Congenital cataract-anterior segment dysgenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
544,Diffuse large B-cell lymphoma,Point prevalence,Value and class,1-5 / 10 000,43.0,Europe
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,6.5,France
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.79,Europe
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.765,Croatia
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.298,Latvia
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.227,Austria
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,5.51,Belgium
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.229,Bulgaria
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.304,Czech Republic
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.815,Estonia
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.244,Finland
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,4.586,Germany
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,4.559,Iceland
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.458,Ireland
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,6.47,Italy
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.984,Lithuania
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.827,Malta
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,5.115,Norway
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.673,Poland
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.635,Portugal
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.259,Slovakia
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,4.773,Slovenia
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,4.78,Spain
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,6.328,Switzerland
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,6.478,Netherlands
544,Diffuse large B-cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,4.931,United Kingdom
545,Follicular lymphoma,Point prevalence,Value and class,1-5 / 10 000,37.0,Europe
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.95,France
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.192,Europe
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.348,Bulgaria
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.72,Estonia
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.579,Finland
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.363,Latvia
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.277,Lithuania
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.368,Poland
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.52,Austria
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.04,Belgium
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.665,Croatia
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.687,Czech Republic
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.456,Germany
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.769,Iceland
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.08,Ireland
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.541,Italy
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.759,Malta
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,3.298,Norway
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.364,Portugal
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.046,Slovakia
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.389,Slovenia
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.375,Spain
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.916,Switzerland
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.977,Netherlands
545,Follicular lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.766,United Kingdom
88,Idiopathic aplastic anemia,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Europe
88,Idiopathic aplastic anemia,Annual incidence,Value and class,1-9 / 1 000 000,0.27,Brazil
102,Multiple system atrophy,Point prevalence,Value and class,1-9 / 100 000,3.7,Europe
102,Multiple system atrophy,Point prevalence,Value and class,1-9 / 100 000,3.5,Worldwide
102,Multiple system atrophy,Annual incidence,Value and class,1-9 / 100 000,1.8,Worldwide
102,Multiple system atrophy,Annual incidence,Value and class,1-9 / 1 000 000,0.7,Iceland
102,Multiple system atrophy,Point prevalence,Value and class,1-9 / 100 000,3.4,Iceland
102,Multiple system atrophy,Annual incidence,Value and class,1-9 / 100 000,2.1,Sweden
102,Multiple system atrophy,Point prevalence,Value and class,1-9 / 100 000,4.4,United Kingdom
102,Multiple system atrophy,Annual incidence,Value and class,1-9 / 1 000 000,0.6,United States
102,Multiple system atrophy,Point prevalence,Value and class,1-9 / 100 000,1.9,France
102,Multiple system atrophy,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Russian Federation
102,Multiple system atrophy,Point prevalence,Value and class,1-9 / 100 000,4.9,Italy
102,Multiple system atrophy,Point prevalence,Value and class,1-5 / 10 000,10.3,Japan
102,Multiple system atrophy,Point prevalence,Value and class,1-9 / 100 000,2.3,Faroe Islands
824,Primary myelofibrosis,Annual incidence,Value and class,1-9 / 100 000,1.0,Europe
824,Primary myelofibrosis,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
748,Mendelian susceptibility to mycobacterial diseases,Point prevalence,Class only,Unknown,0.0,Worldwide
729,Polycythemia vera,Annual incidence,Value and class,1-9 / 100 000,1.9,Europe
729,Polycythemia vera,Point prevalence,Value and class,1-5 / 10 000,30.0,Europe
729,Polycythemia vera,Point prevalence,Value and class,1-5 / 10 000,30.0,Italy
25980,X-linked myopathy with excessive autophagy,Cases/families,Family(ies),,36.0,Worldwide
25980,X-linked myopathy with excessive autophagy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
26137,Juvenile temporal arteritis,Cases/families,Case(s),,20.0,Worldwide
26137,Juvenile temporal arteritis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
26106,Hereditary diffuse gastric cancer,Annual incidence,Value and class,1-9 / 100 000,1.5,Europe
26106,Hereditary diffuse gastric cancer,Point prevalence,Class only,Unknown,0.0,Worldwide
505395,Ventilator-induced diaphragmatic dysfunction,Point prevalence,Class only,Unknown,0.0,Worldwide
25968,Self-limited childhood occipital epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
26790,Pseudomyxoma peritonei,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Worldwide
26790,Pseudomyxoma peritonei,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Netherlands
26790,Pseudomyxoma peritonei,Point prevalence,Class only,Unknown,0.0,Worldwide
26790,Pseudomyxoma peritonei,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
26792,Short chain acyl-CoA dehydrogenase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
26792,Short chain acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Netherlands
26791,Multiple acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.47,United States
26791,Multiple acyl-CoA dehydrogenase deficiency,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
26791,Multiple acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Israel
26791,Multiple acyl-CoA dehydrogenase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Specific population
49,Penile agenesis,Cases/families,Case(s),,80.0,Worldwide
49,Penile agenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
227,Diphallia,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Worldwide
227,Diphallia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
674,Accessory pancreas,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
353,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
353,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,Point prevalence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
353,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Japan
219,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
641,Multifocal motor neuropathy,Point prevalence,Value and class,1-9 / 100 000,1.5,Worldwide
641,Multifocal motor neuropathy,Point prevalence,Value and class,1-9 / 1 000 000,0.16,Japan
119,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,Point prevalence,Value and class,<1 / 1 000 000,0.07,United Kingdom
119,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
603,"Distal myopathy, Welander type",Point prevalence,Value and class,>1 / 1000,100.0,Sweden
603,"Distal myopathy, Welander type",Point prevalence,Class only,Unknown,0.0,Worldwide
505227,Combined immunodeficiency due to GINS1 deficiency,Cases/families,Case(s),,5.0,Worldwide
505227,Combined immunodeficiency due to GINS1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
588,Muscle-eye-brain disease,Point prevalence,Class only,Unknown,0.0,Worldwide
505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,Cases/families,Case(s),,12.0,Worldwide
505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
899,Walker-Warburg syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.03,United Kingdom
899,Walker-Warburg syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.65,Europe
899,Walker-Warburg syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
899,Walker-Warburg syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Italy
505216,3-methylglutaconic aciduria type 9,Cases/families,Case(s),,4.0,Worldwide
505216,3-methylglutaconic aciduria type 9,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
272,"Congenital muscular dystrophy, Fukuyama type",Prevalence at birth,Value and class,1-9 / 100 000,2.8,Japan
272,"Congenital muscular dystrophy, Fukuyama type",Point prevalence,Class only,Unknown,0.0,Worldwide
505208,3-methylglutaconic aciduria type 8,Cases/families,Case(s),,9.0,Worldwide
505208,3-methylglutaconic aciduria type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
268,Dysferlin-related limb-girdle muscular dystrophy R2,Point prevalence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
268,Dysferlin-related limb-girdle muscular dystrophy R2,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
263,Limb-girdle muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.81,Netherlands
263,Limb-girdle muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.27,United Kingdom
263,Limb-girdle muscular dystrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
263,Limb-girdle muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.55,Japan
263,Limb-girdle muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.32,Worldwide
263,Limb-girdle muscular dystrophy,Lifetime Prevalence,Value and class,1-9 / 100 000,5.7,Egypt
263,Limb-girdle muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,6.9,Spain
263,Limb-girdle muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.1,Ireland
600,Vocal cord and pharyngeal distal myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,Cases/families,Case(s),,19.0,Worldwide
505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
609,Tibial muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,6.0,Europe
609,Tibial muscular dystrophy,Point prevalence,Value and class,1-5 / 10 000,20.0,Finland
602,GNE myopathy,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
602,GNE myopathy,Point prevalence,Value and class,6-9 / 10 000,66.7,Specific population
505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,Cases/families,Case(s),,6.0,Worldwide
505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508093,MEPAN syndrome,Cases/families,Case(s),,7.0,Worldwide
508093,MEPAN syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508533,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,Cases/families,Case(s),,12.0,Worldwide
508533,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508542,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,Cases/families,Case(s),,5.0,Worldwide
508542,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508512,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,Cases/families,Case(s),,2.0,Worldwide
508512,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508529,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Cases/families,Case(s),,14.0,Worldwide
508529,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508523,Hyperphenylalaninemia due to DNAJC12 deficiency,Cases/families,Case(s),,6.0,Worldwide
508523,Hyperphenylalaninemia due to DNAJC12 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508488,8q24.3 microdeletion syndrome,Cases/families,Case(s),,2.0,Worldwide
508488,8q24.3 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508476,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Cases/families,Case(s),,7.0,Worldwide
508476,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508501,Orofaciodigital syndrome type 18,Cases/families,Case(s),,3.0,Worldwide
508501,Orofaciodigital syndrome type 18,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
508498,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,Cases/families,Case(s),,18.0,Worldwide
508498,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
505652,CDKL5-deficiency disorder,Point prevalence,Class only,Unknown,0.0,Worldwide
505652,CDKL5-deficiency disorder,Prevalence at birth,Value and class,1-9 / 1 000 000,0.21,Australia
505652,CDKL5-deficiency disorder,Prevalence at birth,Value and class,1-9 / 100 000,2.36,United Kingdom
505652,CDKL5-deficiency disorder,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
506307,Stromme syndrome,Cases/families,Case(s),,11.0,Worldwide
506307,Stromme syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
506358,Gabriele-de Vries syndrome,Cases/families,Case(s),,10.0,Worldwide
506358,Gabriele-de Vries syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
506353,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,Cases/families,Case(s),,4.0,Worldwide
506353,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
495274,Charcot-Marie-Tooth disease type 2T,Cases/families,Case(s),,10.0,Worldwide
495274,Charcot-Marie-Tooth disease type 2T,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,Cases/families,Case(s),,6.0,Worldwide
495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
495818,9q33.3q34.11 microdeletion syndrome,Cases/families,Case(s),,4.0,Worldwide
495818,9q33.3q34.11 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
495879,Congenital agenesis of the scrotum,Cases/families,Case(s),,6.0,Worldwide
495879,Congenital agenesis of the scrotum,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
495875,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
495875,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
495930,Familial monosomy 7 syndrome,Cases/families,Family(ies),,14.0,Worldwide
495930,Familial monosomy 7 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,Cases/families,Case(s),,39.0,Worldwide
496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,Cases/families,Case(s),,3.0,Worldwide
496689,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
496689,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,Cases/families,Case(s),,12.0,Worldwide
496693,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,Cases/families,Case(s),,7.0,Worldwide
496693,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
496751,EVEN-plus syndrome,Cases/families,Case(s),,3.0,Worldwide
496751,EVEN-plus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,Cases/families,Case(s),,6.0,Worldwide
496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,Cases/families,Case(s),,8.0,Worldwide
496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494433,MIRAGE syndrome,Cases/families,Case(s),,19.0,Worldwide
494433,MIRAGE syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,Cases/families,Case(s),,3.0,Worldwide
494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494424,Extracranial carotid artery aneurysm,Point prevalence,Class only,Unknown,0.0,Worldwide
494428,Idiopathic pleuroparenchymal fibroelastosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494428,Idiopathic pleuroparenchymal fibroelastosis,Cases/families,Case(s),,37.0,Worldwide
494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,Cases/families,Case(s),,8.0,Worldwide
494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494344,RERE-related neurodevelopmental syndrome,Cases/families,Case(s),,10.0,Worldwide
494344,RERE-related neurodevelopmental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494418,Vulvar carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.86,Worldwide
494547,Squamous cell carcinoma of the hypopharynx,Annual incidence,Value and class,1-9 / 100 000,1.27,Europe
494541,Childhood-onset benign chorea with striatal involvement,Cases/families,Case(s),,3.0,Worldwide
494541,Childhood-onset benign chorea with striatal involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494526,Infantile-onset generalized dyskinesia with orofacial involvement,Cases/families,Case(s),,8.0,Worldwide
494526,Infantile-onset generalized dyskinesia with orofacial involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
494550,Squamous cell carcinoma of the larynx,Annual incidence,Value and class,1-9 / 100 000,4.61,Europe
500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,Cases/families,Case(s),,7.0,Worldwide
500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500188,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,Cases/families,Case(s),,4.0,Worldwide
500188,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
68,Amoebiasis due to free-living amoebae,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
781,Q fever,Annual incidence,Value and class,<1 / 1 000 000,0.03,United States
781,Q fever,Annual incidence,Value and class,1-9 / 100 000,3.0,Australia
781,Q fever,Point prevalence,Class only,Unknown,0.0,Europe
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Europe
781,Q fever,Annual incidence,Value and class,<1 / 1 000 000,0.08,Belgium
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Bulgaria
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Croatia
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Cyprus
781,Q fever,Annual incidence,Value and class,<1 / 1 000 000,0.04,Finland
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.26,France
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Germany
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Greece
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.64,Hungary
781,Q fever,Annual incidence,Value and class,<1 / 1 000 000,0.06,Ireland
781,Q fever,Annual incidence,Value and class,<1 / 1 000 000,0.07,Latvia
781,Q fever,Annual incidence,Value and class,<1 / 1 000 000,0.04,Luxembourg
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Malta
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Netherlands
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Portugal
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Romania
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Slovenia
781,Q fever,Annual incidence,Class only,<1 / 1 000 000,0.0,Sweden
781,Q fever,Annual incidence,Value and class,1-9 / 1 000 000,0.1,United Kingdom
781,Q fever,Annual incidence,Value and class,<1 / 1 000 000,0.05,Norway
500150,ZTTK syndrome,Cases/families,Case(s),,33.0,Worldwide
500150,ZTTK syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,Cases/families,Case(s),,4.0,Worldwide
500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500163,Witteveen-Kolk syndrome,Cases/families,Case(s),,40.0,Worldwide
500163,Witteveen-Kolk syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
302,Inherited epidermodysplasia verruciformis,Cases/families,Case(s),,200.0,Worldwide
302,Inherited epidermodysplasia verruciformis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
297,Tick-borne encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
182,Chromomycosis,Point prevalence,Class only,Unknown,0.0,Worldwide
128,Diphyllobothriasis,Annual incidence,Value and class,1-9 / 1 000 000,0.88,France
128,Diphyllobothriasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
210,Cyclosporiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
76,Strongyloidiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
76,Strongyloidiasis,Annual incidence,Value and class,<1 / 1 000 000,0.06,Spain
74,Angiostrongyliasis,Point prevalence,Class only,Unknown,0.0,Worldwide
108,Babesiosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
78,Ankylostomiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,Cases/families,Case(s),,3.0,Worldwide
500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,Cases/families,Case(s),,5.0,Worldwide
500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500055,Hao-Fountain syndrome due to 16p13.2 microdeletion,Cases/families,Case(s),,6.0,Worldwide
500055,Hao-Fountain syndrome due to 16p13.2 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500095,Tall stature-intellectual disability-renal anomalies syndrome,Cases/families,Case(s),,4.0,Worldwide
500095,Tall stature-intellectual disability-renal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,Cases/families,Case(s),,5.0,Worldwide
500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
129,Pseudopelade of Brocq,Point prevalence,Class only,Unknown,0.0,Worldwide
123,Björnstad syndrome,Cases/families,Case(s),,33.0,Worldwide
123,Björnstad syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
898,Wagner disease,Cases/families,Case(s),,100.0,Worldwide
898,Wagner disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
500478,Squamous cell carcinoma of the oropharynx,Annual incidence,Value and class,1-9 / 100 000,3.12,Europe
518,Acute megakaryoblastic leukemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
518,Acute megakaryoblastic leukemia,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
318,Acute erythroid leukemia,Annual incidence,Class only,Unknown,0.0,Worldwide
318,Acute erythroid leukemia,Point prevalence,Class only,Unknown,0.0,Worldwide
514,Acute monoblastic/monocytic leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Europe
514,Acute monoblastic/monocytic leukemia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
517,Acute myelomonocytic leukemia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
517,Acute myelomonocytic leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Europe
505,Graham Little-Piccardi-Lassueur syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
346,Quinquaud folliculitis decalvans,Point prevalence,Class only,Unknown,0.0,Worldwide
222,Erosive pustular dermatosis of the scalp,Point prevalence,Class only,Unknown,0.0,Worldwide
170,Woolly hair,Point prevalence,Class only,Unknown,0.0,Worldwide
500548,Osteosclerotic metaphyseal dysplasia,Cases/families,Case(s),,7.0,Worldwide
500548,Osteosclerotic metaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
169,Ringed hair disease,Point prevalence,Class only,Unknown,0.0,Worldwide
500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,Cases/families,Case(s),,17.0,Worldwide
500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
168,Loose anagen syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,Cases/families,Case(s),,6.0,Worldwide
500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
345,Dissecting cellulitis of the scalp,Point prevalence,Class only,Unknown,0.0,Worldwide
591,Furuncular myiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
723,Pneumocystosis,Point prevalence,Class only,Unknown,0.0,Worldwide
472,Isosporiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
401,Hymenolepiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
400,Cystic echinococcosis,Annual incidence,Value and class,1-9 / 100 000,1.0,Europe
400,Cystic echinococcosis,Point prevalence,Class only,Unknown,0.0,Worldwide
500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Worldwide
520,Acute promyelocytic leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.28,United States
520,Acute promyelocytic leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Europe
520,Acute promyelocytic leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.3,France
520,Acute promyelocytic leukemia,Point prevalence,Class only,Unknown,0.0,Worldwide
450,Visceral heterotaxy,Prevalence at birth,Value and class,1-5 / 10 000,10.0,United States
450,Visceral heterotaxy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
529,Roch-Leri mesosomatous lipomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
224,Neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Europe
224,Neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Italy
224,Neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 100 000,1.12,Germany
224,Neonatal diabetes mellitus,Annual incidence,Value and class,1-9 / 1 000 000,0.62,Austria
224,Neonatal diabetes mellitus,Point prevalence,Class only,Unknown,0.0,Worldwide
826,Sporotrichosis,Point prevalence,Class only,Unknown,0.0,Worldwide
826,Sporotrichosis,Point prevalence,Value and class,>1 / 1000,2500.0,Mexico
826,Sporotrichosis,Annual incidence,Value and class,1-5 / 10 000,54.0,Peru
879,Tungiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
502363,Squamous cell carcinoma of the oral cavity,Annual incidence,Value and class,1-9 / 100 000,3.51,Europe
502366,Squamous cell carcinoma of the lip,Annual incidence,Value and class,1-9 / 100 000,1.02,Worldwide
502423,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,Cases/families,Case(s),,9.0,Worldwide
502423,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
502430,Weiss-Kruszka Syndrome,Cases/families,Case(s),,8.0,Worldwide
502430,Weiss-Kruszka Syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,Cases/families,Case(s),,17.0,Worldwide
502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
502437,4q25 proximal deletion syndrome,Cases/families,Case(s),,3.0,Worldwide
502437,4q25 proximal deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
502444,Alkaline ceramidase 3 deficiency,Cases/families,Case(s),,2.0,Worldwide
502444,Alkaline ceramidase 3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91,Aromatase deficiency,Cases/families,Case(s),,38.0,Worldwide
91,Aromatase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
785,Estrogen resistance syndrome,Cases/families,Case(s),,2.0,Worldwide
785,Estrogen resistance syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
873,Desmoid tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Europe
873,Desmoid tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.33,Finland
873,Desmoid tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
679,Malignant atrophic papulosis,Cases/families,Case(s),,200.0,Worldwide
679,Malignant atrophic papulosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
901,Wells syndrome,Cases/families,Case(s),,200.0,Worldwide
901,Wells syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
703,Bullous pemphigoid,Annual incidence,Value and class,1-9 / 100 000,2.17,France
703,Bullous pemphigoid,Annual incidence,Value and class,1-9 / 100 000,1.34,Germany
703,Bullous pemphigoid,Annual incidence,Value and class,1-9 / 100 000,4.3,United Kingdom
703,Bullous pemphigoid,Annual incidence,Value and class,1-9 / 100 000,1.21,Switzerland
703,Bullous pemphigoid,Point prevalence,Value and class,1-5 / 10 000,25.0,Europe
703,Bullous pemphigoid,Point prevalence,Value and class,1-5 / 10 000,25.93,Germany
841,Sebocystomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
817,Peeling skin syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
867,Familial multiple trichoepithelioma,Point prevalence,Class only,Unknown,0.0,Worldwide
735,Porokeratosis of Mibelli,Point prevalence,Class only,Unknown,0.0,Worldwide
497906,Childhood-onset basal ganglia degeneration syndrome,Cases/families,Case(s),,4.0,Worldwide
497906,Childhood-onset basal ganglia degeneration syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,Cases/families,Case(s),,73.0,Worldwide
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
737,Porokeratosis plantaris palmaris et disseminata,Point prevalence,Class only,Unknown,0.0,Worldwide
497623,C12ORF65-related combined oxidative phosphorylation defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
497623,C12ORF65-related combined oxidative phosphorylation defect,Cases/families,Case(s),,30.0,Worldwide
523,Hereditary leiomyomatosis and renal cell cancer,Cases/families,Case(s),,200.0,Worldwide
523,Hereditary leiomyomatosis and renal cell cancer,Point prevalence,Class only,Unknown,0.0,Worldwide
497737,Epidermolytic nevus,Prevalence at birth,Value and class,>1 / 1000,100.0,Worldwide
314,Erythroderma desquamativum,Point prevalence,Value and class,6-9 / 10 000,6.0,United States
314,Erythroderma desquamativum,Point prevalence,Class only,Unknown,0.0,Worldwide
497757,MME-related autosomal dominant Charcot Marie Tooth disease type 2,Cases/families,Case(s),,19.0,Worldwide
497757,MME-related autosomal dominant Charcot Marie Tooth disease type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
497764,Spinocerebellar ataxia type 43,Cases/families,Case(s),,7.0,Worldwide
497764,Spinocerebellar ataxia type 43,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
530,Lipoid proteinosis,Cases/families,Case(s),,500.0,Worldwide
530,Lipoid proteinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
493,Familial keratoacanthoma,Point prevalence,Class only,Unknown,0.0,Worldwide
497188,Diffuse intrinsic pontine glioma,Annual incidence,Value and class,<1 / 1 000 000,0.056,Netherlands
454,Acquired ichthyosis,Point prevalence,Class only,Unknown,0.0,Worldwide
617,Congenital primary megaureter,Point prevalence,Class only,Unknown,0.0,Worldwide
488,Urachal cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
105,Atresia of urethra,Prevalence at birth,Class only,Unknown,0.0,Worldwide
105,Atresia of urethra,Point prevalence,Class only,Unknown,0.0,Worldwide
237,Duplication of urethra,Cases/families,Case(s),,300.0,Worldwide
237,Duplication of urethra,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
721,Gray platelet syndrome,Cases/families,Case(s),,60.0,Worldwide
721,Gray platelet syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
722,Hypoplasminogenemia,Point prevalence,Value and class,1-9 / 1 000 000,0.16,Europe
749,Congenital prekallikrein deficiency,Cases/families,Case(s),,80.0,Worldwide
749,Congenital prekallikrein deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
853,Fetal and neonatal alloimmune thrombocytopenia,Point prevalence,Value and class,1-5 / 10 000,39.6307,Worldwide
853,Fetal and neonatal alloimmune thrombocytopenia,Prevalence at birth,Value and class,6-9 / 10 000,66.6667,Worldwide
498359,Aquagenic palmoplantar keratoderma,Point prevalence,Class only,Unknown,0.0,Worldwide
465,Congenital plasminogen activator inhibitor type 1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
310,Reflex epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
498251,Menstrual cycle-dependent periodic fever,Cases/families,Case(s),,5.0,Worldwide
498251,Menstrual cycle-dependent periodic fever,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
1332,Medullary thyroid carcinoma,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
1332,Medullary thyroid carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.17,United States
1332,Medullary thyroid carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Europe
877,Neuroendocrine neoplasm,Annual incidence,Value and class,1-9 / 100 000,3.2,Norway
877,Neuroendocrine neoplasm,Annual incidence,Value and class,1-9 / 100 000,5.25,United States
877,Neuroendocrine neoplasm,Annual incidence,Value and class,1-9 / 100 000,2.53,Europe
877,Neuroendocrine neoplasm,Point prevalence,Value and class,1-5 / 10 000,35.0,United States
877,Neuroendocrine neoplasm,Point prevalence,Class only,Unknown,0.0,Worldwide
73,Gorham-Stout disease,Cases/families,Case(s),,300.0,Worldwide
73,Gorham-Stout disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
498228,Phyllodes tumor of the prostate,Cases/families,Case(s),,90.0,Worldwide
728,Relapsing polychondritis,Annual incidence,Value and class,1-9 / 1 000 000,0.35,United States
728,Relapsing polychondritis,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Worldwide
728,Relapsing polychondritis,Point prevalence,Class only,Unknown,0.0,Worldwide
728,Relapsing polychondritis,Annual incidence,Value and class,<1 / 1 000 000,0.071,United Kingdom
728,Relapsing polychondritis,Point prevalence,Value and class,1-9 / 1 000 000,0.52,United Kingdom
467,Non-acquired combined pituitary hormone deficiency,Prevalence at birth,Value and class,1-5 / 10 000,29.0,Europe
467,Non-acquired combined pituitary hormone deficiency,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
142,Anaplastic thyroid carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Europe
142,Anaplastic thyroid carcinoma,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
143,Parathyroid carcinoma,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
143,Parathyroid carcinoma,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.28,Europe
143,Parathyroid carcinoma,Annual incidence,Class only,<1 / 1 000 000,0.0,United States
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.015,Austria
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.027,Belgium
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.013,Bulgaria
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.037,Croatia
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.015,Czech Republic
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Estonia
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.045,Finland
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.017,Germany
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.031,Ireland
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.052,Italy
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.011,Latvia
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Lithuania
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.031,Malta
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.016,Norway
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Poland
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Portugal
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Slovakia
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.006,Slovenia
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.045,Spain
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.011,Switzerland
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.015,Netherlands
143,Parathyroid carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.037,United Kingdom
786,Generalized glucocorticoid resistance syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
1461,Criss-cross heart,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Europe
1461,Criss-cross heart,Point prevalence,Class only,Unknown,0.0,Europe
875,Primary pediatric heart tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
615,Familial atrial myxoma,Cases/families,Family(ies),,17.0,Worldwide
615,Familial atrial myxoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
874,Primary adult heart tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
499009,Congenital syphilis,Point prevalence,Value and class,1-9 / 100 000,1.3,Europe
499009,Congenital syphilis,Point prevalence,Value and class,1-5 / 10 000,15.7,United States
499009,Congenital syphilis,Prevalence at birth,Value and class,1-5 / 10 000,15.7,United States
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Europe
499009,Congenital syphilis,Prevalence at birth,Value and class,1-5 / 10 000,26.6,Bulgaria
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,1.3,Czech Republic
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,1.04,Denmark
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Greece
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Hungary
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Italy
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,4.6,Lithuania
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Poland
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,5.4,Portugal
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Romania
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Sweden
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Germany
499009,Congenital syphilis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Spain
1330,Partial atrioventricular septal defect,Prevalence at birth,Value and class,1-5 / 10 000,20.0,Europe
1330,Partial atrioventricular septal defect,Point prevalence,Value and class,1-5 / 10 000,30.0,Europe
1677,Familial idiopathic dilatation of the right atrium,Point prevalence,Class only,Unknown,0.0,Worldwide
498497,Short rib-polydactyly syndrome type 5,Cases/families,Case(s),,2.0,Worldwide
498497,Short rib-polydactyly syndrome type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
720,Pili bifurcati,Point prevalence,Class only,Unknown,0.0,Worldwide
671,Primary cutis verticis gyrata,Point prevalence,Class only,Unknown,0.0,Worldwide
864,Trichofolliculoma,Point prevalence,Class only,Unknown,0.0,Worldwide
498602,Sugarman brachydactyly,Cases/families,Family(ies),,1.0,Worldwide
498602,Sugarman brachydactyly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
247,Inherited arrhythmogenic cardiomyopathy,Point prevalence,Value and class,1-5 / 10 000,43.5,Italy
247,Inherited arrhythmogenic cardiomyopathy,Point prevalence,Value and class,1-5 / 10 000,20.0,Worldwide
498693,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,Cases/families,Case(s),,4.0,Worldwide
498693,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
444,Marie Unna hereditary hypotrichosis,Point prevalence,Class only,Unknown,0.0,Worldwide
2221,Acquired hypertrichosis lanuginosa,Cases/families,Case(s),,60.0,Worldwide
2221,Acquired hypertrichosis lanuginosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
498474,Hyaline fibromatosis syndrome,Cases/families,Case(s),,150.0,Worldwide
498474,Hyaline fibromatosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
498481,LRP5-related primary osteoporosis,Cases/families,Case(s),,3.0,Worldwide
498481,LRP5-related primary osteoporosis,Point prevalence,Class only,Unknown,0.0,Worldwide
499,Kerion celsi,Point prevalence,Class only,Unknown,0.0,Worldwide
498485,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,Cases/families,Case(s),,4.0,Worldwide
498485,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
573,Monilethrix,Point prevalence,Class only,Unknown,0.0,Worldwide
498488,Overgrowth syndrome with 2q37 translocation,Cases/families,Case(s),,4.0,Worldwide
498488,Overgrowth syndrome with 2q37 translocation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
525,Lichen planopilaris,Cases/families,Case(s),,300.0,Worldwide
525,Lichen planopilaris,Point prevalence,Class only,Unknown,0.0,Worldwide
700,Alopecia totalis,Point prevalence,Value and class,1-5 / 10 000,10.5,Europe
840,Syringocystadenoma papilliferum,Cases/families,Case(s),,730.0,Worldwide
840,Syringocystadenoma papilliferum,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
384,Huriez syndrome,Cases/families,Case(s),,16.0,Worldwide
384,Huriez syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
315,Erythrokeratoderma ''en cocardes'',Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
409,Hyperkeratosis lenticularis perstans,Point prevalence,Class only,Unknown,0.0,Worldwide
41,Dyschromatosis symmetrica hereditaria,Cases/families,Case(s),,300.0,Worldwide
41,Dyschromatosis symmetrica hereditaria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
41,Dyschromatosis symmetrica hereditaria,Point prevalence,Value and class,1-9 / 100 000,1.5,Japan
122,Birt-Hogg-Dubé syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
38,Acrokeratoelastoidosis of Costa,Point prevalence,Class only,Unknown,0.0,Worldwide
39,Acromelanosis,Cases/families,Case(s),,10.0,Worldwide
39,Acromelanosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
316,Progressive symmetric erythrokeratodermia,Point prevalence,Class only,Unknown,0.0,Worldwide
658,Non-histaminic angioedema,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
3282,Multifocal atrial tachycardia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.67,Worldwide
3282,Multifocal atrial tachycardia,Point prevalence,Class only,Unknown,0.0,Worldwide
188,Systemic capillary leak syndrome,Cases/families,Case(s),,150.0,Worldwide
188,Systemic capillary leak syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
303,Dystrophic epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.572,Europe
303,Dystrophic epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Spain
303,Dystrophic epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.39,Australia
303,Dystrophic epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.14,United States
303,Dystrophic epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.28,Romania
303,Dystrophic epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.83,Netherlands
303,Dystrophic epidermolysis bullosa,Annual incidence,Value and class,1-9 / 100 000,1.41,Netherlands
305,Junctional epidermolysis bullosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
305,Junctional epidermolysis bullosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,<1 / 1 000 000,0.08,Sweden
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,<1 / 1 000 000,0.07,Ireland
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,<1 / 1 000 000,0.02,Finland
305,Junctional epidermolysis bullosa,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Italy
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,<1 / 1 000 000,0.07,Australia
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,<1 / 1 000 000,0.02,Japan
305,Junctional epidermolysis bullosa,Prevalence at birth,Value and class,1-9 / 1 000 000,0.22,United States
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,<1 / 1 000 000,0.04,United States
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,<1 / 1 000 000,0.07,South Africa
305,Junctional epidermolysis bullosa,Annual incidence,Value and class,1-9 / 1 000 000,0.93,Netherlands
305,Junctional epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.21,Netherlands
3406,Ulerythema ophryogenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
2908,Kindler epidermolysis bullosa,Cases/families,Case(s),,250.0,Worldwide
2908,Kindler epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Worldwide
81,Antisynthetase syndrome,Point prevalence,Value and class,1-9 / 100 000,3.5,Worldwide
563,Peripartum cardiomyopathy,Prevalence at birth,Value and class,1-5 / 10 000,30.0,Worldwide
563,Peripartum cardiomyopathy,Prevalence at birth,Value and class,1-5 / 10 000,36.0,United States
563,Peripartum cardiomyopathy,Prevalence at birth,Value and class,6-9 / 10 000,89.0,Singapore
563,Peripartum cardiomyopathy,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Japan
563,Peripartum cardiomyopathy,Prevalence at birth,Value and class,>1 / 1000,334.0,Haiti
563,Peripartum cardiomyopathy,Prevalence at birth,Value and class,>1 / 1000,100.0,South Africa
563,Peripartum cardiomyopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
764,Pyomyositis,Point prevalence,Class only,Unknown,0.0,Worldwide
779,Reynolds syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
838,Susac syndrome,Cases/families,Case(s),,304.0,Worldwide
838,Susac syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
889,Cutaneous small vessel vasculitis,Point prevalence,Value and class,1-9 / 100 000,2.7,Norway
889,Cutaneous small vessel vasculitis,Point prevalence,Class only,Unknown,0.0,Worldwide
482,Kimura disease,Cases/families,Case(s),,300.0,Worldwide
482,Kimura disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,Cases/families,Case(s),,7.0,Worldwide
486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,Cases/families,Case(s),,4.0,Worldwide
486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
485418,EMILIN-1-related connective tissue disease,Cases/families,Case(s),,3.0,Worldwide
485418,EMILIN-1-related connective tissue disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,Cases/families,Case(s),,4.0,Worldwide
485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
485405,16p12.1p12.3 triplication syndrome,Cases/families,Case(s),,3.0,Worldwide
485405,16p12.1p12.3 triplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
485350,CLCN4-related X-linked intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
485350,CLCN4-related X-linked intellectual disability syndrome,Cases/families,Case(s),,38.0,Worldwide
485358,Propylthiouracil embryofetopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
482606,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,Cases/families,Case(s),,15.0,Worldwide
482606,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
482601,Adenylosuccinate synthetase-like 1-related distal myopathy,Cases/families,Case(s),,19.0,Worldwide
482601,Adenylosuccinate synthetase-like 1-related distal myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31828,Digitalis poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,Cases/families,Case(s),,24.0,Worldwide
480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31837,Pulmonary venoocclusive disease,Annual incidence,Value and class,<1 / 1 000 000,0.015,France
31837,Pulmonary venoocclusive disease,Annual incidence,Value and class,<1 / 1 000 000,0.015,Europe
31837,Pulmonary venoocclusive disease,Point prevalence,Class only,Unknown,0.0,Europe
480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,Cases/families,Case(s),,14.0,Worldwide
480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,Cases/families,Case(s),,6.0,Worldwide
480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,Cases/families,Case(s),,17.0,Worldwide
480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31740,Hypersensitivity pneumonitis,Point prevalence,Class only,Unknown,0.0,Worldwide
480556,Isolated neonatal sclerosing cholangitis,Cases/families,Case(s),,4.0,Worldwide
480556,Isolated neonatal sclerosing cholangitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31826,Ethylene glycol poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
480851,Hereditary thrombocytopenia with early-onset myelofibrosis,Cases/families,Case(s),,9.0,Worldwide
480851,Hereditary thrombocytopenia with early-onset myelofibrosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31827,Paraquat poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
31824,Colchicine poisoning,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
480682,POGLUT1-related limb-girdle muscular dystrophy R21,Cases/families,Case(s),,4.0,Worldwide
480682,POGLUT1-related limb-girdle muscular dystrophy R21,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31825,Methanol poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
481665,Pseudo-TORCH syndrome type 2,Cases/families,Case(s),,5.0,Worldwide
481665,Pseudo-TORCH syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
482077,HTRA1-related autosomal dominant cerebral small vessel disease,Cases/families,Case(s),,21.0,Worldwide
482077,HTRA1-related autosomal dominant cerebral small vessel disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
481152,PYCR2-related microcephaly-progressive leukoencephalopathy,Cases/families,Case(s),,18.0,Worldwide
481152,PYCR2-related microcephaly-progressive leukoencephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
481662,Familial Chilblain lupus,Cases/families,Family(ies),,10.0,Worldwide
481662,Familial Chilblain lupus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480476,Progressive familial intrahepatic cholestasis type 5,Cases/families,Case(s),,4.0,Worldwide
480476,Progressive familial intrahepatic cholestasis type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480491,MYO5B-related progressive familial intrahepatic cholestasis,Cases/families,Case(s),,5.0,Worldwide
480491,MYO5B-related progressive familial intrahepatic cholestasis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480483,Progressive familial intrahepatic cholestasis type 4,Cases/families,Case(s),,14.0,Worldwide
480483,Progressive familial intrahepatic cholestasis type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480528,Lethal hydranencephaly-diaphragmatic hernia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480528,Lethal hydranencephaly-diaphragmatic hernia syndrome,Cases/families,Case(s),,2.0,Worldwide
480524,Idiopathic peliosis hepatis,Point prevalence,Class only,Unknown,0.0,Worldwide
480536,MSH3-related polyposis,Cases/families,Case(s),,4.0,Worldwide
480536,MSH3-related polyposis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
480531,Congenital portosystemic shunt,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Worldwide
480501,Choledochal cyst,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
480520,Caroli syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
480512,Idiopathic ductopenia,Cases/families,Case(s),,100.0,Worldwide
480512,Idiopathic ductopenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477814,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,Cases/families,Case(s),,9.0,Worldwide
477814,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477781,Primary condylar hyperplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
477787,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,Cases/families,Case(s),,2.0,Worldwide
477787,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
478029,Combined oxidative phosphorylation defect type 29,Cases/families,Case(s),,1.0,Worldwide
478029,Combined oxidative phosphorylation defect type 29,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
478042,Combined oxidative phosphorylation defect type 30,Cases/families,Case(s),,2.0,Worldwide
478042,Combined oxidative phosphorylation defect type 30,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,Cases/families,Case(s),,3.0,Worldwide
477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477857,Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Cases/families,Case(s),,7.0,Worldwide
477857,Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477817,PMP22-RAI1 contiguous gene duplication syndrome,Cases/families,Case(s),,23.0,Worldwide
477817,PMP22-RAI1 contiguous gene duplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477831,Kosaki overgrowth syndrome,Cases/families,Case(s),,2.0,Worldwide
477831,Kosaki overgrowth syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,Cases/families,Case(s),,4.0,Worldwide
478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
478664,Hereditary sensory and autonomic neuropathy type 8,Cases/families,Family(ies),,11.0,Worldwide
478664,Hereditary sensory and autonomic neuropathy type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477650,Fibroblastic rheumatism,Cases/families,Case(s),,30.0,Worldwide
477650,Fibroblastic rheumatism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477661,IL21-related infantile inflammatory bowel disease,Cases/families,Case(s),,3.0,Worldwide
477661,IL21-related infantile inflammatory bowel disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477684,Combined oxidative phosphorylation defect type 26,Cases/families,Case(s),,2.0,Worldwide
477684,Combined oxidative phosphorylation defect type 26,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,Cases/families,Case(s),,17.0,Worldwide
477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477749,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Cases/families,Case(s),,11.0,Worldwide
477749,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
477742,Nodular fasciitis,Point prevalence,Class only,Unknown,0.0,Worldwide
477774,Combined oxidative phosphorylation defect type 27,Cases/families,Case(s),,3.0,Worldwide
477774,Combined oxidative phosphorylation defect type 27,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
476119,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,Cases/families,Family(ies),,1.0,Worldwide
476119,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
476113,Combined immunodeficiency due to TFRC deficiency,Cases/families,Family(ies),,2.0,Worldwide
476113,Combined immunodeficiency due to TFRC deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
476126,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,Cases/families,Case(s),,4.0,Worldwide
476126,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
476406,Congenital generalized hypercontractile muscle stiffness syndrome,Cases/families,Case(s),,2.0,Worldwide
476406,Congenital generalized hypercontractile muscle stiffness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
476394,PMP2-related Charcot-Marie-Tooth disease type 1,Cases/families,Case(s),,13.0,Worldwide
476394,PMP2-related Charcot-Marie-Tooth disease type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
493342,Vibratory urticaria,Cases/families,Case(s),,37.0,Worldwide
493342,Vibratory urticaria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488642,TELO2-related intellectual disability-neurodevelopmental disorder,Cases/families,Case(s),,6.0,Worldwide
488642,TELO2-related intellectual disability-neurodevelopmental disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488647,DDX41-related hematologic malignancy predisposition syndrome,Cases/families,Family(ies),,3.0,Worldwide
488647,DDX41-related hematologic malignancy predisposition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488650,"Distal myopathy, Tateyama type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488650,"Distal myopathy, Tateyama type",Cases/families,Case(s),,7.0,Worldwide
488618,Transketolase deficiency,Cases/families,Case(s),,5.0,Worldwide
488618,Transketolase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,Cases/families,Case(s),,3.0,Worldwide
488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488632,TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome,Cases/families,Case(s),,25.0,Worldwide
488632,TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488635,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Cases/families,Case(s),,5.0,Worldwide
488635,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488239,Acute macular neuroretinopathy,Cases/families,Case(s),,101.0,Worldwide
488239,Acute macular neuroretinopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488232,Split-foot malformation-mesoaxial polydactyly syndrome,Cases/families,Case(s),,5.0,Worldwide
488232,Split-foot malformation-mesoaxial polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,Cases/families,Case(s),,24.0,Worldwide
488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488280,14q32 duplication syndrome,Cases/families,Case(s),,33.0,Worldwide
488280,14q32 duplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488437,SIX2-related frontonasal dysplasia,Cases/families,Family(ies),,1.0,Worldwide
488437,SIX2-related frontonasal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488434,"Camptodactyly syndrome, Guadalajara type 3",Cases/families,Case(s),,5.0,Worldwide
488434,"Camptodactyly syndrome, Guadalajara type 3",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488613,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,Cases/families,Case(s),,26.0,Worldwide
488613,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488594,Autosomal recessive spastic paraplegia type 76,Cases/families,Family(ies),,7.0,Worldwide
488594,Autosomal recessive spastic paraplegia type 76,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,Cases/families,Case(s),,9.0,Worldwide
488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488168,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,Cases/families,Case(s),,5.0,Worldwide
488168,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
488191,Female infertility due to oocyte meiotic arrest,Cases/families,Case(s),,16.0,Worldwide
488191,Female infertility due to oocyte meiotic arrest,Point prevalence,Class only,Unknown,0.0,Worldwide
487796,Takenouchi-Kosaki syndrome,Cases/families,Case(s),,2.0,Worldwide
487796,Takenouchi-Kosaki syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
487814,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,Cases/families,Case(s),,2.0,Worldwide
487814,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
487809,Pediatric collagenous gastritis,Cases/families,Case(s),,24.0,Worldwide
487809,Pediatric collagenous gastritis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
487825,Pierpont syndrome,Cases/families,Case(s),,7.0,Worldwide
487825,Pierpont syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31205,Rat-bite fever,Point prevalence,Class only,Unknown,0.0,Worldwide
31204,Nocardiosis,Point prevalence,Class only,Unknown,0.0,Worldwide
31204,Nocardiosis,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Canada
31202,Melioidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
31202,Melioidosis,Annual incidence,Value and class,1-5 / 10 000,50.0,Australia
31202,Melioidosis,Annual incidence,Value and class,1-5 / 10 000,50.0,Thailand
31150,Tangier disease,Cases/families,Case(s),,185.0,Worldwide
31150,Tangier disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
31043,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,Cases/families,Case(s),,110.0,Worldwide
31043,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
31112,Dermatofibrosarcoma protuberans,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
30924,Primary hypomagnesemia with secondary hypocalcemia,Cases/families,Case(s),,100.0,Worldwide
30924,Primary hypomagnesemia with secondary hypocalcemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
30925,Hereditary arginine vasopressin deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
476084,BVES-related limb-girdle muscular dystrophy,Cases/families,Case(s),,3.0,Worldwide
476084,BVES-related limb-girdle muscular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
476096,Erythrokeratodermia-cardiomyopathy syndrome,Cases/families,Case(s),,3.0,Worldwide
476096,Erythrokeratodermia-cardiomyopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
476093,HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,Cases/families,Case(s),,8.0,Worldwide
476093,HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71278,Congenital brain dysgenesis due to glutamine synthetase deficiency,Cases/families,Case(s),,3.0,Worldwide
71278,Congenital brain dysgenesis due to glutamine synthetase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71279,CANOMAD syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71279,CANOMAD syndrome,Cases/families,Case(s),,100.0,Worldwide
71271,Split hand-split foot-deafness syndrome,Cases/families,Case(s),,22.0,Worldwide
71271,Split hand-split foot-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71272,Sandifer syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
71273,Renal nutcracker syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
71274,Disseminated peritoneal leiomyomatosis,Cases/families,Case(s),,150.0,Worldwide
71274,Disseminated peritoneal leiomyomatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71275,Rh deficiency syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
71276,Silent sinus syndrome,Cases/families,Case(s),,558.0,Worldwide
71276,Silent sinus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
71277,Classic glucose transporter type 1 deficiency syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.26,Norway
71277,Classic glucose transporter type 1 deficiency syndrome,Point prevalence,Value and class,1-9 / 100 000,1.11,Australia
71277,Classic glucose transporter type 1 deficiency syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.538,Worldwide
71277,Classic glucose transporter type 1 deficiency syndrome,Point prevalence,Value and class,1-9 / 100 000,1.2,Denmark
71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,Cases/families,Case(s),,10.0,Worldwide
71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,1-9 / 1 000 000,0.73,Martinique
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.054,Austria
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,1-9 / 1 000 000,0.1877,Worldwide
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,2.071,Worldwide
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 1 000 000,0.7,Austria
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.08,United Kingdom
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,1.43,United Kingdom
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.09,Netherlands
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.063,Spain
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 1 000 000,0.89,Spain
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.07,Denmark
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,1.09,Denmark
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.079,Sweden
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,1.04,Sweden
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,1-9 / 1 000 000,0.132,Hungary
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,1.91,Hungary
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.037,Australia
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 1 000 000,0.7,Australia
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.07,United States
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,3.9,United States
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,1-9 / 1 000 000,0.495,India
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,1-9 / 1 000 000,0.495,Canada
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,2.6,India
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,3.42,Japan
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,1-9 / 1 000 000,0.39,Malaysia
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,1.94,Malaysia
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 100 000,1.51,"Iran, Islamic Republic of"
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,<1 / 1 000 000,0.053,Cuba
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-9 / 1 000 000,0.52,Cuba
71211,Neuromyelitis optica spectrum disorder,Point prevalence,Value and class,1-5 / 10 000,10.0,Martinique
71211,Neuromyelitis optica spectrum disorder,Annual incidence,Value and class,1-9 / 1 000 000,0.285,Costa rica
71267,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,Cases/families,Case(s),,2.0,Worldwide
71267,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71213,Retinal capillary malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
71198,Rare pulmonary hypertension,Point prevalence,Class only,Unknown,0.0,Worldwide
558411,Idiopathic gastroparesis,Point prevalence,Value and class,1-5 / 10 000,11.4,Specific population
70591,Chronic thromboembolic pulmonary hypertension,Point prevalence,Class only,Unknown,0.0,Worldwide
70591,Chronic thromboembolic pulmonary hypertension,Annual incidence,Value and class,1-9 / 100 000,4.2,Europe
70591,Chronic thromboembolic pulmonary hypertension,Annual incidence,Value and class,1-9 / 100 000,5.1,United States
70591,Chronic thromboembolic pulmonary hypertension,Annual incidence,Value and class,1-9 / 100 000,1.9,Japan
70592,Transient predisposition to invasive pyogenic bacterial infection,Cases/families,Case(s),,49.0,Worldwide
70592,Transient predisposition to invasive pyogenic bacterial infection,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
70589,Bronchopulmonary dysplasia,Point prevalence,Value and class,1-5 / 10 000,13.0,Europe
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
70596,Congenital Epstein-Barr virus infection,Point prevalence,Class only,Unknown,0.0,Worldwide
70593,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,Cases/families,Case(s),,43.0,Worldwide
70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
70578,Adult acute respiratory distress syndrome,Annual incidence,Value and class,6-9 / 10 000,64.0,United States
70578,Adult acute respiratory distress syndrome,Point prevalence,Value and class,1-5 / 10 000,51.0,United States
70578,Adult acute respiratory distress syndrome,Annual incidence,Value and class,1-5 / 10 000,11.5,Iceland
70578,Adult acute respiratory distress syndrome,Annual incidence,Value and class,1-9 / 100 000,7.2,Spain
70578,Adult acute respiratory distress syndrome,Annual incidence,Value and class,1-9 / 100 000,4.9,Finland
70578,Adult acute respiratory distress syndrome,Annual incidence,Value and class,1-5 / 10 000,13.5,Sweden
70578,Adult acute respiratory distress syndrome,Annual incidence,Value and class,1-5 / 10 000,13.5,Denmark
70578,Adult acute respiratory distress syndrome,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
70573,Small cell lung cancer,Point prevalence,Value and class,1-5 / 10 000,12.0,Europe
70568,Post-transplant lymphoproliferative disease,Point prevalence,Value and class,1-5 / 10 000,26.2,Europe
70588,Meconium aspiration syndrome,Point prevalence,Value and class,1-9 / 100 000,2.44,Europe
70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",Point prevalence,Class only,Unknown,0.0,Worldwide
70567,Cholangiocarcinoma,Annual incidence,Value and class,1-9 / 100 000,4.2,Worldwide
70567,Cholangiocarcinoma,Point prevalence,Value and class,1-9 / 100 000,2.1,Worldwide
70567,Cholangiocarcinoma,Annual incidence,Value and class,1-9 / 100 000,1.0,United States
70567,Cholangiocarcinoma,Annual incidence,Value and class,>1 / 1000,113.0,Thailand
70567,Cholangiocarcinoma,Annual incidence,Value and class,1-9 / 100 000,5.5,Japan
70567,Cholangiocarcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Australia
70567,Cholangiocarcinoma,Annual incidence,Value and class,1-9 / 100 000,4.0,Europe
70567,Cholangiocarcinoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,7.0,Worldwide
70482,Carcinoma of esophagus,Point prevalence,Value and class,1-9 / 100 000,7.1,Europe
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,6.67,Europe
70482,Carcinoma of esophagus,Lifetime Prevalence,Value and class,1-5 / 10 000,12.2,Europe
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,5.5,United States
70482,Carcinoma of esophagus,Point prevalence,Value and class,1-9 / 100 000,9.8,Worldwide
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,6.873,France
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-5 / 10 000,10.82,United Kingdom
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.9,India
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-5 / 10 000,20.0,China
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,2.3,Africa
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,9.0,Japan
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.9,Canada
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,8.0,Russian Federation
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-5 / 10 000,13.0,Latin America
70482,Carcinoma of esophagus,Point prevalence,Value and class,1-9 / 1 000 000,0.34,"Iran, Islamic Republic of"
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.293,Austria
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,7.892,Belgium
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,1.194,Bulgaria
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.281,Croatia
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.718,Czech Republic
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.473,Estonia
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.83,Finland
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,5.854,Germany
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,4.772,Iceland
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,7.2,Ireland
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.612,Italy
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.372,Latvia
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.468,Lithuania
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,2.575,Malta
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.592,Norway
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,2.414,Poland
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,4.592,Portugal
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,4.54,Slovakia
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,3.904,Slovenia
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,4.777,Spain
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,6.413,Switzerland
70482,Carcinoma of esophagus,Annual incidence,Value and class,1-9 / 100 000,8.362,Netherlands
70476,Vernal keratoconjunctivitis,Point prevalence,Value and class,>1 / 1000,151.0,Italy
70476,Vernal keratoconjunctivitis,Point prevalence,Value and class,1-5 / 10 000,45.5,Finland
70476,Vernal keratoconjunctivitis,Point prevalence,Value and class,1-5 / 10 000,49.5,Sweden
70476,Vernal keratoconjunctivitis,Point prevalence,Value and class,1-5 / 10 000,26.0,Netherlands
70476,Vernal keratoconjunctivitis,Point prevalence,Value and class,1-5 / 10 000,20.0,France
70476,Vernal keratoconjunctivitis,Point prevalence,Value and class,1-5 / 10 000,11.0,Norway
70476,Vernal keratoconjunctivitis,Point prevalence,Value and class,1-5 / 10 000,32.0,Europe
70475,Radiation proctitis,Point prevalence,Value and class,1-5 / 10 000,35.0,Europe
69744,Circumscribed palmoplantar hypokeratosis,Cases/families,Case(s),,17.0,Worldwide
69744,Circumscribed palmoplantar hypokeratosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69745,Warty dyskeratoma,Point prevalence,Class only,Unknown,0.0,Worldwide
69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,Cases/families,Case(s),,4.0,Worldwide
69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69736,Bilateral acute depigmentation of the iris,Cases/families,Case(s),,62.0,Worldwide
69736,Bilateral acute depigmentation of the iris,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69737,Bosley-Salih-Alorainy syndrome,Cases/families,Case(s),,16.0,Worldwide
69737,Bosley-Salih-Alorainy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69739,Athabaskan brainstem dysgenesis syndrome,Cases/families,Case(s),,13.0,Worldwide
69739,Athabaskan brainstem dysgenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69663,Low phospholipid-associated cholelithiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
69665,Intrahepatic cholestasis of pregnancy,Point prevalence,Class only,Unknown,0.0,Europe
69723,Tyrosinemia type 3,Cases/families,Case(s),,20.0,Worldwide
69723,Tyrosinemia type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69126,PAPA syndrome,Cases/families,Case(s),,53.0,Worldwide
69126,PAPA syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69087,Naegeli-Franceschetti-Jadassohn syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.035,Europe
69125,Anonychia with flexural pigmentation,Cases/families,Case(s),,3.0,Worldwide
69125,Anonychia with flexural pigmentation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69088,Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,Cases/families,Case(s),,2.0,Worldwide
69088,Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69083,"Ectodermal dysplasia with natal teeth, Turnpenny type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69083,"Ectodermal dysplasia with natal teeth, Turnpenny type",Cases/families,Family(ies),,1.0,Worldwide
69082,Odonto-tricho-ungual-digito-palmar syndrome,Cases/families,Case(s),,21.0,Worldwide
69082,Odonto-tricho-ungual-digito-palmar syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69085,Limb-mammary syndrome,Cases/families,Case(s),,38.0,Worldwide
69085,Limb-mammary syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69084,Pure hair and nail ectodermal dysplasia,Cases/families,Case(s),,20.0,Worldwide
69084,Pure hair and nail ectodermal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
69077,Rhabdoid tumor,Cases/families,Case(s),,500.0,Worldwide
69077,Rhabdoid tumor,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
69077,Rhabdoid tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
69076,Familial renal glucosuria,Point prevalence,Class only,Unknown,0.0,Worldwide
69078,Liposarcoma,Annual incidence,Value and class,1-9 / 100 000,1.0,Europe
69078,Liposarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.59,United States
69078,Liposarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
69061,Idiopathic steroid-sensitive nephrotic syndrome,Point prevalence,Class only,Unknown,0.0,Europe
69063,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,Cases/families,Case(s),,15.0,Worldwide
69063,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
67048,3-methylglutaconic aciduria type 4,Point prevalence,Class only,Unknown,0.0,Worldwide
69028,Dysostosis with brachydactyly,Point prevalence,Class only,Unknown,0.0,Worldwide
67046,3-methylglutaconic aciduria type 1,Cases/families,Case(s),,20.0,Worldwide
67046,3-methylglutaconic aciduria type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
67047,3-methylglutaconic aciduria type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
67044,Thrombocytopenia with congenital dyserythropoietic anemia,Cases/families,Family(ies),,3.0,Worldwide
67044,Thrombocytopenia with congenital dyserythropoietic anemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
67045,X-linked intellectual disability with isolated growth hormone deficiency,Cases/families,Family(ies),,2.0,Worldwide
67045,X-linked intellectual disability with isolated growth hormone deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
67042,Late-onset retinal degeneration,Point prevalence,Class only,Unknown,0.0,Worldwide
67043,Amoebic keratitis,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
67039,Segmental odontomaxillary dysplasia,Cases/families,Case(s),,32.0,Worldwide
67039,Segmental odontomaxillary dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
67041,Hyaluronidase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
67038,B-cell chronic lymphocytic leukemia,Point prevalence,Value and class,1-5 / 10 000,48.0,Europe
67038,B-cell chronic lymphocytic leukemia,Annual incidence,Value and class,1-9 / 100 000,7.05,France
66662,Extracutaneous mastocytoma,Cases/families,Case(s),,7.0,Worldwide
66662,Extracutaneous mastocytoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
67036,Autosomal dominant optic atrophy and cataract,Cases/families,Family(ies),,3.0,Worldwide
67036,Autosomal dominant optic atrophy and cataract,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
66661,Mast cell sarcoma,Point prevalence,Value and class,<1 / 1 000 000,0.015,Europe
66646,Cutaneous mastocytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
66637,Diaphanospondylodysostosis,Cases/families,Case(s),,18.0,Worldwide
66637,Diaphanospondylodysostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
66634,Dilated cardiomyopathy with ataxia,Point prevalence,Class only,Unknown,0.0,Worldwide
66633,Sensorineural hearing loss-early graying-essential tremor syndrome,Cases/families,Case(s),,3.0,Worldwide
66633,Sensorineural hearing loss-early graying-essential tremor syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
66631,CEDNIK syndrome,Cases/families,Case(s),,13.0,Worldwide
66631,CEDNIK syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
66630,Congenital pseudoarthrosis of the clavicle,Cases/families,Case(s),,200.0,Worldwide
66630,Congenital pseudoarthrosis of the clavicle,Point prevalence,Value and class,1-9 / 100 000,5.7,Worldwide
66629,Goldberg-Shprintzen megacolon syndrome,Cases/families,Case(s),,24.0,Worldwide
66629,Goldberg-Shprintzen megacolon syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
66628,Obesity due to congenital leptin deficiency,Cases/families,Case(s),,30.0,Worldwide
66628,Obesity due to congenital leptin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
66627,Tenosynovial giant cell tumor,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
66625,Cerebrooculonasal syndrome,Cases/families,Case(s),,21.0,Worldwide
66625,Cerebrooculonasal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
66624,PANDAS,Point prevalence,Class only,Unknown,0.0,Worldwide
66529,Tako-Tsubo cardiomyopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
66529,Tako-Tsubo cardiomyopathy,Annual incidence,Value and class,1-9 / 100 000,2.98,France
66518,Short fifth metacarpals-insulin resistance syndrome,Cases/families,Case(s),,6.0,Worldwide
66518,Short fifth metacarpals-insulin resistance syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65283,Timothy syndrome,Cases/families,Case(s),,56.0,Worldwide
65283,Timothy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65282,Carvajal syndrome,Cases/families,Case(s),,7.0,Worldwide
65282,Carvajal syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
562639,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
65285,Lhermitte-Duclos disease,Cases/families,Case(s),,220.0,Worldwide
65285,Lhermitte-Duclos disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65284,Biotin-thiamine-responsive basal ganglia disease,Cases/families,Case(s),,48.0,Worldwide
65284,Biotin-thiamine-responsive basal ganglia disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65287,Beta-ureidopropionase deficiency,Cases/families,Case(s),,5.0,Worldwide
65287,Beta-ureidopropionase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65286,3q29 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
65681,Vaginal atresia,Point prevalence,Class only,Unknown,0.0,Worldwide
65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,Cases/families,Case(s),,4.0,Worldwide
65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65683,Isolated focal cortical dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
65682,Benign recurrent intrahepatic cholestasis,Point prevalence,Class only,Unknown,0.0,Worldwide
65720,Arthrogryposis-severe scoliosis syndrome,Cases/families,Family(ies),,2.0,Worldwide
65720,Arthrogryposis-severe scoliosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65684,Monomelic amyotrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
65748,Multiple self-healing squamous epithelioma,Point prevalence,Class only,Unknown,0.0,Worldwide
65748,Multiple self-healing squamous epithelioma,Cases/families,Case(s),,100.0,Worldwide
65743,Autosomal dominant multiple pterygium syndrome,Cases/families,Case(s),,4.0,Worldwide
65743,Autosomal dominant multiple pterygium syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65759,Carpenter syndrome,Cases/families,Case(s),,70.0,Worldwide
65759,Carpenter syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
65753,Charcot-Marie-Tooth disease type 1,Point prevalence,Value and class,1-5 / 10 000,17.5,Worldwide
64744,IgG4-related thyroid disease,Annual incidence,Value and class,1-9 / 100 000,1.06,United States
64744,IgG4-related thyroid disease,Point prevalence,Class only,Unknown,0.0,Worldwide
64745,Pruritic urticarial papules and plaques of pregnancy,Point prevalence,Class only,Unknown,0.0,Worldwide
64746,Autosomal dominant Charcot-Marie-Tooth disease type 2,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
64747,X-linked Charcot-Marie-Tooth disease,Point prevalence,Value and class,1-9 / 100 000,1.6,Europe
64748,Dejerine-Sottas syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
64749,Charcot-Marie-Tooth disease type 4,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
64751,Hereditary motor and sensory neuropathy type 5,Cases/families,Case(s),,25.0,Worldwide
64751,Hereditary motor and sensory neuropathy type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
562509,Heme oxygenase-1 deficiency,Cases/families,Case(s),,3.0,Worldwide
562509,Heme oxygenase-1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
64752,Hereditary sensory and autonomic neuropathy type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
64752,Hereditary sensory and autonomic neuropathy type 5,Point prevalence,Value and class,<1 / 1 000 000,0.035,Japan
64753,Spinocerebellar ataxia with axonal neuropathy type 2,Point prevalence,Value and class,1-9 / 1 000 000,0.11,France
64754,Nevus comedonicus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
562528,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,Cases/families,Case(s),,14.0,Worldwide
562528,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
64755,Becker nevus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
562559,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,Cases/families,Case(s),,7.0,Worldwide
562559,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
562569,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,Cases/families,Case(s),,10.0,Worldwide
562569,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
64686,Tolosa-Hunt syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Worldwide
64686,Tolosa-Hunt syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
64542,"Acrofacial dysostosis, Kennedy-Teebi type",Cases/families,Case(s),,2.0,Worldwide
64542,"Acrofacial dysostosis, Kennedy-Teebi type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
64280,Childhood absence epilepsy,Annual incidence,Value and class,1-9 / 100 000,5.0,United States
64280,Childhood absence epilepsy,Point prevalence,Class only,Unknown,0.0,Europe
64722,Granulomatous mastitis,Point prevalence,Value and class,1-9 / 100 000,2.4,Worldwide
64720,Leiomyosarcoma,Annual incidence,Class only,Unknown,0.0,Worldwide
64720,Leiomyosarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
64694,Trench fever,Point prevalence,Class only,Unknown,0.0,Worldwide
64739,Ovarian hyperstimulation syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
64734,Iridocorneal endothelial syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
64743,Hepatoportal sclerosis,Point prevalence,Class only,Unknown,0.0,Worldwide
64742,Pleuropulmonary blastoma,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
64742,Pleuropulmonary blastoma,Point prevalence,Class only,Unknown,0.0,Worldwide
64741,Pulmonary blastoma,Cases/families,Case(s),,350.0,Worldwide
64741,Pulmonary blastoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
64741,Pulmonary blastoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
64741,Pulmonary blastoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Belgium
64741,Pulmonary blastoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Finland
64741,Pulmonary blastoma,Annual incidence,Value and class,<1 / 1 000 000,0.001,Germany
64741,Pulmonary blastoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Italy
64741,Pulmonary blastoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Netherlands
63259,Iniencephaly,Prevalence at birth,Value and class,1-5 / 10 000,50.0,Europe
63259,Iniencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
63442,Angel-shaped phalango-epiphyseal dysplasia,Cases/families,Case(s),,20.0,Worldwide
63442,Angel-shaped phalango-epiphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
63273,FLNC-related handgrip and calf weakness-distal myopathy,Cases/families,Case(s),,16.0,Worldwide
63273,FLNC-related handgrip and calf weakness-distal myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
63275,Pemphigoid gestationis,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Germany
63275,Pemphigoid gestationis,Annual incidence,Value and class,<1 / 1 000 000,0.05,France
63275,Pemphigoid gestationis,Annual incidence,Value and class,1-9 / 1 000 000,0.18,Kuwait
63275,Pemphigoid gestationis,Point prevalence,Value and class,1-9 / 1 000 000,0.693,Germany
63454,Pattern dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
63455,Paraneoplastic pemphigus,Point prevalence,Class only,Unknown,0.0,Worldwide
63443,Rare epithelial tumor of stomach,Annual incidence,Value and class,1-5 / 10 000,18.6,Europe
63443,Rare epithelial tumor of stomach,Lifetime Prevalence,Value and class,1-5 / 10 000,49.17,Europe
63443,Rare epithelial tumor of stomach,Annual incidence,Value and class,1-9 / 100 000,7.5,United States
63443,Rare epithelial tumor of stomach,Point prevalence,Value and class,1-5 / 10 000,24.0,United States
63443,Rare epithelial tumor of stomach,Annual incidence,Value and class,1-5 / 10 000,11.2,United Kingdom
63443,Rare epithelial tumor of stomach,Point prevalence,Value and class,1-9 / 100 000,3.9,United Kingdom
63443,Rare epithelial tumor of stomach,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
63446,Acrocapitofemoral dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
63862,Schisis association,Point prevalence,Class only,Unknown,0.0,Worldwide
60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cases/families,Case(s),,170.0,Worldwide
60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
60039,Pudendal nerve entrapment syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
60039,Pudendal nerve entrapment syndrome,Point prevalence,Value and class,1-5 / 10 000,16.67,France
60041,Congenital heart block,Prevalence at birth,Value and class,1-9 / 100 000,4.54,Worldwide
60041,Congenital heart block,Point prevalence,Class only,Unknown,0.0,Worldwide
60032,Recurrent respiratory papillomatosis,Point prevalence,Value and class,1-9 / 100 000,4.0,Netherlands
60032,Recurrent respiratory papillomatosis,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Netherlands
60032,Recurrent respiratory papillomatosis,Annual incidence,Value and class,1-9 / 100 000,2.34,United States
60032,Recurrent respiratory papillomatosis,Annual incidence,Value and class,1-9 / 1 000 000,0.76,Denmark
60032,Recurrent respiratory papillomatosis,Point prevalence,Value and class,1-9 / 100 000,1.42,United Kingdom
60032,Recurrent respiratory papillomatosis,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
60033,Idiopathic bronchiectasis,Annual incidence,Value and class,1-9 / 100 000,1.8,Finland
60033,Idiopathic bronchiectasis,Prevalence at birth,Value and class,1-5 / 10 000,29.0,Finland
60033,Idiopathic bronchiectasis,Point prevalence,Value and class,1-5 / 10 000,29.0,Europe
59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,Cases/families,Case(s),,12.0,Worldwide
59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
59305,Gestational trophoblastic neoplasm,Point prevalence,Class only,Unknown,0.0,Worldwide
59305,Gestational trophoblastic neoplasm,Annual incidence,Class only,Unknown,0.0,Worldwide
59306,McLeod neuroacanthocytosis syndrome,Cases/families,Case(s),,100.0,Worldwide
59306,McLeod neuroacanthocytosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
59298,Schilder disease,Point prevalence,Class only,Unknown,0.0,Worldwide
60015,Enlarged parietal foramina,Point prevalence,Value and class,1-9 / 100 000,4.3,Europe
60015,Enlarged parietal foramina,Point prevalence,Value and class,1-9 / 100 000,3.7,Worldwide
564003,Osteochondrosis of the metatarsal bone,Point prevalence,Class only,Unknown,0.0,Worldwide
60025,Pulmonary alveolar microlithiasis,Point prevalence,Class only,Unknown,0.0,Worldwide
563991,Osteochondrosis of the tarsal bone,Point prevalence,Class only,Unknown,0.0,Worldwide
60026,Pulmonary nodular lymphoid hyperplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
564178,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
564178,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,Cases/families,Case(s),,3.0,Worldwide
60030,Loeys-Dietz syndrome,Cases/families,Family(ies),,52.0,Worldwide
60030,Loeys-Dietz syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
59315,Rhombencephalosynapsis,Cases/families,Case(s),,100.0,Worldwide
59315,Rhombencephalosynapsis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
60014,Argyria,Point prevalence,Class only,Unknown,0.0,Worldwide
57196,Medial condensing osteitis of the clavicle,Cases/families,Case(s),,58.0,Worldwide
57196,Medial condensing osteitis of the clavicle,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
563690,Furuncular myiasis due to Cordylobia rodhaini,Point prevalence,Class only,Unknown,0.0,Worldwide
57145,SUNCT syndrome,Point prevalence,Value and class,1-9 / 100 000,6.7,Europe
57145,SUNCT syndrome,Point prevalence,Value and class,1-9 / 100 000,6.7,Australia
563684,Furuncular myiasis due to Dermatobia hominis,Point prevalence,Class only,Unknown,0.0,Worldwide
563687,Furuncular myiasis due to Cordylobia anthropophaga,Point prevalence,Class only,Unknown,0.0,Worldwide
56970,Human prion disease,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Europe
56970,Human prion disease,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
56425,Cold agglutinin disease,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
59181,Sorsby fundus dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
59135,Laing distal myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
58017,Classic hairy cell leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.29,Europe
58017,Classic hairy cell leukemia,Lifetime Prevalence,Value and class,1-9 / 100 000,3.12,Europe
58017,Classic hairy cell leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.33,United States
58017,Classic hairy cell leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.29,United Kingdom
58017,Classic hairy cell leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Israel
58017,Classic hairy cell leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.47,Iceland
58017,Classic hairy cell leukemia,Annual incidence,Value and class,<1 / 1 000 000,0.035,Hong Kong
58017,Classic hairy cell leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.37,Denmark
58017,Classic hairy cell leukemia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
57782,Mazabraud syndrome,Cases/families,Case(s),,54.0,Worldwide
57782,Mazabraud syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
55595,TNP03-related limb-girdle muscular dystrophy D2,Cases/families,Case(s),,64.0,Worldwide
55595,TNP03-related limb-girdle muscular dystrophy D2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
55596,HNRNPDL-related limb-girdle muscular dystrophy D3,Cases/families,Family(ies),,2.0,Worldwide
55596,HNRNPDL-related limb-girdle muscular dystrophy D3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
54595,Craniopharyngioma,Annual incidence,Value and class,1-9 / 100 000,1.0,Worldwide
54595,Craniopharyngioma,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
54595,Craniopharyngioma,Annual incidence,Value and class,1-9 / 1 000 000,0.19,United States
54595,Craniopharyngioma,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Sweden
54368,Sarcocystosis,Point prevalence,Class only,Unknown,0.0,Worldwide
54370,Primary membranoproliferative glomerulonephritis,Point prevalence,Value and class,1-5 / 10 000,16.0,Europe
54272,Hepatocellular adenoma,Point prevalence,Class only,Unknown,0.0,Worldwide
56304,Atelosteogenesis type II,Cases/families,Case(s),,25.0,Worldwide
56304,Atelosteogenesis type II,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
56305,Atelosteogenesis type III,Cases/families,Case(s),,25.0,Worldwide
56305,Atelosteogenesis type III,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-5 / 10 000,12.0,Worldwide
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-9 / 100 000,5.3,Japan
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-9 / 100 000,1.5,United States
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-5 / 10 000,14.0,Poland
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-9 / 100 000,1.27,France
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Annual incidence,Value and class,1-9 / 100 000,4.37,Europe
55880,Chondrosarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.24,Europe
55880,Chondrosarcoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
55880,Chondrosarcoma,Lifetime Prevalence,Value and class,1-9 / 100 000,3.55,Europe
55881,Adamantinoma,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
55881,Adamantinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
55881,Adamantinoma,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.11,Worldwide
55654,Hypotrichosis simplex,Cases/families,Case(s),,38.0,Worldwide
55654,Hypotrichosis simplex,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
565858,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,Cases/families,Case(s),,3.0,Worldwide
565858,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
565788,Infantile inflammatory bowel disease with neurological involvement,Cases/families,Case(s),,3.0,Worldwide
565788,Infantile inflammatory bowel disease with neurological involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,4.5,Netherlands
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,3.9,Australia
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,4.8,Portugal
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,3.53,Germany
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,2.22,Sweden
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,3.08,Norway
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,1.77,Denmark
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,1.81,Poland
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,3.72,Czech Republic
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,2.29,Tunisia
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,2.04,"Taiwan, Province of China"
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,4.05,Estonia
79213,Mucopolysaccharidosis,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
79213,Mucopolysaccharidosis,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,1.53,Japan
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,1.56,Switzerland
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,1.25,Brazil
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-5 / 10 000,16.9,Saudi Arabia
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 100 000,1.35,"Korea, Republic of"
79213,Mucopolysaccharidosis,Prevalence at birth,Value and class,1-9 / 1 000 000,0.98,United States
79213,Mucopolysaccharidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.267,United States
79213,Mucopolysaccharidosis,Point prevalence,Value and class,1-9 / 100 000,1.04,Brazil
565899,POMGNT2-related limb-girdle muscular dystrophy R24,Cases/families,Case(s),,3.0,Worldwide
565899,POMGNT2-related limb-girdle muscular dystrophy R24,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
565909,Calpain-3-related limb-girdle muscular dystrophy D4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
565909,Calpain-3-related limb-girdle muscular dystrophy D4,Cases/families,Case(s),,47.0,Worldwide
79233,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79230,HJV or HAMP-related hemochromatosis,Cases/families,Case(s),,74.0,Worldwide
79230,HJV or HAMP-related hemochromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79237,Galactokinase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
566067,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,Cases/families,Case(s),,4.0,Worldwide
566067,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79234,Crigler-Najjar syndrome type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
79235,Crigler-Najjar syndrome type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
79189,Peroxisome biogenesis disorder,Prevalence at birth,Value and class,1-9 / 100 000,2.0,United States
79189,Peroxisome biogenesis disorder,Point prevalence,Class only,1-9 / 100 000,0.0,United States
79189,Peroxisome biogenesis disorder,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Japan
79189,Peroxisome biogenesis disorder,Point prevalence,Class only,1-9 / 1 000 000,0.0,Japan
79189,Peroxisome biogenesis disorder,Point prevalence,Class only,Unknown,0.0,Worldwide
565624,Combined oxidative phosphorylation defect type 39,Cases/families,Case(s),,6.0,Worldwide
565624,Combined oxidative phosphorylation defect type 39,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
565612,Primary triglyceride deposit cardiomyovasculopathy,Cases/families,Case(s),,200.0,Worldwide
565612,Primary triglyceride deposit cardiomyovasculopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
79201,Glycogen storage disease,Point prevalence,Value and class,1-9 / 100 000,1.51,China
565782,Methotrexate toxicity,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
79157,2-methylbutyryl-CoA dehydrogenase deficiency,Cases/families,Case(s),,30.0,Worldwide
79157,2-methylbutyryl-CoA dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79156,Seizures-intellectual disability due to hydroxylysinuria syndrome,Cases/families,Case(s),,6.0,Worldwide
79156,Seizures-intellectual disability due to hydroxylysinuria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79155,Hydroxykynureninuria,Cases/families,Case(s),,30.0,Worldwide
79155,Hydroxykynureninuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79154,2-aminoadipic 2-oxoadipic aciduria,Cases/families,Case(s),,20.0,Worldwide
79154,2-aminoadipic 2-oxoadipic aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79153,Idiopathic trachyonychia,Point prevalence,Class only,Unknown,0.0,Worldwide
79152,Disseminated superficial actinic porokeratosis,Point prevalence,Class only,Unknown,0.0,Worldwide
79151,Acrokeratosis verruciformis of Hopf,Point prevalence,Class only,Unknown,0.0,Worldwide
79150,Linear and whorled nevoid hypermelanosis,Cases/families,Case(s),,16.0,Worldwide
79150,Linear and whorled nevoid hypermelanosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79149,Dermochondrocorneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79149,Dermochondrocorneal dystrophy,Cases/families,Case(s),,15.0,Worldwide
79148,Elastosis perforans serpiginosa,Point prevalence,Class only,Unknown,0.0,Worldwide
79147,Familial reactive perforating collagenosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79147,Familial reactive perforating collagenosis,Cases/families,Case(s),,50.0,Worldwide
79145,Dowling-Degos disease,Point prevalence,Class only,Unknown,0.0,Worldwide
79144,Isolated congenital onychodysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
79143,Isolated congenital anonychia,Cases/families,Case(s),,50.0,Worldwide
79143,Isolated congenital anonychia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79172,Creatine deficiency syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
79168,Disorder of bile acid synthesis,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Europe
79158,Cerebral organic aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
79159,Isobutyryl-CoA dehydrogenase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79107,Developmental malformations-deafness-dystonia syndrome,Cases/families,Case(s),,15.0,Worldwide
79107,Developmental malformations-deafness-dystonia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
566231,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,Cases/families,Case(s),,35.0,Worldwide
566231,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79106,Eiken syndrome,Cases/families,Case(s),,6.0,Worldwide
79106,Eiken syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,Point prevalence,Class only,Unknown,0.0,United States
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,Point prevalence,Class only,Unknown,0.0,Japan
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,Prevalence at birth,Value and class,1-9 / 100 000,2.47,United States
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,Prevalence at birth,Value and class,1-9 / 100 000,2.4,Japan
79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,Cases/families,Case(s),,3.0,Worldwide
79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79113,Mandibulofacial dysostosis-microcephaly syndrome,Cases/families,Case(s),,107.0,Worldwide
79113,Mandibulofacial dysostosis-microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79102,Thyrotoxic periodic paralysis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
79105,Myxofibrosarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
79099,Interstitial granulomatous dermatitis with arthritis,Cases/families,Case(s),,53.0,Worldwide
79099,Interstitial granulomatous dermatitis with arthritis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79098,Sympathetic ophthalmia,Annual incidence,Value and class,<1 / 1 000 000,0.03,United Kingdom
79098,Sympathetic ophthalmia,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Europe
79101,Hyperprolinemia type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
566192,Congenital autosomal recessive small-platelet thrombocytopenia,Cases/families,Case(s),,5.0,Worldwide
566192,Congenital autosomal recessive small-platelet thrombocytopenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79100,Atrophoderma vermiculata,Point prevalence,Class only,Unknown,0.0,Worldwide
79095,Congenital bile acid synthesis defect type 4,Cases/families,Case(s),,5.0,Worldwide
79095,Congenital bile acid synthesis defect type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79094,Grange syndrome,Cases/families,Case(s),,7.0,Worldwide
79094,Grange syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
566175,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79097,Folinic acid-responsive seizures,Point prevalence,Class only,Unknown,0.0,Worldwide
79096,Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
79096,Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
79138,Bickerstaff brainstem encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
79139,Japanese encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.65,Europe
79139,Japanese encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.27,Worldwide
79140,Cutaneous neuroendocrine carcinoma,Point prevalence,Value and class,1-9 / 100 000,4.0,Europe
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Europe
79140,Cutaneous neuroendocrine carcinoma,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.86,Europe
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,<1 / 1 000 000,0.06,Finland
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.7,United States
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Denmark
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.378,France
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.8,Australia
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.0,New Zealand
79140,Cutaneous neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 100 000,4.0,Norway
79141,Hereditary painful callosities,Cases/families,Family(ies),,2.0,Worldwide
79141,Hereditary painful callosities,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79134,DEND syndrome,Cases/families,Case(s),,40.0,Worldwide
79134,DEND syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79135,Episodic ataxia type 3,Cases/families,Family(ies),,1.0,Worldwide
79135,Episodic ataxia type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79136,Episodic ataxia type 4,Cases/families,Family(ies),,2.0,Worldwide
79136,Episodic ataxia type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79137,Generalized epilepsy-paroxysmal dyskinesia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
79129,Trichodysplasia-amelogenesis imperfecta syndrome,Cases/families,Family(ies),,1.0,Worldwide
79129,Trichodysplasia-amelogenesis imperfecta syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79133,Focal facial dermal dysplasia type I,Cases/families,Case(s),,81.0,Worldwide
79133,Focal facial dermal dysplasia type I,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,Cases/families,Case(s),,28.0,Worldwide
79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79126,Acute interstitial pneumonia,Point prevalence,Value and class,1-9 / 100 000,3.8,Europe
79127,Respiratory bronchiolitis-interstitial lung disease syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
79128,Lymphoid interstitial pneumonia,Point prevalence,Class only,Unknown,0.0,Worldwide
77293,Chronic visceral acid sphingomyelinase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
77293,Chronic visceral acid sphingomyelinase deficiency,Point prevalence,Class only,Unknown,0.0,Europe
77295,Odontoleukodystrophy,Cases/families,Case(s),,4.0,Worldwide
77295,Odontoleukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
77261,Gaucher disease type 3,Point prevalence,Value and class,<1 / 1 000 000,0.05,Europe
77292,Infantile neurovisceral acid sphingomyelinase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.25,Europe
77292,Infantile neurovisceral acid sphingomyelinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,Cases/families,Case(s),,30.0,Worldwide
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
77299,Microphthalmia-brain atrophy syndrome,Cases/families,Case(s),,3.0,Worldwide
77299,Microphthalmia-brain atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
77296,Morgagni-Stewart-Morel syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
77297,Majeed syndrome,Cases/families,Family(ies),,4.0,Worldwide
77297,Majeed syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
567502,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,Cases/families,Case(s),,10.0,Worldwide
567502,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
77300,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,Cases/families,Case(s),,2.0,Worldwide
77300,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
77301,Monosomy 9q22.3 syndrome,Cases/families,Case(s),,42.0,Worldwide
77301,Monosomy 9q22.3 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
567550,Idiopathic multidrug-resistant nephrotic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
567548,Idiopathic steroid-resistant nephrotic syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.2582,Worldwide
567548,Idiopathic steroid-resistant nephrotic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
567546,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,Point prevalence,Class only,Unknown,0.0,Worldwide
567544,Idiopathic non-lupus full-house nephropathy,Point prevalence,Class only,Unknown,0.0,Worldwide
79083,PPARG-related familial partial lipodystrophy,Cases/families,Case(s),,10.0,Worldwide
79083,PPARG-related familial partial lipodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79078,IgG4-related dacryoadenitis and sialadenitis,Point prevalence,Class only,Unknown,0.0,Worldwide
79076,Juvenile polyposis of infancy,Cases/families,Case(s),,11.0,Worldwide
79076,Juvenile polyposis of infancy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79087,Acquired partial lipodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
79087,Acquired partial lipodystrophy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
79086,Acquired generalized lipodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
79086,Acquired generalized lipodystrophy,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
79085,AKT2-related familial partial lipodystrophy,Cases/families,Family(ies),,1.0,Worldwide
79085,AKT2-related familial partial lipodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79084,"Familial partial lipodystrophy, Köbberling type",Cases/families,Case(s),,20.0,Worldwide
79084,"Familial partial lipodystrophy, Köbberling type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
567983,Parenteral nutrition-associated cholestasis,Point prevalence,Class only,Unknown,0.0,Worldwide
79091,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,Cases/families,Case(s),,21.0,Worldwide
79091,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79088,Localized lipodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
75327,North Carolina macular dystrophy,Cases/families,Family(ies),,2.0,Worldwide
75327,North Carolina macular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75373,Progressive bifocal chorioretinal atrophy,Cases/families,Family(ies),,2.0,Worldwide
75373,Progressive bifocal chorioretinal atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75374,Bradyopsia,Cases/families,Case(s),,5.0,Worldwide
75374,Bradyopsia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75376,Familial drusen,Point prevalence,Class only,Unknown,0.0,Worldwide
75377,Central areolar choroidal dystrophy,Point prevalence,Value and class,1-9 / 100 000,3.33,France
75377,Central areolar choroidal dystrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
75378,Oligocone trichromacy,Cases/families,Case(s),,14.0,Worldwide
75378,Oligocone trichromacy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75381,Cystoid macular dystrophy,Cases/families,Case(s),,97.0,Worldwide
75381,Cystoid macular dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75382,Oguchi disease,Cases/families,Case(s),,50.0,Worldwide
75382,Oguchi disease,Point prevalence,Class only,Unknown,0.0,Worldwide
75389,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,Cases/families,Case(s),,2.0,Worldwide
75389,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
566841,Liver adenomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Cases/families,Case(s),,4.0,Worldwide
75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75392,Periodontal Ehlers-Danlos syndrome,Cases/families,Case(s),,62.0,Worldwide
75392,Periodontal Ehlers-Danlos syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
75496,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75496,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,Cases/families,Case(s),,34.0,Worldwide
75497,X-linked Ehlers-Danlos syndrome,Cases/families,Family(ies),,2.0,Worldwide
75497,X-linked Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75563,X-linked sideroblastic anemia,Cases/families,Case(s),,200.0,Worldwide
75563,X-linked sideroblastic anemia,Point prevalence,Class only,Unknown,0.0,Worldwide
566943,Mueller-Weiss syndrome,Cases/families,Case(s),,277.0,Worldwide
566943,Mueller-Weiss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75565,Tropical endomyocardial fibrosis,Point prevalence,Class only,Unknown,0.0,Worldwide
75564,Acquired idiopathic sideroblastic anemia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
75564,Acquired idiopathic sideroblastic anemia,Annual incidence,Value and class,<1 / 1 000 000,0.09,Europe
75567,Primary progressive freezing gait,Point prevalence,Class only,Unknown,0.0,Worldwide
75566,Loeffler endocarditis,Point prevalence,Class only,Unknown,0.0,Worldwide
75857,6q terminal deletion syndrome,Cases/families,Case(s),,19.0,Worldwide
75857,6q terminal deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75840,Ullrich congenital muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
75840,Ullrich congenital muscular dystrophy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
77240,Primary lymphedema,Point prevalence,Value and class,1-5 / 10 000,16.7,Europe
75858,MORM syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
77258,Trichorhinophalangeal syndrome type 1,Cases/families,Case(s),,250.0,Worldwide
77258,Trichorhinophalangeal syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
77260,Gaucher disease type 2,Point prevalence,Value and class,<1 / 1 000 000,0.01,Europe
77259,Gaucher disease type 1,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
77259,Gaucher disease type 1,Prevalence at birth,Value and class,1-9 / 100 000,2.48,Italy
73271,Bleeding diathesis due to a collagen receptor defect,Cases/families,Case(s),,20.0,Worldwide
73271,Bleeding diathesis due to a collagen receptor defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
73263,Zygomycosis,Point prevalence,Class only,Unknown,0.0,Worldwide
73267,Non-24-hour sleep-wake syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
73256,Central neurocytoma,Cases/families,Case(s),,500.0,Worldwide
73256,Central neurocytoma,Point prevalence,Class only,Unknown,0.0,Worldwide
73260,Paracoccidioidomycosis,Point prevalence,Class only,Unknown,0.0,Worldwide
73246,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,Cases/families,Case(s),,2.0,Worldwide
73246,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
569821,Congenital primary lymphedema of Gordon,Cases/families,Case(s),,23.0,Worldwide
569821,Congenital primary lymphedema of Gordon,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
73423,Acute ackee fruit intoxication,Point prevalence,Class only,Unknown,0.0,Worldwide
569816,CELSR1-related late-onset primary lymphedema,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
569816,CELSR1-related late-onset primary lymphedema,Cases/families,Case(s),,11.0,Worldwide
73272,Growth delay due to insulin-like growth factor type 1 deficiency,Cases/families,Case(s),,5.0,Worldwide
73272,Growth delay due to insulin-like growth factor type 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
73273,Growth delay due to insulin-like growth factor I resistance,Point prevalence,Class only,Unknown,0.0,Worldwide
75326,Familial isolated retinal arteriolar tortuosity,Cases/families,Case(s),,100.0,Worldwide
75326,Familial isolated retinal arteriolar tortuosity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75325,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,Cases/families,Case(s),,3.0,Worldwide
75325,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
75249,Familial isolated restrictive cardiomyopathy,Point prevalence,Class only,Unknown,0.0,Europe
75234,Cholesteryl ester storage disease,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Germany
75234,Cholesteryl ester storage disease,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Specific population
75234,Cholesteryl ester storage disease,Point prevalence,Class only,Unknown,0.0,Worldwide
75233,Wolman disease,Prevalence at birth,Value and class,1-9 / 1 000 000,0.19,Australia
75233,Wolman disease,Point prevalence,Class only,Unknown,0.0,Worldwide
568065,EPHB4-related lymphatic-related hydrops fetalis,Cases/families,Family(ies),,2.0,Worldwide
568065,EPHB4-related lymphatic-related hydrops fetalis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71290,Familial platelet disorder with associated myeloid malignancy,Cases/families,Case(s),,259.0,Worldwide
71290,Familial platelet disorder with associated myeloid malignancy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
568062,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
568062,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,Cases/families,Case(s),,10.0,Worldwide
71493,Familial thrombocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71505,Cancer-associated retinopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
568056,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,Cases/families,Case(s),,2.0,Worldwide
568056,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
568051,GJC2-related late-onset primary lymphedema,Point prevalence,Class only,Unknown,0.0,Worldwide
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,Cases/families,Case(s),,20.0,Worldwide
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71526,Obesity due to pro-opiomelanocortin deficiency,Cases/families,Case(s),,7.0,Worldwide
71526,Obesity due to pro-opiomelanocortin deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71528,Obesity due to prohormone convertase I deficiency,Cases/families,Case(s),,16.0,Worldwide
71528,Obesity due to prohormone convertase I deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71529,Obesity due to melanocortin 4 receptor deficiency,Point prevalence,Value and class,1-5 / 10 000,50.0,France
71529,Obesity due to melanocortin 4 receptor deficiency,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
569164,Angiomatoid fibrous histiocytoma,Point prevalence,Class only,Unknown,0.0,Worldwide
71517,Rapid-onset dystonia-parkinsonism,Cases/families,Case(s),,100.0,Worldwide
71517,Rapid-onset dystonia-parkinsonism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71518,Benign paroxysmal torticollis of infancy,Cases/families,Case(s),,150.0,Worldwide
71518,Benign paroxysmal torticollis of infancy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
71519,Psychogenic movement disorders,Point prevalence,Class only,Unknown,0.0,Worldwide
569274,Multiple mitochondrial dysfunctions syndrome type 5,Cases/families,Case(s),,6.0,Worldwide
569274,Multiple mitochondrial dysfunctions syndrome type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
569290,Multiple mitochondrial dysfunctions syndrome type 6,Cases/families,Case(s),,5.0,Worldwide
569290,Multiple mitochondrial dysfunctions syndrome type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
569248,Microcystic stromal tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
73229,HANAC syndrome,Cases/families,Family(ies),,6.0,Worldwide
73229,HANAC syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
73224,Kidney tubulopathy-dilated cardiomyopathy syndrome,Cases/families,Case(s),,2.0,Worldwide
73224,Kidney tubulopathy-dilated cardiomyopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
73245,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,Cases/families,Case(s),,2.0,Worldwide
73245,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
73230,Ossification anomalies-psychomotor developmental delay syndrome,Cases/families,Case(s),,2.0,Worldwide
73230,Ossification anomalies-psychomotor developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
73217,Müllerian aplasia,Point prevalence,Class only,1-5 / 10 000,0.0,Finland
73217,Müllerian aplasia,Prevalence at birth,Value and class,1-5 / 10 000,10.0,Finland
73217,Müllerian aplasia,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
73223,Global developmental delay-osteopenia-ectodermal defect syndrome,Cases/families,Case(s),,3.0,Worldwide
73223,Global developmental delay-osteopenia-ectodermal defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
40366,Acitretin/etretinate embryopathy,Cases/families,Case(s),,26.0,Worldwide
40366,Acitretin/etretinate embryopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
40923,Eales disease,Point prevalence,Class only,Unknown,0.0,Worldwide
39812,Graft versus host disease,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
530849,Familial apolipoprotein A5 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
530849,Familial apolipoprotein A5 deficiency,Cases/families,Family(ies),,3.0,Worldwide
39041,Omenn syndrome,Cases/families,Case(s),,25.0,Worldwide
39041,Omenn syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
530838,KRT1-related diffuse nonepidermolytic keratoderma,Point prevalence,Class only,Unknown,0.0,Worldwide
39044,Uveal melanoma,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Europe
39044,Uveal melanoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
39044,Uveal melanoma,Lifetime Prevalence,Value and class,1-9 / 100 000,6.0,Europe
39044,Uveal melanoma,Annual incidence,Value and class,<1 / 1 000 000,0.03,Africa
530792,RELA fusion-positive ependymoma,Point prevalence,Class only,Unknown,0.0,Worldwide
38874,Dihydropyrimidinuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
37748,Schnitzler syndrome,Cases/families,Case(s),,150.0,Worldwide
37748,Schnitzler syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
37612,Episodic ataxia type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
37553,Andersen-Tawil syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
37553,Andersen-Tawil syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
37553,Andersen-Tawil syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.08,United Kingdom
37553,Andersen-Tawil syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Netherlands
37202,Interstitial cystitis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
37202,Interstitial cystitis,Point prevalence,Value and class,1-5 / 10 000,10.6,Finland
37202,Interstitial cystitis,Point prevalence,Value and class,1-5 / 10 000,30.0,United States
37202,Interstitial cystitis,Annual incidence,Value and class,1-9 / 1 000 000,0.66,Finland
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,Cases/families,Case(s),,195.0,Worldwide
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
36913,Autoimmune hypoparathyroidism,Annual incidence,Class only,Unknown,0.0,Worldwide
36913,Autoimmune hypoparathyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
36913,Autoimmune hypoparathyroidism,Annual incidence,Value and class,<1 / 1 000 000,0.013,"Korea, Republic of"
36913,Autoimmune hypoparathyroidism,Point prevalence,Value and class,<1 / 1 000 000,0.023,Denmark
36899,Myoclonus-dystonia syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
531151,9q21.13 microdeletion syndrome,Cases/families,Case(s),,10.0,Worldwide
531151,9q21.13 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
530983,Lamb-Shaffer syndrome,Cases/families,Case(s),,70.0,Worldwide
530983,Lamb-Shaffer syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
530995,Mixed phenotype acute leukemia,Point prevalence,Class only,Unknown,0.0,Worldwide
41751,Bietti crystalline dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
42062,Iminoglycinuria,Prevalence at birth,Value and class,1-9 / 100 000,6.67,Europe
42062,Iminoglycinuria,Point prevalence,Value and class,1-9 / 100 000,6.68,Europe
35705,Neurometabolic disorder due to serine deficiency,Cases/families,Case(s),,30.0,Worldwide
35705,Neurometabolic disorder due to serine deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
35706,Glutaric acidemia type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
35704,L-Arginine:glycine amidinotransferase deficiency,Cases/families,Case(s),,9.0,Worldwide
35704,L-Arginine:glycine amidinotransferase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
35710,Glucose-galactose malabsorption,Point prevalence,Class only,Unknown,0.0,Worldwide
35710,Glucose-galactose malabsorption,Prevalence at birth,Value and class,1-9 / 1 000 000,0.22,France
35737,Morning glory disc anomaly,Point prevalence,Class only,Unknown,0.0,Worldwide
35708,Aromatic L-amino acid decarboxylase deficiency,Cases/families,Case(s),,140.0,Worldwide
35708,Aromatic L-amino acid decarboxylase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
35689,Primary lateral sclerosis,Point prevalence,Value and class,1-9 / 100 000,1.5,Europe
35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,Cases/families,Case(s),,9.0,Worldwide
35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
35698,Mitochondrial DNA depletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
35698,Mitochondrial DNA depletion syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Israel
35698,Mitochondrial DNA depletion syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.1,Specific population
35612,Nanophthalmos,Point prevalence,Class only,Unknown,0.0,Worldwide
35173,X-linked dominant chondrodysplasia punctata,Prevalence at birth,Value and class,1-9 / 1 000 000,0.25,Europe
35173,X-linked dominant chondrodysplasia punctata,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
35687,Erdheim-Chester disease,Cases/families,Case(s),,500.0,Worldwide
35687,Erdheim-Chester disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
35664,ALDH18A1-related De Barsy syndrome,Cases/families,Case(s),,32.0,Worldwide
35664,ALDH18A1-related De Barsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
35656,Coenzyme Q10 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
35107,Desmosterolosis,Cases/families,Case(s),,10.0,Worldwide
35107,Desmosterolosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
35125,Epidermal nevus syndrome,Cases/families,Case(s),,400.0,Worldwide
35125,Epidermal nevus syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
35122,Congenital sucrase-isomaltase deficiency,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
35121,Lysosomal acid phosphatase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
36387,Genetic epilepsy with febrile seizure plus,Point prevalence,Class only,Unknown,0.0,Worldwide
36388,Paraneoplastic neurologic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
36397,Adiposis dolorosa,Point prevalence,Class only,Unknown,0.0,Worldwide
36412,Hypocomplementemic urticarial vasculitis,Point prevalence,Class only,Unknown,0.0,Worldwide
36426,Stevens-Johnson syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Europe
36426,Stevens-Johnson syndrome,Point prevalence,Class only,Unknown,0.0,Europe
36355,Bleeding disorder due to P2Y12 defect,Cases/families,Case(s),,14.0,Worldwide
36355,Bleeding disorder due to P2Y12 defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
36386,Hereditary sensory and autonomic neuropathy type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
36234,Bacterial toxic-shock syndrome,Point prevalence,Value and class,1-9 / 100 000,3.0,Worldwide
36236,Staphylococcal scalded skin syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.01,Germany
36236,Staphylococcal scalded skin syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
36238,Staphylococcal necrotizing pneumonia,Point prevalence,Class only,Unknown,0.0,Worldwide
36237,Bullous impetigo,Point prevalence,Class only,Unknown,0.0,Worldwide
36273,Gastric linitis plastica,Point prevalence,Class only,Unknown,0.0,Worldwide
36258,Buerger disease,Point prevalence,Value and class,1-5 / 10 000,16.0,Worldwide
36258,Buerger disease,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
35808,Malignant sex cord stromal tumor of ovary,Point prevalence,Value and class,1-9 / 100 000,1.85,Europe
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Europe
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.1,United States
35808,Malignant sex cord stromal tumor of ovary,Point prevalence,Class only,Unknown,0.0,Worldwide
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.05,Finland
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.043,Iceland
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.074,Ireland
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.069,Italy
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.094,Malta
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.045,Portugal
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.063,Slovenia
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.039,Spain
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.073,Switzerland
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.093,Netherlands
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.089,United Kingdom
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.133,Austria
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.102,Belgium
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.367,Bulgaria
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.152,Croatia
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.314,Czech Republic
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.296,Estonia
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.135,Germany
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.401,Latvia
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.236,Lithuania
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Norway
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.232,Poland
35808,Malignant sex cord stromal tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.212,Slovakia
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.08,Europe
35807,Malignant germ cell tumor of ovary,Lifetime Prevalence,Value and class,1-9 / 100 000,2.3,Europe
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.2,United States
35807,Malignant germ cell tumor of ovary,Point prevalence,Class only,Unknown,0.0,Worldwide
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.072,Austria
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.07,Belgium
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.089,Bulgaria
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.093,Croatia
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.087,Czech Republic
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.062,Finland
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.065,Germany
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.085,Iceland
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.065,Ireland
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.065,Italy
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.081,Latvia
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.095,Lithuania
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.09,Norway
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.098,Poland
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.064,Portugal
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.075,Slovenia
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.072,Spain
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.051,Switzerland
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.061,Netherlands
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,<1 / 1 000 000,0.064,United Kingdom
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.157,Estonia
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.126,Malta
35807,Malignant germ cell tumor of ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.141,Slovakia
35878,Hyperinsulinism-hyperammonemia syndrome,Point prevalence,Class only,Unknown,0.0,Europe
35858,Imerslund-Gräsbeck syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Finland
35858,Imerslund-Gräsbeck syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Norway
35858,Imerslund-Gräsbeck syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
35858,Imerslund-Gräsbeck syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
35909,Combined deficiency of factor V and factor VIII,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
35909,Combined deficiency of factor V and factor VIII,Point prevalence,Value and class,1-9 / 100 000,1.0,"Iran, Islamic Republic of"
35889,Acute opioid intoxication,Point prevalence,Class only,Unknown,0.0,Worldwide
36204,Intestinal lymphangiectasia,Point prevalence,Class only,Unknown,0.0,Worldwide
35981,Polymicrogyria,Point prevalence,Class only,Unknown,0.0,Worldwide
33572,5-oxoprolinase deficiency,Cases/families,Case(s),,8.0,Worldwide
33572,5-oxoprolinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33543,Kleine-Levin syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
33543,Kleine-Levin syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.18,France
33475,Meningococcal meningitis,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
33475,Meningococcal meningitis,Annual incidence,Value and class,1-9 / 100 000,2.3,France
33475,Meningococcal meningitis,Annual incidence,Value and class,1-9 / 100 000,2.7,New Zealand
33475,Meningococcal meningitis,Annual incidence,Value and class,1-9 / 1 000 000,0.8,United States
33445,Neuroectodermal melanolysosomal disease,Cases/families,Case(s),,20.0,Worldwide
33445,Neuroectodermal melanolysosomal disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33408,Bullous lichen planus,Point prevalence,Class only,Unknown,0.0,Worldwide
535458,Familial GPIHBP1 deficiency,Cases/families,Family(ies),,10.0,Worldwide
535458,Familial GPIHBP1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33402,Pediatric hepatocellular carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
33402,Pediatric hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Europe
33402,Pediatric hepatocellular carcinoma,Annual incidence,Class only,<1 / 1 000 000,0.0,United States
34217,Naxos disease,Point prevalence,Class only,Unknown,0.0,Worldwide
33577,Nodular non-suppurative panniculitis,Point prevalence,Class only,Unknown,0.0,Worldwide
33574,Glutamate-cysteine ligase deficiency,Cases/families,Case(s),,10.0,Worldwide
33574,Glutamate-cysteine ligase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33573,Gamma-glutamyl transpeptidase deficiency,Cases/families,Case(s),,7.0,Worldwide
33573,Gamma-glutamyl transpeptidase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33110,Autosomal non-syndromic agammaglobulinemia,Cases/families,Case(s),,100.0,Worldwide
33110,Autosomal non-syndromic agammaglobulinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
33111,Granulomatous slack skin,Cases/families,Case(s),,50.0,Worldwide
33111,Granulomatous slack skin,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33108,Lethal multiple pterygium syndrome,Cases/families,Family(ies),,28.0,Worldwide
33108,Lethal multiple pterygium syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33067,"Metaphyseal chondrodysplasia, Jansen type",Cases/families,Case(s),,16.0,Worldwide
33067,"Metaphyseal chondrodysplasia, Jansen type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33069,Dravet syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Europe
33069,Dravet syndrome,Point prevalence,Class only,Unknown,0.0,Europe
33001,Lymphedema-distichiasis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
33355,Reticular dysgenesis,Annual incidence,Value and class,<1 / 1 000 000,0.03,Europe
33355,Reticular dysgenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
535453,Familial lipase maturation factor 1 deficiency,Cases/families,Family(ies),,2.0,Worldwide
535453,Familial lipase maturation factor 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33364,Trichothiodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
33364,Trichothiodystrophy,Cases/families,Case(s),,201.0,Worldwide
33364,Trichothiodystrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.12,Europe
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.34,Europe
33276,Kaposi sarcoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
33276,Kaposi sarcoma,Lifetime Prevalence,Value and class,1-9 / 100 000,2.11,Europe
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.051,Austria
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.075,Belgium
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.099,Bulgaria
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.092,Czech Republic
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.065,Estonia
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.014,Finland
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.076,Germany
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.027,Norway
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.043,Poland
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.05,Slovakia
33276,Kaposi sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.056,Slovenia
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.133,Croatia
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.111,Ireland
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.108,Latvia
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.112,Lithuania
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.597,Malta
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.915,Portugal
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.546,Spain
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.163,Switzerland
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.278,Netherlands
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.192,United Kingdom
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 100 000,1.363,Iceland
33276,Kaposi sarcoma,Annual incidence,Value and class,1-9 / 100 000,1.142,Italy
33314,Jessner lymphocytic infiltration of the skin,Point prevalence,Class only,Unknown,0.0,Worldwide
33208,Idiopathic hypersomnia,Point prevalence,Class only,Unknown,0.0,Worldwide
33208,Idiopathic hypersomnia,Point prevalence,Value and class,1-5 / 10 000,30.0,Europe
33226,Waldenström macroglobulinemia,Annual incidence,Value and class,1-9 / 1 000 000,0.81,Europe
33226,Waldenström macroglobulinemia,Annual incidence,Value and class,1-9 / 100 000,2.05,France
33226,Waldenström macroglobulinemia,Annual incidence,Value and class,1-9 / 1 000 000,0.38,United States
33226,Waldenström macroglobulinemia,Annual incidence,Value and class,1-9 / 1 000 000,0.55,United Kingdom
33226,Waldenström macroglobulinemia,Annual incidence,Value and class,1-9 / 1 000 000,0.31,Spain
33226,Waldenström macroglobulinemia,Point prevalence,Class only,Unknown,0.0,Worldwide
33226,Waldenström macroglobulinemia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
35069,Infantile neuroaxonal dystrophy,Cases/families,Case(s),,150.0,Worldwide
35069,Infantile neuroaxonal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
35093,Non-syndromic sagittal craniosynostosis,Point prevalence,Value and class,1-5 / 10 000,20.7,Australia
35093,Non-syndromic sagittal craniosynostosis,Prevalence at birth,Value and class,1-5 / 10 000,20.7,Australia
35078,T-B+ severe combined immunodeficiency due to JAK3 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
35062,Severe disseminated cytomegalovirus infection in immunocompetent patients,Point prevalence,Class only,Unknown,0.0,Worldwide
34520,Congenital muscular dystrophy with integrin alpha-7 deficiency,Point prevalence,Value and class,<1 / 1 000 000,0.03,Europe
34514,Telethonin-related limb-girdle muscular dystrophy R7,Cases/families,Case(s),,16.0,Worldwide
34514,Telethonin-related limb-girdle muscular dystrophy R7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
34515,FKRP-related limb-girdle muscular dystrophy R9,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
34515,FKRP-related limb-girdle muscular dystrophy R9,Point prevalence,Value and class,1-9 / 1 000 000,0.43,United Kingdom
34515,FKRP-related limb-girdle muscular dystrophy R9,Point prevalence,Value and class,1-9 / 100 000,1.85,Norway
34516,DNAJB6-related limb-girdle muscular dystrophy D1,Cases/families,Family(ies),,6.0,Worldwide
34516,DNAJB6-related limb-girdle muscular dystrophy D1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
34587,Danon disease,Cases/families,Case(s),,84.0,Worldwide
34587,Danon disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
34587,Danon disease,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Sweden
34592,Immunodeficiency by defective expression of MHC class I,Cases/families,Case(s),,30.0,Worldwide
34592,Immunodeficiency by defective expression of MHC class I,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
34528,Autosomal dominant primary hypomagnesemia with hypocalciuria,Cases/families,Case(s),,28.0,Worldwide
34528,Autosomal dominant primary hypomagnesemia with hypocalciuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
34533,Corneal dystrophy,Point prevalence,Value and class,>1 / 1000,110.0,United States
34533,Corneal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
536516,Myopathic Ehlers-Danlos syndrome,Cases/families,Case(s),,8.0,Worldwide
536516,Myopathic Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
536471,Spondylodysplastic Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
536471,Spondylodysplastic Ehlers-Danlos syndrome,Cases/families,Family(ies),,24.0,Worldwide
536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,Cases/families,Family(ies),,41.0,Worldwide
536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
536545,Kyphoscoliotic Ehlers-Danlos syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
536532,Classical-like Ehlers-Danlos syndrome type 2,Cases/families,Case(s),,7.0,Worldwide
536532,Classical-like Ehlers-Danlos syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
537072,PLG-related hereditary angioedema with normal C1Inh,Cases/families,Case(s),,105.0,Worldwide
537072,PLG-related hereditary angioedema with normal C1Inh,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
32960,Tumor necrosis factor receptor 1 associated periodic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
32960,Tumor necrosis factor receptor 1 associated periodic syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
52530,Pseudo-von Willebrand disease,Cases/families,Case(s),,60.0,Worldwide
52530,Pseudo-von Willebrand disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,1.5,Europe
52688,Myelodysplastic syndrome,Lifetime Prevalence,Value and class,1-9 / 100 000,5.02,Europe
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,4.15,Germany
52688,Myelodysplastic syndrome,Point prevalence,Value and class,1-9 / 100 000,7.0,Germany
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,6.4,France
52688,Myelodysplastic syndrome,Point prevalence,Value and class,1-9 / 100 000,1.35,Japan
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,3.35,United States
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,5.4,Greece
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,8.5,United Kingdom
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,3.5,Sweden
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Romania
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,8.1,Spain
52688,Myelodysplastic syndrome,Point prevalence,Value and class,1-5 / 10 000,15.0,United States
52688,Myelodysplastic syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,1.95,Poland
52688,Myelodysplastic syndrome,Point prevalence,Value and class,1-9 / 100 000,6.2,Poland
52688,Myelodysplastic syndrome,Annual incidence,Value and class,1-9 / 100 000,3.8,Switzerland
538096,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
538096,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,Cases/families,Case(s),,13.0,Worldwide
52503,X-linked creatine transporter deficiency,Cases/families,Case(s),,150.0,Worldwide
52503,X-linked creatine transporter deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
538101,Congenital axonal neuropathy with encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
538101,Congenital axonal neuropathy with encephalopathy,Cases/families,Case(s),,7.0,Worldwide
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Cases/families,Family(ies),,26.0,Worldwide
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
52416,Mantle cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.8,United States
52416,Mantle cell lymphoma,Point prevalence,Value and class,1-9 / 100 000,3.5,Europe
52416,Mantle cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.05,France
52427,Retinitis punctata albescens,Point prevalence,Value and class,1-9 / 1 000 000,0.125,Worldwide
52427,Retinitis punctata albescens,Point prevalence,Value and class,1-9 / 1 000 000,0.175,Europe
52417,MALT lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.3,Europe
52417,MALT lymphoma,Annual incidence,Value and class,1-9 / 100 000,1.59,United States
52417,MALT lymphoma,Point prevalence,Value and class,1-9 / 100 000,4.0,Europe
52056,Ulnar/fibula ray defect-brachydactyly syndrome,Cases/families,Family(ies),,1.0,Worldwide
52056,Ulnar/fibula ray defect-brachydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,Cases/families,Case(s),,2.0,Worldwide
52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
52368,Mohr-Tranebjaerg syndrome,Cases/families,Case(s),,91.0,Worldwide
52368,Mohr-Tranebjaerg syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53271,Muenke syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.33,Worldwide
53271,Muenke syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
53271,Muenke syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.3,Australia
53296,Familial cutaneous collagenoma,Cases/families,Case(s),,16.0,Worldwide
53296,Familial cutaneous collagenoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53347,Brody myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
52994,Orbital leiomyoma,Cases/families,Case(s),,26.0,Worldwide
52994,Orbital leiomyoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53035,Caroli disease,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Worldwide
53035,Caroli disease,Point prevalence,Class only,Unknown,0.0,Worldwide
52759,Vasculitis,Point prevalence,Value and class,1-9 / 100 000,6.3,Europe
52901,Isolated follicle stimulating hormone deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
538863,Classic pyoderma gangrenosum,Point prevalence,Class only,Unknown,0.0,Worldwide
538863,Classic pyoderma gangrenosum,Annual incidence,Class only,1-9 / 1 000 000,0.0,Italy
538756,Familial multiple discoid fibromas,Cases/families,Case(s),,44.0,Worldwide
538756,Familial multiple discoid fibromas,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,Cases/families,Case(s),,23.0,Worldwide
538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Cases/families,Case(s),,20.0,Worldwide
53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53540,Goldmann-Favre syndrome,Cases/families,Case(s),,50.0,Worldwide
53540,Goldmann-Favre syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53372,Hereditary geniospasm,Point prevalence,Class only,Unknown,0.0,Worldwide
53351,X-linked dystonia-parkinsonism,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
53351,X-linked dystonia-parkinsonism,Point prevalence,Value and class,1-9 / 1 000 000,0.31,Philippines
54247,Posterior cortical atrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
538934,X-linked lymphoproliferative disease due to XIAP deficiency,Cases/families,Case(s),,100.0,Worldwide
538934,X-linked lymphoproliferative disease due to XIAP deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
54251,Aseptic abscess syndrome,Cases/families,Case(s),,49.0,Worldwide
54251,Aseptic abscess syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
538931,X-linked lymphoproliferative disease due to SAP deficiency,Cases/families,Case(s),,100.0,Worldwide
538931,X-linked lymphoproliferative disease due to SAP deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
54057,Thrombotic thrombocytopenic purpura,Point prevalence,Class only,Unknown,0.0,Worldwide
54057,Thrombotic thrombocytopenic purpura,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Worldwide
54028,Plummer-Vinson syndrome,Cases/families,Case(s),,25.0,Worldwide
54028,Plummer-Vinson syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53721,Spinal arteriovenous metameric syndrome,Cases/families,Case(s),,45.0,Worldwide
53721,Spinal arteriovenous metameric syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
53715,Familial tumoral calcinosis,Point prevalence,Class only,Unknown,0.0,Worldwide
53696,Arthrogryposis-anterior horn cell disease syndrome,Cases/families,Case(s),,15.0,Worldwide
53696,Arthrogryposis-anterior horn cell disease syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
538872,Vegetative pyoderma gangrenosum,Point prevalence,Class only,Unknown,0.0,Worldwide
538872,Vegetative pyoderma gangrenosum,Annual incidence,Class only,<1 / 1 000 000,0.0,Italy
53697,Gnathodiaphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
538869,Bullous pyoderma gangrenosum,Point prevalence,Class only,Unknown,0.0,Worldwide
538869,Bullous pyoderma gangrenosum,Annual incidence,Class only,<1 / 1 000 000,0.0,Italy
538866,Pustular pyoderma gangrenosum,Point prevalence,Class only,Unknown,0.0,Worldwide
538866,Pustular pyoderma gangrenosum,Annual incidence,Class only,<1 / 1 000 000,0.0,Italy
53693,GRACILE syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Finland
53693,GRACILE syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Finland
53693,GRACILE syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
48818,Aceruloplasminemia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Japan
48818,Aceruloplasminemia,Point prevalence,Value and class,<1 / 1 000 000,0.09,Worldwide
49041,IgG4-related retroperitoneal fibrosis,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Europe
49041,IgG4-related retroperitoneal fibrosis,Point prevalence,Class only,1-9 / 100 000,0.0,Finland
49041,IgG4-related retroperitoneal fibrosis,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
48918,Focal myositis,Cases/families,Case(s),,115.0,Worldwide
48918,Focal myositis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
49382,Achromatopsia,Point prevalence,Value and class,1-9 / 100 000,2.7,Worldwide
49042,Dentinogenesis imperfecta,Point prevalence,Value and class,1-5 / 10 000,14.5,Europe
538958,EBV-induced lymphoproliferative disease due to CD70 deficiency,Cases/families,Case(s),,6.0,Worldwide
538958,EBV-induced lymphoproliferative disease due to CD70 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,Cases/families,Case(s),,170.0,Worldwide
48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
538963,Combined immunodeficiency due to ITK deficiency,Cases/families,Case(s),,13.0,Worldwide
538963,Combined immunodeficiency due to ITK deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
48435,Postinfectious vasculitis,Point prevalence,Class only,Unknown,0.0,Worldwide
48686,Primary effusion lymphoma,Cases/families,Case(s),,200.0,Worldwide
48686,Primary effusion lymphoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
48652,Phelan-McDermid syndrome,Cases/families,Case(s),,200.0,Worldwide
48652,Phelan-McDermid syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
50809,Talo-patello-scaphoid osteolysis,Cases/families,Case(s),,2.0,Worldwide
50809,Talo-patello-scaphoid osteolysis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
50810,Microlissencephaly-micromelia syndrome,Cases/families,Case(s),,2.0,Worldwide
50810,Microlissencephaly-micromelia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
50811,Lipodystrophy-intellectual disability-deafness syndrome,Cases/families,Case(s),,3.0,Worldwide
50811,Lipodystrophy-intellectual disability-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
50812,Zellweger-like syndrome without peroxisomal anomalies,Cases/families,Case(s),,2.0,Worldwide
50812,Zellweger-like syndrome without peroxisomal anomalies,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
50814,Craniolenticulosutural dysplasia,Cases/families,Case(s),,28.0,Worldwide
50814,Craniolenticulosutural dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
50815,Branchiogenic deafness syndrome,Cases/families,Case(s),,5.0,Worldwide
50815,Branchiogenic deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
49566,Acquired purpura fulminans,Annual incidence,Class only,Unknown,0.0,Worldwide
49566,Acquired purpura fulminans,Point prevalence,Class only,Unknown,0.0,Worldwide
49827,Thiamine-responsive megaloblastic anemia syndrome,Cases/families,Case(s),,80.0,Worldwide
49827,Thiamine-responsive megaloblastic anemia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
50251,Pleural mesothelioma,Point prevalence,Value and class,1-9 / 100 000,3.1,Europe
50251,Pleural mesothelioma,Annual incidence,Value and class,1-9 / 100 000,1.9,Europe
50251,Pleural mesothelioma,Annual incidence,Value and class,1-9 / 1 000 000,0.8,France
50251,Pleural mesothelioma,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Worldwide
50945,Blomstrand lethal chondrodysplasia,Cases/families,Case(s),,13.0,Worldwide
50945,Blomstrand lethal chondrodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
50944,Schöpf-Schulz-Passarge syndrome,Cases/families,Case(s),,25.0,Worldwide
50944,Schöpf-Schulz-Passarge syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
51083,Congenital short QT syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
51083,Congenital short QT syndrome,Cases/families,Family(ies),,80.0,Worldwide
50839,Cat-scratch disease,Point prevalence,Value and class,1-9 / 100 000,6.6,Europe
50918,Kikuchi-Fujimoto disease,Point prevalence,Class only,Unknown,0.0,Worldwide
50918,Kikuchi-Fujimoto disease,Cases/families,Case(s),,1052.0,Worldwide
50918,Kikuchi-Fujimoto disease,Annual incidence,Value and class,1-9 / 1 000 000,0.278,Martinique
52054,Craniosynostosis-intracranial calcifications syndrome,Cases/families,Case(s),,3.0,Worldwide
52054,Craniosynostosis-intracranial calcifications syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
52022,Potocki-Shaffer syndrome,Cases/families,Case(s),,40.0,Worldwide
52022,Potocki-Shaffer syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
52047,Braddock syndrome,Cases/families,Case(s),,2.0,Worldwide
52047,Braddock syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
51577,Cobblestone lissencephaly,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
51577,Cobblestone lissencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
51608,Generalized arterial calcification of infancy,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Worldwide
51608,Generalized arterial calcification of infancy,Cases/families,Case(s),,300.0,Worldwide
51188,Ethylmalonic encephalopathy,Cases/families,Case(s),,80.0,Worldwide
51188,Ethylmalonic encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
541423,Growth delay-intellectual disability-hepatopathy syndrome,Cases/families,Case(s),,6.0,Worldwide
541423,Growth delay-intellectual disability-hepatopathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
51208,Formiminoglutamic aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
51636,WHIM syndrome,Cases/families,Case(s),,65.0,Worldwide
51636,WHIM syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
51636,WHIM syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.023,France
51890,Anterior cutaneous nerve entrapment syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
51890,Anterior cutaneous nerve entrapment syndrome,Annual incidence,Value and class,6-9 / 10 000,55.6,Netherlands
542306,GNB5-related intellectual disability-cardiac arrhythmia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
542306,GNB5-related intellectual disability-cardiac arrhythmia syndrome,Cases/families,Case(s),,22.0,Worldwide
542301,EBV-induced lymphoproliferative disease due to CARMIL2 deficiency,Cases/families,Case(s),,21.0,Worldwide
542301,EBV-induced lymphoproliferative disease due to CARMIL2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
542310,Leukoencephalopathy with calcifications and cysts,Cases/families,Case(s),,50.0,Worldwide
542310,Leukoencephalopathy with calcifications and cysts,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
42642,PFAPA syndrome,Cases/families,Case(s),,500.0,Worldwide
42642,PFAPA syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
42665,Tietz syndrome,Cases/families,Family(ies),,2.0,Worldwide
42665,Tietz syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
542323,CAR T cell therapy-associated cytokine release syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
43117,Acute tricyclic antidepressant poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
542585,Auditory neuropathy-optic atrophy syndrome,Cases/families,Case(s),,8.0,Worldwide
542585,Auditory neuropathy-optic atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
43116,Serotonin syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
542592,Necrobiosis lipoidica,Point prevalence,Class only,Unknown,0.0,Worldwide
43393,Lambert-Eaton myasthenic syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.06,Netherlands
43393,Lambert-Eaton myasthenic syndrome,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
43393,Lambert-Eaton myasthenic syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.35,Worldwide
43119,Acute poisoning by drugs with membrane-stabilizing effect,Point prevalence,Class only,Unknown,0.0,Worldwide
542643,Livedoid vasculopathy,Annual incidence,Value and class,1-9 / 100 000,1.0,United States
542643,Livedoid vasculopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
42775,PHACE syndrome,Cases/families,Case(s),,300.0,Worldwide
42775,PHACE syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
42738,Severe congenital neutropenia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Europe
42738,Severe congenital neutropenia,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Europe
42738,Severe congenital neutropenia,Point prevalence,Value and class,<1 / 1 000 000,0.07,Worldwide
42738,Severe congenital neutropenia,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Sweden
42738,Severe congenital neutropenia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Sweden
42738,Severe congenital neutropenia,Point prevalence,Value and class,1-9 / 1 000 000,0.6,France
42738,Severe congenital neutropenia,Point prevalence,Value and class,<1 / 1 000 000,0.077,"Iran, Islamic Republic of"
42738,Severe congenital neutropenia,Point prevalence,Value and class,1-5 / 10 000,25.7,China
43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,Cases/families,Case(s),,19.0,Worldwide
43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
45448,Miyoshi myopathy,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Japan
45448,Miyoshi myopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.26,United Kingdom
45448,Miyoshi myopathy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
543470,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,Cases/families,Case(s),,17.0,Worldwide
543470,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
45453,Incessant infant ventricular tachycardia,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Europe
45453,Incessant infant ventricular tachycardia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
45453,Incessant infant ventricular tachycardia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,United Kingdom
45453,Incessant infant ventricular tachycardia,Point prevalence,Class only,1-9 / 1 000 000,0.0,United Kingdom
45452,Idiopathic neonatal atrial flutter,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Europe
45452,Idiopathic neonatal atrial flutter,Prevalence at birth,Value and class,1-9 / 100 000,2.1,United Kingdom
45452,Idiopathic neonatal atrial flutter,Point prevalence,Class only,Unknown,0.0,Worldwide
542657,Isolated hyperchlorhidrosis,Cases/families,Case(s),,13.0,Worldwide
542657,Isolated hyperchlorhidrosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
44890,Gastrointestinal stromal tumor,Point prevalence,Value and class,1-5 / 10 000,13.0,Europe
44890,Gastrointestinal stromal tumor,Annual incidence,Value and class,1-9 / 100 000,1.0,Europe
44890,Gastrointestinal stromal tumor,Annual incidence,Value and class,1-9 / 100 000,1.0,Worldwide
44890,Gastrointestinal stromal tumor,Annual incidence,Value and class,1-9 / 100 000,1.9,"Korea, Republic of"
44890,Gastrointestinal stromal tumor,Point prevalence,Value and class,1-5 / 10 000,14.5,Hong Kong
44890,Gastrointestinal stromal tumor,Annual incidence,Value and class,1-9 / 100 000,1.82,Hong Kong
44890,Gastrointestinal stromal tumor,Annual incidence,Value and class,1-9 / 100 000,1.5,United States
44890,Gastrointestinal stromal tumor,Point prevalence,Value and class,1-5 / 10 000,12.9,Sweden
45358,Congenital fibrosis of extraocular muscles,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
45358,Congenital fibrosis of extraocular muscles,Point prevalence,Value and class,1-9 / 1 000 000,0.43,United Kingdom
46487,Epidermolysis bullosa acquisita,Annual incidence,Value and class,<1 / 1 000 000,0.03,Europe
46487,Epidermolysis bullosa acquisita,Annual incidence,Value and class,<1 / 1 000 000,0.02,France
46487,Epidermolysis bullosa acquisita,Annual incidence,Value and class,<1 / 1 000 000,0.05,Germany
46487,Epidermolysis bullosa acquisita,Annual incidence,Value and class,<1 / 1 000 000,0.05,Singapore
46487,Epidermolysis bullosa acquisita,Point prevalence,Class only,Unknown,0.0,Europe
46487,Epidermolysis bullosa acquisita,Annual incidence,Value and class,<1 / 1 000 000,0.008,Serbia
46487,Epidermolysis bullosa acquisita,Point prevalence,Value and class,1-9 / 1 000 000,0.284,Germany
544254,SYNGAP1-related developmental and epileptic encephalopathy,Cases/families,Case(s),,57.0,Worldwide
544254,SYNGAP1-related developmental and epileptic encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
46488,Linear IgA dermatosis,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Germany
46488,Linear IgA dermatosis,Annual incidence,Value and class,<1 / 1 000 000,0.069,Kuwait
46488,Linear IgA dermatosis,Annual incidence,Value and class,<1 / 1 000 000,0.026,Singapore
46488,Linear IgA dermatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Germany
46488,Linear IgA dermatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.207,Kuwait
46488,Linear IgA dermatosis,Point prevalence,Value and class,<1 / 1 000 000,0.078,Singapore
46485,Superficial pemphigus,Point prevalence,Value and class,1-9 / 100 000,1.2,Europe
46486,Mucous membrane pemphigoid,Annual incidence,Value and class,1-9 / 1 000 000,0.13,France
46486,Mucous membrane pemphigoid,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Germany
46486,Mucous membrane pemphigoid,Point prevalence,Class only,Unknown,0.0,Europe
46486,Mucous membrane pemphigoid,Point prevalence,Value and class,1-9 / 100 000,2.456,Germany
46348,Paroxysmal extreme pain disorder,Cases/families,Family(ies),,4.0,Worldwide
46348,Paroxysmal extreme pain disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
46484,Oligodendroglial tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.35,Europe
46484,Oligodendroglial tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
46484,Oligodendroglial tumor,Annual incidence,Value and class,1-9 / 1 000 000,0.24,United States
46059,Lathosterolosis,Cases/families,Case(s),,4.0,Worldwide
46059,Lathosterolosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
46135,Primary central nervous system lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.44,United States
46135,Primary central nervous system lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Sweden
46724,Brain arteriovenous malformation,Point prevalence,Value and class,1-9 / 100 000,6.0,Europe
46627,Char syndrome,Cases/families,Case(s),,109.0,Worldwide
46627,Char syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
48372,Nodular regenerative hyperplasia of the liver,Annual incidence,Value and class,1-9 / 1 000 000,0.34,Spain
48372,Nodular regenerative hyperplasia of the liver,Point prevalence,Value and class,1-9 / 100 000,3.1,Spain
48372,Nodular regenerative hyperplasia of the liver,Point prevalence,Class only,Unknown,0.0,Worldwide
48162,Lewis-Sumner syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.9,Europe
544493,Streptococcus pneumoniae-associated hemolytic uremic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
48104,Pyoderma gangrenosum,Annual incidence,Value and class,1-9 / 100 000,1.0,United States
48104,Pyoderma gangrenosum,Annual incidence,Value and class,1-9 / 1 000 000,0.91,United Kingdom
48104,Pyoderma gangrenosum,Point prevalence,Class only,Unknown,0.0,Worldwide
48104,Pyoderma gangrenosum,Annual incidence,Value and class,1-9 / 1 000 000,0.33,Spain
48104,Pyoderma gangrenosum,Annual incidence,Value and class,1-9 / 1 000 000,0.74,Worldwide
48104,Pyoderma gangrenosum,Annual incidence,Value and class,1-9 / 1 000 000,0.517,Italy
544503,RNF13-related severe early-onset epileptic encephalopathy,Cases/families,Case(s),,3.0,Worldwide
544503,RNF13-related severe early-onset epileptic encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
47612,Felty syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
544482,Infection-related hemolytic uremic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
47159,Proximal renal tubular acidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
544488,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,Cases/families,Case(s),,5.0,Worldwide
544488,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
544469,PRUNE1-related neurological syndrome,Cases/families,Case(s),,48.0,Worldwide
544469,PRUNE1-related neurological syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,Point prevalence,Class only,Unknown,0.0,Europe
47045,Familial cold urticaria,Annual incidence,Class only,Unknown,0.0,Europe
47045,Familial cold urticaria,Point prevalence,Class only,Unknown,0.0,Europe
544628,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
544628,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,Cases/families,Case(s),,7.0,Worldwide
544602,Congenital myopathy with reduced type 2 muscle fibers,Cases/families,Case(s),,2.0,Worldwide
544602,Congenital myopathy with reduced type 2 muscle fibers,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
48377,Subcorneal pustular dermatosis,Cases/families,Case(s),,200.0,Worldwide
48377,Subcorneal pustular dermatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
544578,"Congenital primary megaureter, refluxing and obstructed form",Point prevalence,Class only,Unknown,0.0,Worldwide
555402,NAD(P)HX dehydratase deficiency,Cases/families,Case(s),,6.0,Worldwide
555402,NAD(P)HX dehydratase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
555434,Fibrohistiocytic inflammatory pseudotumor of the liver,Point prevalence,Class only,Unknown,0.0,Worldwide
555407,NAD(P)HX epimerase deficiency,Cases/families,Case(s),,11.0,Worldwide
555407,NAD(P)HX epimerase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
68367,Rare inborn errors of metabolism,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Germany
555437,Lymphoplasmacytic inflammatory pseudotumor of the liver,Point prevalence,Class only,Unknown,0.0,Worldwide
555874,Congenital tricuspid valve dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
555877,FLNA-related X-linked myxomatous valvular dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
555905,IgA pemphigus,Point prevalence,Class only,Unknown,0.0,Worldwide
556030,Early-onset familial hypoaldosteronism,Point prevalence,Class only,Unknown,0.0,Worldwide
556037,Late-onset familial hypoaldosteronism,Point prevalence,Class only,Unknown,0.0,Worldwide
556985,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
556985,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,Cases/families,Case(s),,13.0,Worldwide
556955,Pancreatic agenesis-holoprosencephaly syndrome,Cases/families,Case(s),,4.0,Worldwide
556955,Pancreatic agenesis-holoprosencephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
557064,Neonatal epileptic encephalopathy due to glutaminase deficiency,Cases/families,Case(s),,4.0,Worldwide
557064,Neonatal epileptic encephalopathy due to glutaminase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
557056,Spastic ataxia-dysarthria due to glutaminase deficiency,Cases/families,Case(s),,5.0,Worldwide
557056,Spastic ataxia-dysarthria due to glutaminase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
557003,Oculoskeletodental syndrome,Cases/families,Case(s),,5.0,Worldwide
557003,Oculoskeletodental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90065,Acquired aneurysmal subarachnoid hemorrhage,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
90066,Pneumonia caused by Pseudomonas aeruginosa infection,Point prevalence,Value and class,1-5 / 10 000,50.0,Europe
90068,Cocaine intoxication,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
90061,Non-infectious posterior uveitis,Point prevalence,Value and class,1-5 / 10 000,18.0,Europe
519384,Congenital cystic eye,Cases/families,Case(s),,52.0,Worldwide
519384,Congenital cystic eye,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90062,Acute liver failure,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
519388,Autosomal recessive anterior segment dysgenesis,Cases/families,Case(s),,8.0,Worldwide
519388,Autosomal recessive anterior segment dysgenesis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90064,Acute peripheral arterial occlusion,Point prevalence,Value and class,1-5 / 10 000,16.0,Europe
90073,Hepatitis B reinfection following liver transplantation,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
90076,Partial deep dermal and full thickness burns,Point prevalence,Value and class,1-5 / 10 000,10.0,Europe
90069,Systemic monochloroacetate poisoning,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
90050,Retinopathy of prematurity,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
90045,Hereditary folate malabsorption,Cases/families,Case(s),,30.0,Worldwide
90045,Hereditary folate malabsorption,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90052,Recurrent hepatitis C virus induced liver disease in liver transplant recipients,Point prevalence,Value and class,1-9 / 100 000,7.0,Europe
90051,Sepsis in premature infants,Point prevalence,Value and class,1-5 / 10 000,32.0,Europe
90041,Gaisböck syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
90039,Hemoglobin D disease,Point prevalence,Class only,Unknown,0.0,Worldwide
90044,Familial pseudohyperkalemia,Point prevalence,Class only,Unknown,0.0,Worldwide
90042,Primary familial polycythemia,Point prevalence,Class only,Unknown,0.0,Worldwide
90058,Spinal cord injury,Annual incidence,Value and class,1-9 / 100 000,3.57,Canada
90058,Spinal cord injury,Point prevalence,Value and class,1-5 / 10 000,32.0,Europe
90060,Diffuse alveolar hemorrhage,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
90059,Sudden sensorineural hearing loss,Point prevalence,Value and class,1-5 / 10 000,40.0,Europe
90053,Complications after hematopoietic stem cell transplantation,Point prevalence,Value and class,1-9 / 1 000 000,0.65,Europe
90056,Moderate and severe traumatic brain injury,Point prevalence,Value and class,1-5 / 10 000,37.8,Europe
90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",Cases/families,Case(s),,56.0,Worldwide
90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90023,Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency,Cases/families,Case(s),,4.0,Worldwide
90023,Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90003,Inflammatory pseudotumor of the liver,Cases/families,Case(s),,140.0,Worldwide
90003,Inflammatory pseudotumor of the liver,Point prevalence,Class only,Unknown,0.0,Worldwide
90037,Drug-induced autoimmune hemolytic anemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
90038,Shiga toxin-associated hemolytic uremic syndrome,Annual incidence,Value and class,1-9 / 100 000,2.1,United States
90038,Shiga toxin-associated hemolytic uremic syndrome,Point prevalence,Class only,Unknown,0.0,Europe
90035,Paroxysmal cold hemoglobinuria,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
90036,Mixed-type autoimmune hemolytic anemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
90031,Non-spherocytic hemolytic anemia due to hexokinase deficiency,Cases/families,Family(ies),,17.0,Worldwide
90031,Non-spherocytic hemolytic anemia due to hexokinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90033,"Autoimmune hemolytic anemia, warm type",Point prevalence,Class only,1-9 / 100 000,0.0,Europe
90026,Primary erythromelalgia,Annual incidence,Value and class,1-9 / 100 000,1.1,United States
90026,Primary erythromelalgia,Point prevalence,Class only,Unknown,0.0,Worldwide
90030,Hemolytic anemia due to glutathione reductase deficiency,Cases/families,Case(s),,3.0,Worldwide
90030,Hemolytic anemia due to glutathione reductase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
89936,X-linked hypophosphatemia,Point prevalence,Value and class,1-9 / 100 000,1.89,Norway
89936,X-linked hypophosphatemia,Point prevalence,Value and class,1-9 / 100 000,1.54,United Kingdom
89936,X-linked hypophosphatemia,Point prevalence,Value and class,1-9 / 100 000,1.66,Europe
89936,X-linked hypophosphatemia,Annual incidence,Value and class,1-9 / 100 000,4.5,Worldwide
89936,X-linked hypophosphatemia,Point prevalence,Value and class,1-9 / 100 000,2.14,Worldwide
89844,"Lissencephaly syndrome, Norman-Roberts type",Point prevalence,Class only,Unknown,0.0,Worldwide
89843,Dystrophic epidermolysis bullosa pruriginosa,Cases/families,Family(ies),,100.0,Worldwide
89843,Dystrophic epidermolysis bullosa pruriginosa,Point prevalence,Class only,Unknown,0.0,Worldwide
89842,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",Point prevalence,Class only,Unknown,0.0,Worldwide
90001,X-linked cone dysfunction syndrome with myopia,Cases/families,Family(ies),,10.0,Worldwide
90001,X-linked cone dysfunction syndrome with myopia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90000,Erythema elevatum diutinum,Point prevalence,Class only,Unknown,0.0,Worldwide
89938,Bartter syndrome type 4,Point prevalence,Class only,Unknown,0.0,Europe
89937,Autosomal dominant hypophosphatemic rickets,Cases/families,Case(s),,100.0,Worldwide
89937,Autosomal dominant hypophosphatemic rickets,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90340,Blau syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.06,Denmark
90340,Blau syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
90342,Xeroderma pigmentosum variant,Cases/families,Case(s),,50.0,Worldwide
90342,Xeroderma pigmentosum variant,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90348,Autosomal dominant cutis laxa,Cases/families,Case(s),,50.0,Worldwide
90348,Autosomal dominant cutis laxa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90349,Autosomal recessive cutis laxa type 1,Cases/families,Case(s),,60.0,Worldwide
90349,Autosomal recessive cutis laxa type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90350,Autosomal recessive cutis laxa type 2,Cases/families,Case(s),,40.0,Worldwide
90350,Autosomal recessive cutis laxa type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90354,Brittle cornea syndrome,Cases/families,Case(s),,65.0,Worldwide
90354,Brittle cornea syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90362,Primary intestinal lymphangiectasia,Point prevalence,Class only,Unknown,0.0,Worldwide
90289,Localized scleroderma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
90301,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,Cases/families,Case(s),,5.0,Worldwide
90301,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,15.4,Europe
90291,Systemic sclerosis,Annual incidence,Value and class,>1 / 1000,230.0,Spain
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,27.7,Spain
90291,Systemic sclerosis,Point prevalence,Value and class,1-9 / 100 000,8.8,United Kingdom
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,17.3,France
90291,Systemic sclerosis,Annual incidence,Value and class,>1 / 1000,110.0,Greece
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,15.4,Greece
90291,Systemic sclerosis,Annual incidence,Value and class,6-9 / 10 000,72.0,Japan
90291,Systemic sclerosis,Point prevalence,Value and class,1-9 / 100 000,4.6,Japan
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,30.0,United States
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,44.3,Canada
90291,Systemic sclerosis,Annual incidence,Value and class,>1 / 1000,204.0,Australia
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,23.3,Australia
90291,Systemic sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.09,"Taiwan, Province of China"
90291,Systemic sclerosis,Point prevalence,Value and class,1-9 / 100 000,5.63,"Taiwan, Province of China"
90291,Systemic sclerosis,Point prevalence,Value and class,1-5 / 10 000,22.2,Italy
90291,Systemic sclerosis,Annual incidence,Value and class,1-9 / 100 000,1.7,Italy
90308,Capillary-lymphatic-venous malformation with segmental distribution,Annual incidence,Value and class,<1 / 1 000 000,0.007,United States
90308,Capillary-lymphatic-venous malformation with segmental distribution,Point prevalence,Value and class,<1 / 1 000 000,0.007,Europe
90307,Parkes Weber syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
90156,Centrifugal lipodystrophy,Cases/families,Case(s),,168.0,Worldwide
90156,Centrifugal lipodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90157,Drug-induced localized lipodystrophy,Cases/families,Case(s),,10.0,Worldwide
90157,Drug-induced localized lipodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90158,Idiopathic localized lipodystrophy,Point prevalence,Class only,,0.0,Worldwide
90159,Panniculitis-induced localized lipodystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
90280,Chilblain lupus,Cases/families,Case(s),,70.0,Worldwide
90280,Chilblain lupus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90281,Discoid lupus erythematosus,Annual incidence,Value and class,1-9 / 100 000,3.56,United States
90281,Discoid lupus erythematosus,Annual incidence,Value and class,1-9 / 100 000,3.2,Sweden
90281,Discoid lupus erythematosus,Point prevalence,Value and class,1-5 / 10 000,30.0,Worldwide
90186,Meige disease,Point prevalence,Class only,Unknown,0.0,Worldwide
90285,Lupus erythematosus panniculitis,Annual incidence,Value and class,<1 / 1 000 000,0.07,United States
90285,Lupus erythematosus panniculitis,Point prevalence,Value and class,1-9 / 1 000 000,0.315,United States
90283,Lupus erythematosus tumidus,Cases/families,Case(s),,250.0,Worldwide
90283,Lupus erythematosus tumidus,Point prevalence,Class only,Unknown,0.0,Worldwide
90080,Scarring in glaucoma filtration surgical procedures,Point prevalence,Value and class,1-5 / 10 000,22.0,Europe
90078,Invasive infections due to vancomycin-resistant enterococci,Point prevalence,Class only,Unknown,0.0,Worldwide
90103,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,Cases/families,Case(s),,7.0,Worldwide
90103,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
514980,ATP13A2-related parkinsonism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90081,AIDS wasting syndrome,Point prevalence,Value and class,1-5 / 10 000,20.0,Europe
90117,"Hereditary motor and sensory neuropathy, Okinawa type",Cases/families,Case(s),,120.0,Worldwide
90117,"Hereditary motor and sensory neuropathy, Okinawa type",Point prevalence,Class only,Unknown,0.0,Worldwide
90114,Autosomal dominant intermediate Charcot-Marie-Tooth disease,Point prevalence,Class only,Unknown,0.0,Worldwide
90120,Hereditary motor and sensory neuropathy type 6,Cases/families,Case(s),,73.0,Worldwide
90120,Hereditary motor and sensory neuropathy type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,6.2,United States
88673,Hepatocellular carcinoma,Point prevalence,Value and class,1-5 / 10 000,15.0,Europe
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,6.264,France
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.106,United Kingdom
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.129,Germany
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.212,Spain
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,9.266,Italy
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-5 / 10 000,15.0,Greece
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.0,Canada
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.0,Oceania
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-5 / 10 000,12.5,Latin America
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-5 / 10 000,35.0,China
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-5 / 10 000,29.0,Japan
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-5 / 10 000,49.0,"Korea, Republic of"
88673,Hepatocellular carcinoma,Annual incidence,Value and class,6-9 / 10 000,99.0,Mongolia
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-5 / 10 000,16.0,Africa
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,3.221,Europe
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.296,Austria
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.275,Belgium
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.697,Bulgaria
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.762,Croatia
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.979,Czech Republic
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.487,Estonia
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,3.382,Finland
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.278,Iceland
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.045,Ireland
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.933,Latvia
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.146,Lithuania
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.627,Norway
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.925,Poland
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.345,Portugal
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.762,Slovakia
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,6.649,Switzerland
88673,Hepatocellular carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.127,Netherlands
88644,"Autosomal recessive ataxia, Beauce type",Cases/families,Case(s),,57.0,Worldwide
88644,"Autosomal recessive ataxia, Beauce type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88659,Autosomal dominant progressive nephropathy with hypertension,Cases/families,Case(s),,14.0,Worldwide
88659,Autosomal dominant progressive nephropathy with hypertension,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88661,Amelogenesis imperfecta,Point prevalence,Value and class,1-9 / 100 000,7.1,United States
88661,Amelogenesis imperfecta,Point prevalence,Value and class,6-9 / 10 000,90.0,India
88661,Amelogenesis imperfecta,Point prevalence,Value and class,>1 / 1000,142.0,Sweden
88661,Amelogenesis imperfecta,Point prevalence,Class only,Unknown,0.0,Worldwide
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88639,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,Cases/families,Case(s),,20.0,Worldwide
88639,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88642,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,Cases/families,Case(s),,20.0,Worldwide
88642,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88643,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,Cases/families,Case(s),,2.0,Worldwide
88643,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88635,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,Cases/families,Case(s),,4.0,Worldwide
88635,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88621,Ichthyosis-prematurity syndrome,Cases/families,Family(ies),,16.0,Worldwide
88621,Ichthyosis-prematurity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88628,Posterior column ataxia-retinitis pigmentosa syndrome,Cases/families,Case(s),,20.0,Worldwide
88628,Posterior column ataxia-retinitis pigmentosa syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88629,Tritanopia,Point prevalence,Value and class,1-9 / 100 000,4.8,Europe
88630,Terminal osseous dysplasia-pigmentary defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88620,Isolated congenital anosmia,Cases/families,Case(s),,15.0,Worldwide
88620,Isolated congenital anosmia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88619,Familial acute necrotizing encephalopathy,Cases/families,Family(ies),,14.0,Worldwide
88619,Familial acute necrotizing encephalopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88618,S-adenosylhomocysteine hydrolase deficiency,Cases/families,Case(s),,15.0,Worldwide
88618,S-adenosylhomocysteine hydrolase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
87884,Rare non-syndromic genetic deafness,Point prevalence,Class only,Unknown,0.0,Worldwide
87876,Sialidosis type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
87876,Sialidosis type 2,Prevalence at birth,Class only,<1 / 1 000 000,0.0,Europe
87503,Mal de Meleda,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
86920,Dermatopathia pigmentosa reticularis,Cases/families,Case(s),,20.0,Worldwide
86920,Dermatopathia pigmentosa reticularis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86919,Keratosis palmaris et plantaris-clinodactyly syndrome,Cases/families,Case(s),,20.0,Worldwide
86919,Keratosis palmaris et plantaris-clinodactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86918,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,Cases/families,Case(s),,10.0,Worldwide
86918,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86915,Lymphedema-atrial septal defects-facial changes syndrome,Cases/families,Case(s),,5.0,Worldwide
86915,Lymphedema-atrial septal defects-facial changes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
522077,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,Cases/families,Case(s),,11.0,Worldwide
522077,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86913,Myoclonic epilepsy in non-progressive encephalopathies,Point prevalence,Class only,Unknown,0.0,Worldwide
86914,Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome,Cases/families,Case(s),,5.0,Worldwide
86914,Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86909,Myoclonic epilepsy of infancy,Cases/families,Case(s),,106.0,Worldwide
86909,Myoclonic epilepsy of infancy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521450,LAMA5-related multisystemic syndrome,Cases/families,Case(s),,11.0,Worldwide
521450,LAMA5-related multisystemic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521445,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,Cases/families,Case(s),,10.0,Worldwide
521445,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521438,Congenital vertebral-cardiac-renal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521438,Congenital vertebral-cardiac-renal anomalies syndrome,Cases/families,Case(s),,4.0,Worldwide
86900,Interdigitating dendritic cell sarcoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
521432,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521432,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,Cases/families,Case(s),,2.0,Worldwide
86902,Follicular dendritic cell sarcoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
521426,PLAA-associated neurodevelopmental disorder,Cases/families,Case(s),,15.0,Worldwide
521426,PLAA-associated neurodevelopmental disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86896,Histiocytic sarcoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
521414,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,Cases/families,Case(s),,51.0,Worldwide
521414,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521258,Xq25 microduplication syndrome,Cases/families,Case(s),,28.0,Worldwide
521258,Xq25 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521305,Proximal myopathy with focal depletion of mitochondria,Cases/families,Case(s),,4.0,Worldwide
521305,Proximal myopathy with focal depletion of mitochondria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521308,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,Cases/families,Case(s),,11.0,Worldwide
521308,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,Cases/families,Case(s),,4.0,Worldwide
521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521406,Dystonia-parkinsonism-hypermanganesemia syndrome,Cases/families,Case(s),,11.0,Worldwide
521406,Dystonia-parkinsonism-hypermanganesemia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
89838,Autosomal recessive generalized epidermolysis bullosa simplex,Cases/families,Case(s),,19.0,Worldwide
89838,Autosomal recessive generalized epidermolysis bullosa simplex,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521411,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,Cases/families,Case(s),,2.0,Worldwide
521411,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
521219,Mirizzi syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
88949,MUC1-related autosomal dominant tubulointerstitial kidney disease,Annual incidence,Class only,Unknown,0.0,Worldwide
88949,MUC1-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Class only,Unknown,0.0,Worldwide
88949,MUC1-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Value and class,<1 / 1 000 000,0.07,United States
88949,MUC1-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Ireland
88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Value and class,1-9 / 1 000 000,1.7,Austria
88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Value and class,1-9 / 1 000 000,9.0,United Kingdom
88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Class only,Unknown,0.0,Worldwide
88991,Rare congenital non-syndromic heart malformation,Prevalence at birth,Value and class,1-9 / 100 000,7.8,Europe
88991,Rare congenital non-syndromic heart malformation,Prevalence at birth,Value and class,>1 / 1000,223.0,Canada
88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,Cases/families,Case(s),,30.0,Worldwide
88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
88917,X-linked Alport syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.25,Sweden
88917,X-linked Alport syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
93256,Fragile X-associated tremor/ataxia syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,United States
93256,Fragile X-associated tremor/ataxia syndrome,Lifetime Prevalence,Value and class,1-9 / 100 000,6.3,United States
93256,Fragile X-associated tremor/ataxia syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
528105,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,Cases/families,Case(s),,22.0,Worldwide
528105,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
528091,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Cases/families,Case(s),,1.0,Worldwide
528091,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
528084,Non-specific syndromic intellectual disability,Point prevalence,Class only,Unknown,0.0,Worldwide
93262,Crouzon syndrome-acanthosis nigricans syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Worldwide
93262,Crouzon syndrome-acanthosis nigricans syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
93260,Pfeiffer syndrome type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
93259,Pfeiffer syndrome type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
93258,Pfeiffer syndrome type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",Prevalence at birth,Value and class,1-9 / 100 000,5.2,United Arab Emirates
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",Point prevalence,Class only,<1 / 1 000 000,0.0,United Arab Emirates
93269,"Short rib-polydactyly syndrome, Majewski type",Cases/families,Case(s),,34.0,Worldwide
93269,"Short rib-polydactyly syndrome, Majewski type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93267,Cloverleaf skull-multiple congenital anomalies syndrome,Cases/families,Case(s),,3.0,Worldwide
93267,Cloverleaf skull-multiple congenital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",Cases/families,Case(s),,17.0,Worldwide
93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93283,"Spondyloepiphyseal dysplasia, Kimberley type",Cases/families,Family(ies),,1.0,Worldwide
93283,"Spondyloepiphyseal dysplasia, Kimberley type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,Cases/families,Family(ies),,4.0,Worldwide
93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93274,Thanatophoric dysplasia type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
93108,Renal dysplasia,Point prevalence,Class only,Unknown,0.0,Europe
93108,Renal dysplasia,Prevalence at birth,Value and class,1-5 / 10 000,43.5,Europe
527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,Cases/families,Case(s),,25.0,Worldwide
527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93101,Renal hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
93110,Posterior urethral valve,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
93110,Posterior urethral valve,Prevalence at birth,Value and class,1-9 / 100 000,4.125,Europe
93110,Posterior urethral valve,Prevalence at birth,Value and class,1-9 / 100 000,6.4,Australia
93109,Congenital megacalycosis,Cases/families,Case(s),,25.0,Worldwide
93109,Congenital megacalycosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
527450,Severe myopia-generalized joint laxity-short stature syndrome,Cases/families,Case(s),,5.0,Worldwide
527450,Severe myopia-generalized joint laxity-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91547,Relapsing fever,Point prevalence,Class only,Unknown,0.0,Worldwide
93100,"Renal agenesis, unilateral",Point prevalence,Class only,Unknown,0.0,Europe
93100,"Renal agenesis, unilateral",Prevalence at birth,Value and class,1-5 / 10 000,50.0,Worldwide
527468,Diaphragmatic hernia-short bowel-asplenia syndrome,Cases/families,Case(s),,2.0,Worldwide
527468,Diaphragmatic hernia-short bowel-asplenia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
92050,Congenital tufting enteropathy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
92050,Congenital tufting enteropathy,Point prevalence,Class only,Unknown,0.0,Worldwide
93160,Hypocalcemic vitamin D-resistant rickets,Point prevalence,Class only,Unknown,0.0,Worldwide
93164,Transient pseudohypoaldosteronism,Cases/families,Case(s),,152.0,Worldwide
93164,Transient pseudohypoaldosteronism,Point prevalence,Class only,Unknown,0.0,Worldwide
93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,Cases/families,Case(s),,21.0,Worldwide
93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93111,HNF1B-related autosomal dominant tubulointerstitial kidney disease,Point prevalence,Class only,Unknown,0.0,Europe
93126,Pauci-immune glomerulonephritis,Point prevalence,Class only,Unknown,0.0,Worldwide
93172,"Renal dysplasia, unilateral",Point prevalence,Class only,1-5 / 10 000,0.0,Europe
93172,"Renal dysplasia, unilateral",Prevalence at birth,Class only,1-5 / 10 000,0.0,Europe
93173,"Renal dysplasia, bilateral",Point prevalence,Class only,Unknown,0.0,Europe
93322,Isolated tibial hemimelia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Europe
93322,Isolated tibial hemimelia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
93321,Isolated radial hemimelia,Prevalence at birth,Value and class,1-9 / 100 000,2.5,Worldwide
93321,Isolated radial hemimelia,Point prevalence,Class only,1-9 / 100 000,2.5,Worldwide
93320,Isolated ulnar hemimelia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
93323,Isolated fibular hemimelia,Prevalence at birth,Value and class,1-9 / 100 000,1.1033,Worldwide
93323,Isolated fibular hemimelia,Point prevalence,Value and class,1-9 / 100 000,1.1033,Worldwide
93329,Autosomal recessive omodysplasia,Cases/families,Case(s),,23.0,Worldwide
93329,Autosomal recessive omodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93335,Postaxial polydactyly type B,Point prevalence,Value and class,1-5 / 10 000,43.5,Mexico
93335,Postaxial polydactyly type B,Prevalence at birth,Value and class,1-5 / 10 000,43.5,Mexico
93334,Postaxial polydactyly type A,Point prevalence,Value and class,1-5 / 10 000,15.7,Mexico
93334,Postaxial polydactyly type A,Prevalence at birth,Value and class,1-5 / 10 000,15.7,Mexico
93333,Pelviscapular dysplasia,Cases/families,Case(s),,4.0,Worldwide
93333,Pelviscapular dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93337,Polydactyly of an index finger,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
527276,Encephalopathy due to mitochondrial and peroxisomal fission defect,Cases/families,Case(s),,15.0,Worldwide
527276,Encephalopathy due to mitochondrial and peroxisomal fission defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",Cases/families,Case(s),,30.0,Worldwide
93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93347,Anauxetic dysplasia,Cases/families,Case(s),,10.0,Worldwide
93347,Anauxetic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93356,"Spondyloepimetaphyseal dysplasia, Missouri type",Cases/families,Case(s),,14.0,Worldwide
93356,"Spondyloepimetaphyseal dysplasia, Missouri type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93351,"Spondyloepimetaphyseal dysplasia, Irapa type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93352,"Spondyloepimetaphyseal dysplasia, Shohat type",Cases/families,Case(s),,5.0,Worldwide
93352,"Spondyloepimetaphyseal dysplasia, Shohat type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93284,Spondyloepiphyseal dysplasia tarda,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
93296,Achondrogenesis type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
93298,Achondrogenesis type 1B,Point prevalence,Class only,Unknown,0.0,Worldwide
93297,Hypochondrogenesis,Point prevalence,Class only,Unknown,0.0,Worldwide
93299,Achondrogenesis type 1A,Point prevalence,Class only,Unknown,0.0,Worldwide
93302,"Brachyolmia, Maroteaux type",Cases/families,Family(ies),,4.0,Worldwide
93302,"Brachyolmia, Maroteaux type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93307,Multiple epiphyseal dysplasia type 4,Point prevalence,Class only,Unknown,0.0,Worldwide
93308,Multiple epiphyseal dysplasia type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
93311,Multiple epiphyseal dysplasia type 5,Cases/families,Family(ies),,18.0,Worldwide
93311,Multiple epiphyseal dysplasia type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93314,"Spondylometaphyseal dysplasia, Kozlowski type",Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",Cases/families,Case(s),,30.0,Worldwide
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93316,"Spondylometaphyseal dysplasia, Schmidt type",Cases/families,Case(s),,7.0,Worldwide
93316,"Spondylometaphyseal dysplasia, Schmidt type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93317,"Spondylometaphyseal dysplasia, Sedaghatian type",Cases/families,Case(s),,9.0,Worldwide
93317,"Spondylometaphyseal dysplasia, Sedaghatian type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529962,17q24.2 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529962,17q24.2 microdeletion syndrome,Cases/families,Case(s),,19.0,Worldwide
529864,Secondary erythromelalgia,Point prevalence,Class only,Unknown,0.0,Worldwide
529864,Secondary erythromelalgia,Annual incidence,Value and class,1-9 / 1 000 000,0.2,United States
529852,Combined hepatocellular carcinoma and cholangiocarcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
90673,Hypothyroidism due to TSH receptor mutations,Point prevalence,Class only,Unknown,0.0,Worldwide
90674,Isolated thyroid-stimulating hormone deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
529831,Letrozole toxicity,Point prevalence,Class only,Unknown,0.0,Worldwide
529808,Chronic bilirubin encephalopathy,Point prevalence,Class only,Unknown,0.0,Canada
529808,Chronic bilirubin encephalopathy,Point prevalence,Class only,Unknown,0.0,Denmark
529808,Chronic bilirubin encephalopathy,Point prevalence,Class only,Unknown,0.0,United States
529808,Chronic bilirubin encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.49,Canada
529808,Chronic bilirubin encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Denmark
529808,Chronic bilirubin encephalopathy,Prevalence at birth,Value and class,1-9 / 100 000,1.0,United States
90658,Charcot-Marie-Tooth disease type 1E,Point prevalence,Class only,Unknown,0.0,Worldwide
529799,Acute bilirubin encephalopathy,Point prevalence,Class only,Unknown,0.0,United Kingdom
529799,Acute bilirubin encephalopathy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.87,United Kingdom
90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,Cases/families,Case(s),,68.0,Worldwide
90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90790,Congenital lipoid adrenal hyperplasia due to STAR deficency,Point prevalence,Class only,Unknown,0.0,Worldwide
529980,Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome,Cases/families,Case(s),,1.0,Worldwide
529980,Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529977,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,Cases/families,Case(s),,7.0,Worldwide
529977,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90695,Non-acquired panhypopituitarism,Cases/families,Case(s),,41.0,Worldwide
90695,Non-acquired panhypopituitarism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Cases/families,Case(s),,5.0,Worldwide
529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529970,Male infertility due to acephalic spermatozoa,Point prevalence,Class only,Unknown,0.0,Worldwide
90400,Scleromyxedema without monoclonal gammopathy,Cases/families,Case(s),,15.0,Worldwide
90400,Scleromyxedema without monoclonal gammopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90625,Rare X-linked non-syndromic sensorineural deafness type DFN,Point prevalence,Class only,Unknown,0.0,Worldwide
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Point prevalence,Class only,Unknown,0.0,Worldwide
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,Point prevalence,Class only,Unknown,0.0,Worldwide
90396,Acral persistent papular mucinosis,Cases/families,Case(s),,40.0,Worldwide
90396,Acral persistent papular mucinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529468,Monoclonal mast cell activation syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
90397,Self-healing papular mucinosis,Cases/families,Case(s),,24.0,Worldwide
90397,Self-healing papular mucinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529574,Duane retraction syndrome with congenital deafness,Cases/families,Case(s),,4.0,Worldwide
529574,Duane retraction syndrome with congenital deafness,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90398,Localized lichen myxedematosus with mixed features of different subtypes,Cases/families,Case(s),,10.0,Worldwide
90398,Localized lichen myxedematosus with mixed features of different subtypes,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90399,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,Cases/families,Case(s),,5.0,Worldwide
90399,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90395,Papular mucinosis of infancy,Cases/families,Case(s),,14.0,Worldwide
90395,Papular mucinosis of infancy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90368,Hypotrichosis simplex of the scalp,Point prevalence,Class only,Unknown,0.0,Worldwide
90390,Anonychia-onychodystrophy syndrome,Cases/families,Case(s),,14.0,Worldwide
90390,Anonychia-onychodystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90652,Otopalatodigital syndrome type 2,Cases/families,Case(s),,40.0,Worldwide
90652,Otopalatodigital syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,Cases/families,Case(s),,10.0,Worldwide
529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90647,Jervell and Lange-Nielsen syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Worldwide
90650,Otopalatodigital syndrome type 1,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
90646,Deafness-hypogonadism syndrome,Cases/families,Case(s),,5.0,Worldwide
90646,Deafness-hypogonadism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90641,Rare mitochondrial non-syndromic sensorineural deafness,Point prevalence,Class only,Unknown,0.0,Worldwide
91387,Familial thoracic aortic aneurysm and aortic dissection,Cases/families,Case(s),,22.0,Worldwide
91387,Familial thoracic aortic aneurysm and aortic dissection,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91396,Isolated cryptophthalmia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91396,Isolated cryptophthalmia,Cases/families,Case(s),,30.0,Worldwide
91378,Hereditary angioedema,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
91378,Hereditary angioedema,Point prevalence,Value and class,1-9 / 100 000,1.4,Denmark
91378,Hereditary angioedema,Point prevalence,Value and class,1-9 / 100 000,1.51,Norway
91378,Hereditary angioedema,Point prevalence,Value and class,1-9 / 100 000,1.09,Spain
91385,Acquired angioedema,Point prevalence,Value and class,1-9 / 1 000 000,0.11,Denmark
91385,Acquired angioedema,Cases/families,Case(s),,200.0,Worldwide
91385,Acquired angioedema,Point prevalence,Class only,Unknown,0.0,Worldwide
91412,Marcus-Gunn syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
91397,Isolated ankyloblepharon filiforme adnatum,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
91411,Congenital ptosis,Point prevalence,Class only,Unknown,0.0,Worldwide
91355,Sheehan syndrome,Annual incidence,Class only,Unknown,0.0,Worldwide
91355,Sheehan syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
91359,Chronic pneumonitis of infancy,Point prevalence,Class only,Unknown,0.0,Worldwide
91496,Snowflake vitreoretinal degeneration,Cases/families,Case(s),,50.0,Worldwide
91496,Snowflake vitreoretinal degeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91495,Persistent hyperplastic primary vitreous,Point prevalence,Class only,Unknown,0.0,Worldwide
91494,Macular coloboma-cleft palate-hallux valgus syndrome,Cases/families,Case(s),,2.0,Worldwide
91494,Macular coloboma-cleft palate-hallux valgus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91546,Lyme disease,Annual incidence,Value and class,>1 / 1000,177.5,Europe
91546,Lyme disease,Annual incidence,Value and class,1-5 / 10 000,16.6,France
91546,Lyme disease,Annual incidence,Value and class,1-5 / 10 000,21.9,Worldwide
91546,Lyme disease,Annual incidence,Value and class,1-5 / 10 000,12.37,Hungary
91546,Lyme disease,Annual incidence,Value and class,1-5 / 10 000,36.0,Sweden
91546,Lyme disease,Annual incidence,Value and class,>1 / 1000,100.0,United States
91546,Lyme disease,Point prevalence,Class only,Unknown,0.0,Europe
91500,Tubulointerstitial nephritis and uveitis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
91498,Familial congenital palsy of trochlear nerve,Cases/families,Case(s),,6.0,Worldwide
91498,Familial congenital palsy of trochlear nerve,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91481,Ring dermoid of cornea,Cases/families,Case(s),,30.0,Worldwide
91481,Ring dermoid of cornea,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91416,Isolated congenital alacrima,Point prevalence,Class only,Unknown,0.0,Worldwide
91414,Pilomatrixoma,Point prevalence,Class only,Unknown,0.0,Worldwide
91127,Adenovirus infection in immunocompromised patients,Point prevalence,Value and class,1-5 / 10 000,18.0,Europe
91130,Cardiomyopathy-hypotonia-lactic acidosis syndrome,Cases/families,Case(s),,2.0,Worldwide
91130,Cardiomyopathy-hypotonia-lactic acidosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91131,DK1-CDG,Cases/families,Case(s),,17.0,Worldwide
91131,DK1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91132,Ichthyosis-hypotrichosis syndrome,Cases/families,Case(s),,11.0,Worldwide
91132,Ichthyosis-hypotrichosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90793,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Point prevalence,Value and class,1-9 / 100 000,7.0,Europe
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,7.0,Worldwide
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,6.4,France
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,9.2,Italy
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,8.7,Sweden
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,6.2,United States
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.2,New Zealand
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,6.4,Croatia
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,6.2,Estonia
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,4.5,Singapore
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,6.5,Switzerland
90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Europe
90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,Point prevalence,Value and class,1-9 / 1 000 000,0.47,Europe
90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",Cases/families,Case(s),,15.0,Worldwide
90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
90797,Partial androgen insensitivity syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
90970,Primary lipodystrophy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
91347,TSH-secreting pituitary adenoma,Point prevalence,Value and class,1-9 / 1 000 000,0.28,Sweden
91349,Non-functioning pituitary adenoma,Annual incidence,Value and class,1-9 / 100 000,1.05,Worldwide
91349,Non-functioning pituitary adenoma,Annual incidence,Value and class,1-9 / 100 000,2.55,Europe
91349,Non-functioning pituitary adenoma,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
91349,Non-functioning pituitary adenoma,Annual incidence,Value and class,1-9 / 100 000,4.0,Finland
91349,Non-functioning pituitary adenoma,Annual incidence,Value and class,1-9 / 100 000,1.1,Sweden
91349,Non-functioning pituitary adenoma,Point prevalence,Value and class,6-9 / 10 000,94.0,Belgium
91349,Non-functioning pituitary adenoma,Point prevalence,Value and class,6-9 / 10 000,80.5,Switzerland
91349,Non-functioning pituitary adenoma,Point prevalence,Value and class,6-9 / 10 000,77.6,United Kingdom
91349,Non-functioning pituitary adenoma,Point prevalence,Value and class,6-9 / 10 000,68.0,Finland
91350,Pituitary deficiency due to Rathke cleft cysts,Point prevalence,Class only,Unknown,0.0,Worldwide
91136,Acquired monoclonal Ig light chain-associated Fanconi syndrome,Cases/families,Case(s),,100.0,Worldwide
91136,Acquired monoclonal Ig light chain-associated Fanconi syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,Cases/families,Case(s),,11.0,Worldwide
91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
91138,Cryoglobulinemic vasculitis,Point prevalence,Value and class,1-9 / 100 000,1.0,United States
91138,Cryoglobulinemic vasculitis,Point prevalence,Class only,Unknown,0.0,Worldwide
91137,Immunotactoid or fibrillary glomerulopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
91140,Unspecified juvenile idiopathic arthritis,Point prevalence,Class only,Unknown,0.0,Worldwide
91139,Simple cryoglobulinemia,Point prevalence,Class only,Unknown,0.0,Worldwide
528623,Hereditary angioedema with C1Inh deficiency,Cases/families,Case(s),,51.0,Worldwide
528623,Hereditary angioedema with C1Inh deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79396,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
79397,Epidermolysis bullosa simplex with mottled pigmentation,Point prevalence,Class only,Unknown,0.0,Worldwide
79394,Congenital ichthyosiform erythroderma,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Spain
79394,Congenital ichthyosiform erythroderma,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Europe
79395,Keratoderma hereditarium mutilans with ichthyosis,Cases/families,Case(s),,50.0,Worldwide
79395,Keratoderma hereditarium mutilans with ichthyosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79373,Ectodermal dysplasia syndrome,Point prevalence,Class only,6-9 / 10 000,0.0,Worldwide
79399,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form",Point prevalence,Class only,Unknown,0.0,Worldwide
79401,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,Cases/families,Family(ies),,6.0,Worldwide
79401,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79400,Localized epidermolysis bullosa simplex,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
79403,Junctional epidermolysis bullosa with pyloric atresia,Cases/families,Case(s),,100.0,Worldwide
79403,Junctional epidermolysis bullosa with pyloric atresia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79402,Intermediate generalized junctional epidermolysis bullosa,Point prevalence,Class only,Unknown,0.0,Worldwide
79405,Junctional epidermolysis bullosa inversa,Cases/families,Case(s),,9.0,Worldwide
79405,Junctional epidermolysis bullosa inversa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79404,Severe generalized junctional epidermolysis bullosa,Prevalence at birth,Value and class,1-9 / 1 000 000,0.17,Worldwide
79404,Severe generalized junctional epidermolysis bullosa,Prevalence at birth,Value and class,<1 / 1 000 000,0.04,United States
79404,Severe generalized junctional epidermolysis bullosa,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,Netherlands
79404,Severe generalized junctional epidermolysis bullosa,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,Italy
79404,Severe generalized junctional epidermolysis bullosa,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
79406,Late-onset junctional epidermolysis bullosa,Cases/families,Case(s),,37.0,Worldwide
79406,Late-onset junctional epidermolysis bullosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79409,Recessive dystrophic epidermolysis bullosa inversa,Cases/families,Case(s),,100.0,Worldwide
79409,Recessive dystrophic epidermolysis bullosa inversa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,United States
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Prevalence at birth,Value and class,1-9 / 100 000,1.3,Europe
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Point prevalence,Value and class,1-9 / 1 000 000,0.963,Europe
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Point prevalence,Value and class,1-9 / 1 000 000,0.2222,United States
79411,Self-improving dystrophic epidermolysis bullosa,Cases/families,Case(s),,52.0,Worldwide
79411,Self-improving dystrophic epidermolysis bullosa,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79410,"Localized dystrophic epidermolysis bullosa, pretibial form",Cases/families,Family(ies),,40.0,Worldwide
79410,"Localized dystrophic epidermolysis bullosa, pretibial form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79452,Milroy disease,Point prevalence,Class only,Unknown,0.0,Worldwide
79452,Milroy disease,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Israel
79447,X-linked lethal multiple pterygium syndrome,Cases/families,Family(ies),,6.0,Worldwide
79447,X-linked lethal multiple pterygium syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79456,Diffuse cutaneous mastocytosis,Cases/families,Case(s),,30.0,Worldwide
79456,Diffuse cutaneous mastocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79457,Maculopapular cutaneous mastocytosis,Point prevalence,Class only,Unknown,0.0,Worldwide
79455,Cutaneous mastocytoma,Point prevalence,Class only,Unknown,0.0,Worldwide
79435,Oculocutaneous albinism type 4,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
79434,Oculocutaneous albinism type 1B,Point prevalence,Value and class,1-9 / 100 000,1.3,Worldwide
79433,Oculocutaneous albinism type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
79433,Oculocutaneous albinism type 3,Point prevalence,Value and class,1-5 / 10 000,11.7647,Africa
79432,Oculocutaneous albinism type 2,Point prevalence,Value and class,6-9 / 10 000,58.34,Specific population
79432,Oculocutaneous albinism type 2,Point prevalence,Value and class,1-9 / 100 000,2.55,Worldwide
79432,Oculocutaneous albinism type 2,Point prevalence,Value and class,6-9 / 10 000,71.43,"Tanzania, United Republic of"
79432,Oculocutaneous albinism type 2,Point prevalence,Value and class,1-9 / 100 000,2.78,United States
79432,Oculocutaneous albinism type 2,Point prevalence,Value and class,1-5 / 10 000,48.52,Africa
79431,Oculocutaneous albinism type 1A,Point prevalence,Value and class,1-9 / 100 000,1.3,Worldwide
79430,Hermansky-Pudlak syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Worldwide
79430,Hermansky-Pudlak syndrome,Point prevalence,Value and class,1-5 / 10 000,55.0,Puerto rico
79445,Pseudopseudohypoparathyroidism,Point prevalence,Class only,Unknown,0.0,Europe
79444,Pseudohypoparathyroidism type 1C,Point prevalence,Class only,Unknown,0.0,Europe
79443,Pseudohypoparathyroidism type 1A,Point prevalence,Class only,Unknown,0.0,Worldwide
79478,Griscelli syndrome type 3,Cases/families,Case(s),,13.0,Worldwide
79478,Griscelli syndrome type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79479,Pemphigus vegetans,Point prevalence,Value and class,1-9 / 1 000 000,0.391,Germany
79481,Pemphigus foliaceus,Point prevalence,Value and class,1-9 / 100 000,1.001,Germany
79493,Brooke-Spiegler syndrome,Cases/families,Case(s),,100.0,Worldwide
79493,Brooke-Spiegler syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79477,Griscelli syndrome type 2,Cases/families,Case(s),,102.0,Worldwide
79477,Griscelli syndrome type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79476,Griscelli syndrome type 1,Cases/families,Case(s),,20.0,Worldwide
79476,Griscelli syndrome type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.008,Europe
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.32,Europe
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.012,France
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.48,France
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.006,Finland
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Finland
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.016,Ireland
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.64,Ireland
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.006,Italy
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Netherlands
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Italy
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.006,Netherlands
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.007,Norway
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.28,Norway
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.004,Spain
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.16,Spain
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.011,Sweden
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.44,Sweden
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.026,Switzerland
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 100 000,1.04,Switzerland
79473,Variegate porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.008,United Kingdom
79473,Variegate porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.32,United Kingdom
79269,Sanfilippo syndrome type A,Point prevalence,Value and class,1-9 / 1 000 000,0.32,Europe
79269,Sanfilippo syndrome type A,Prevalence at birth,Value and class,1-9 / 100 000,1.16,Netherlands
79269,Sanfilippo syndrome type A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.88,Australia
79269,Sanfilippo syndrome type A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.47,Czech Republic
79269,Sanfilippo syndrome type A,Prevalence at birth,Value and class,1-9 / 100 000,1.62,Estonia
79269,Sanfilippo syndrome type A,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Worldwide
79269,Sanfilippo syndrome type A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.62,Sweden
79269,Sanfilippo syndrome type A,Point prevalence,Value and class,<1 / 1 000 000,0.052,United States
79269,Sanfilippo syndrome type A,Prevalence at birth,Value and class,1-9 / 1 000 000,0.19,United States
79257,GM1 gangliosidosis type 3,Cases/families,Case(s),,70.0,Worldwide
79257,GM1 gangliosidosis type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79256,GM1 gangliosidosis type 2,Cases/families,Case(s),,50.0,Worldwide
79256,GM1 gangliosidosis type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79255,GM1 gangliosidosis type 1,Cases/families,Case(s),,200.0,Worldwide
79255,GM1 gangliosidosis type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,Cases/families,Case(s),,150.0,Worldwide
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,Point prevalence,Class only,Unknown,0.0,Worldwide
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,Prevalence at birth,Value and class,1-9 / 100 000,4.1,Israel
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Specific population
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Italy
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,Point prevalence,Class only,Unknown,0.0,Worldwide
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Israel
79246,Pyruvate dehydrogenase phosphatase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79240,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Worldwide
79241,Biotinidase deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.5,United States
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.6,Brazil
79241,Biotinidase deficiency,Point prevalence,Value and class,1-9 / 100 000,1.6,Europe
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Sweden
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,3.2,Italy
79241,Biotinidase deficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Italy
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Austria
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,5.0,Hungary
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Turkey
79241,Biotinidase deficiency,Point prevalence,Value and class,<1 / 1 000 000,0.0069,China
79241,Biotinidase deficiency,Prevalence at birth,Value and class,1-5 / 10 000,11.58,Czech Republic
79238,Galactose epimerase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79239,Classic galactosemia,Annual incidence,Value and class,1-9 / 100 000,2.1,Europe
79239,Classic galactosemia,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Netherlands
79239,Classic galactosemia,Prevalence at birth,Value and class,1-9 / 100 000,2.3,United Kingdom
79239,Classic galactosemia,Prevalence at birth,Value and class,1-9 / 100 000,4.3,Ireland
79239,Classic galactosemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.13,Japan
79239,Classic galactosemia,Prevalence at birth,Value and class,1-9 / 1 000 000,0.25,China
79239,Classic galactosemia,Prevalence at birth,Value and class,1-5 / 10 000,20.8,"Iran, Islamic Republic of"
79239,Classic galactosemia,Point prevalence,Class only,Unknown,0.0,Worldwide
79244,Pyruvate dehydrogenase E2 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79242,Holocarboxylase synthetase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Europe
79242,Holocarboxylase synthetase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79243,Pyruvate dehydrogenase E1-alpha deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
79298,Diazoxide-resistant focal hyperinsulinism,Point prevalence,Class only,Unknown,0.0,Europe
79301,Congenital bile acid synthesis defect type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
79293,Familial LCAT deficiency,Cases/families,Case(s),,70.0,Worldwide
79293,Familial LCAT deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79292,Fish-eye disease,Cases/families,Case(s),,30.0,Worldwide
79292,Fish-eye disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.012,Europe
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.92,Europe
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.006,France
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.46,France
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.007,Italy
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.62,Ireland
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.018,Netherlands
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.54,Italy
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.036,Norway
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 100 000,1.39,Netherlands
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.003,Poland
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 100 000,2.77,Norway
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.003,Spain
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Poland
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.018,Sweden
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.23,Spain
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.035,Switzerland
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 100 000,1.39,Sweden
79278,Autosomal erythropoietic protoporphyria,Annual incidence,Value and class,<1 / 1 000 000,0.033,United Kingdom
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 100 000,2.7,Switzerland
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 100 000,2.54,United Kingdom
79278,Autosomal erythropoietic protoporphyria,Point prevalence,Value and class,1-9 / 100 000,1.75,Slovenia
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,Cases/families,Case(s),,10.0,Worldwide
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79280,Alpha-N-acetylgalactosaminidase deficiency type 2,Cases/families,Case(s),,10.0,Worldwide
79280,Alpha-N-acetylgalactosaminidase deficiency type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79281,Alpha-N-acetylgalactosaminidase deficiency type 3,Cases/families,Case(s),,10.0,Worldwide
79281,Alpha-N-acetylgalactosaminidase deficiency type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79282,"Methylmalonic acidemia with homocystinuria, type cblC",Cases/families,Case(s),,500.0,Worldwide
79282,"Methylmalonic acidemia with homocystinuria, type cblC",Point prevalence,Class only,Unknown,0.0,Worldwide
79283,"Methylmalonic acidemia with homocystinuria, type cblD",Cases/families,Case(s),,17.0,Worldwide
79283,"Methylmalonic acidemia with homocystinuria, type cblD",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79284,Methylmalonic acidemia with homocystinuria type cblF,Cases/families,Case(s),,15.0,Worldwide
79284,Methylmalonic acidemia with homocystinuria type cblF,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79270,Sanfilippo syndrome type B,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Europe
79270,Sanfilippo syndrome type B,Prevalence at birth,Value and class,1-9 / 1 000 000,0.42,Netherlands
79270,Sanfilippo syndrome type B,Prevalence at birth,Value and class,1-9 / 1 000 000,0.72,Portugal
79270,Sanfilippo syndrome type B,Prevalence at birth,Value and class,1-9 / 1 000 000,0.47,Australia
79270,Sanfilippo syndrome type B,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Czech Republic
79270,Sanfilippo syndrome type B,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Sweden
79270,Sanfilippo syndrome type B,Point prevalence,Value and class,<1 / 1 000 000,0.014,United States
79270,Sanfilippo syndrome type B,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,United States
79271,Sanfilippo syndrome type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.21,Netherlands
79271,Sanfilippo syndrome type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.12,Portugal
79271,Sanfilippo syndrome type C,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,Australia
79271,Sanfilippo syndrome type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.42,Czech Republic
79271,Sanfilippo syndrome type C,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
79271,Sanfilippo syndrome type C,Prevalence at birth,Value and class,1-9 / 1 000 000,0.34,Sweden
79271,Sanfilippo syndrome type C,Point prevalence,Value and class,<1 / 1 000 000,4.0E-4,United States
79271,Sanfilippo syndrome type C,Prevalence at birth,Value and class,<1 / 1 000 000,0.015,United States
79272,Sanfilippo syndrome type D,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Netherlands
79272,Sanfilippo syndrome type D,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,Australia
79273,Hereditary coproporphyria,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.013,Europe
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.54,Europe
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.012,France
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.55,France
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.011,Italy
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Italy
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.013,Finland
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.59,Finland
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.018,Netherlands
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.81,Netherlands
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.014,Norway
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.63,Norway
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.016,Poland
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.72,Poland
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.014,Spain
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.63,Spain
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.051,Sweden
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-5 / 10 000,10.0,Sweden
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.022,Switzerland
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.99,Switzerland
79276,Acute intermittent porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.016,United Kingdom
79276,Acute intermittent porphyria,Point prevalence,Value and class,1-9 / 1 000 000,0.72,United Kingdom
79277,Congenital erythropoietic porphyria,Cases/families,Case(s),,200.0,Worldwide
79277,Congenital erythropoietic porphyria,Annual incidence,Value and class,<1 / 1 000 000,0.065,Europe
79277,Congenital erythropoietic porphyria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79333,COG7-CDG,Cases/families,Case(s),,8.0,Worldwide
79333,COG7-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79332,B4GALT1-CDG,Cases/families,Case(s),,1.0,Worldwide
79332,B4GALT1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79330,MOGS-CDG,Cases/families,Case(s),,3.0,Worldwide
79330,MOGS-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79329,MGAT2-CDG,Cases/families,Case(s),,13.0,Worldwide
79329,MGAT2-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79328,ALG9-CDG,Cases/families,Case(s),,12.0,Worldwide
79328,ALG9-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79327,ALG1-CDG,Cases/families,Case(s),,57.0,Worldwide
79327,ALG1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79326,ALG2-CDG,Cases/families,Case(s),,1.0,Worldwide
79326,ALG2-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79325,ALG8-CDG,Cases/families,Case(s),,15.0,Worldwide
79325,ALG8-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79324,ALG12-CDG,Cases/families,Case(s),,11.0,Worldwide
79324,ALG12-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79323,MPDU1-CDG,Cases/families,Case(s),,8.0,Worldwide
79323,MPDU1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79322,DPM1-CDG,Cases/families,Case(s),,9.0,Worldwide
79322,DPM1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79321,ALG3-CDG,Cases/families,Case(s),,15.0,Worldwide
79321,ALG3-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79320,ALG6-CDG,Cases/families,Case(s),,54.0,Worldwide
79320,ALG6-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79319,MPI-CDG,Cases/families,Case(s),,25.0,Worldwide
79319,MPI-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79318,PMM2-CDG,Prevalence at birth,Value and class,1-9 / 100 000,1.73,Italy
79318,PMM2-CDG,Point prevalence,Class only,Unknown,0.0,Worldwide
79318,PMM2-CDG,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
79314,L-2-hydroxyglutaric aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79314,L-2-hydroxyglutaric aciduria,Cases/families,Case(s),,140.0,Worldwide
79315,D-2-hydroxyglutaric aciduria,Cases/families,Case(s),,80.0,Worldwide
79315,D-2-hydroxyglutaric aciduria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79312,Vitamin B12-unresponsive methylmalonic acidemia type mut-,Cases/families,Case(s),,450.0,Worldwide
79312,Vitamin B12-unresponsive methylmalonic acidemia type mut-,Point prevalence,Class only,Unknown,0.0,Worldwide
79310,Vitamin B12-responsive methylmalonic acidemia type cblA,Cases/families,Case(s),,60.0,Worldwide
79310,Vitamin B12-responsive methylmalonic acidemia type cblA,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79306,Progressive familial intrahepatic cholestasis type 1,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
79304,Progressive familial intrahepatic cholestasis type 2,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
79305,Progressive familial intrahepatic cholestasis type 3,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
79302,Congenital bile acid synthesis defect type 3,Cases/families,Case(s),,2.0,Worldwide
79302,Congenital bile acid synthesis defect type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79303,Congenital bile acid synthesis defect type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
79361,Inherited epidermolysis bullosa,Prevalence at birth,Value and class,1-9 / 100 000,1.9,Europe
79361,Inherited epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Europe
79361,Inherited epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.96,Croatia
79361,Inherited epidermolysis bullosa,Prevalence at birth,Value and class,1-9 / 100 000,1.9,United States
79361,Inherited epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.8,United States
79361,Inherited epidermolysis bullosa,Point prevalence,Value and class,1-9 / 1 000 000,0.59,China
79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",Cases/families,Case(s),,15.0,Worldwide
79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",Cases/families,Case(s),,8.0,Worldwide
79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79346,"Chondrodysplasia punctata, tibial-metacarpal type",Cases/families,Case(s),,12.0,Worldwide
79346,"Chondrodysplasia punctata, tibial-metacarpal type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79347,"Chondrodysplasia punctata, Toriello type",Cases/families,Case(s),,3.0,Worldwide
79347,"Chondrodysplasia punctata, Toriello type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79345,Brachytelephalangic chondrodysplasia punctata,Point prevalence,Class only,Unknown,0.0,Worldwide
85191,Singleton-Merten dysplasia,Cases/families,Case(s),,22.0,Worldwide
85191,Singleton-Merten dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85188,"Metaphyseal dysplasia, Braun-Tinschert type",Point prevalence,Class only,Unknown,0.0,Worldwide
85193,Idiopathic juvenile osteoporosis,Point prevalence,Class only,Unknown,0.0,Worldwide
85192,Calvarial doughnut lesions-bone fragility syndrome,Cases/families,Case(s),,20.0,Worldwide
85192,Calvarial doughnut lesions-bone fragility syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85194,Spondylo-ocular syndrome,Cases/families,Case(s),,7.0,Worldwide
85194,Spondylo-ocular syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85197,Genochondromatosis type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
85199,Craniosynostosis-anal anomalies-porokeratosis syndrome,Cases/families,Case(s),,9.0,Worldwide
85199,Craniosynostosis-anal anomalies-porokeratosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85198,Dysspondyloenchondromatosis,Cases/families,Case(s),,16.0,Worldwide
85198,Dysspondyloenchondromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
85198,Dysspondyloenchondromatosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85201,Genitopatellar syndrome,Cases/families,Case(s),,22.0,Worldwide
85201,Genitopatellar syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85203,Acropectoral syndrome,Cases/families,Case(s),,25.0,Worldwide
85203,Acropectoral syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85202,Keutel syndrome,Cases/families,Case(s),,30.0,Worldwide
85202,Keutel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85273,"X-linked intellectual disability, Abidi type",Cases/families,Case(s),,8.0,Worldwide
85273,"X-linked intellectual disability, Abidi type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85212,Fetal Gaucher disease,Cases/families,Case(s),,50.0,Worldwide
85212,Fetal Gaucher disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85274,Syndromic X-linked intellectual disability 7,Cases/families,Case(s),,10.0,Worldwide
85274,Syndromic X-linked intellectual disability 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85275,Microphthalmia-ankyloblepharon-intellectual disability syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
85276,"X-linked intellectual disability, Armfield type",Cases/families,Case(s),,6.0,Worldwide
85276,"X-linked intellectual disability, Armfield type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85277,"X-linked intellectual disability, Cantagrel type",Cases/families,Case(s),,30.0,Worldwide
85277,"X-linked intellectual disability, Cantagrel type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85278,Christianson syndrome,Point prevalence,Class only,1-9 / 100 000,1.7241,Worldwide
85279,KDM5C-related syndromic X-linked intellectual disability,Cases/families,Family(ies),,10.0,Worldwide
85279,KDM5C-related syndromic X-linked intellectual disability,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85280,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,Cases/families,Case(s),,5.0,Worldwide
85280,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85282,MEHMO syndrome,Cases/families,Case(s),,22.0,Worldwide
85282,MEHMO syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85284,BRESEK syndrome,Cases/families,Case(s),,5.0,Worldwide
85284,BRESEK syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85285,"X-linked intellectual disability, Schimke type",Cases/families,Case(s),,4.0,Worldwide
85285,"X-linked intellectual disability, Schimke type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85286,"X-linked intellectual disability, Shashi type",Cases/families,Case(s),,9.0,Worldwide
85286,"X-linked intellectual disability, Shashi type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85287,"X-linked intellectual disability, Siderius type",Cases/families,Family(ies),,2.0,Worldwide
85287,"X-linked intellectual disability, Siderius type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85288,"X-linked intellectual disability, Stocco Dos Santos type",Cases/families,Family(ies),,1.0,Worldwide
85288,"X-linked intellectual disability, Stocco Dos Santos type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85293,"X-linked intellectual disability, Cabezas type",Cases/families,Family(ies),,24.0,Worldwide
85293,"X-linked intellectual disability, Cabezas type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85292,X-linked spinocerebellar ataxia type 4,Cases/families,Family(ies),,1.0,Worldwide
85292,X-linked spinocerebellar ataxia type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85290,"X-linked intellectual disability, Wilson type",Cases/families,Case(s),,3.0,Worldwide
85290,"X-linked intellectual disability, Wilson type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85317,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,Cases/families,Case(s),,3.0,Worldwide
85317,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85297,X-linked spinocerebellar ataxia type 3,Cases/families,Case(s),,5.0,Worldwide
85297,X-linked spinocerebellar ataxia type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85295,"HSD10 disease, atypical type",Cases/families,Case(s),,5.0,Worldwide
85295,"HSD10 disease, atypical type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85294,X-linked epilepsy-learning disabilities-behavior disorders syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
85321,"Deafness-intellectual disability syndrome, Martin-Probst type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85321,"Deafness-intellectual disability syndrome, Martin-Probst type",Cases/families,Case(s),,3.0,Worldwide
85320,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85320,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,Cases/families,Case(s),,12.0,Worldwide
85319,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,Cases/families,Case(s),,2.0,Worldwide
85319,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85325,"X-linked intellectual disability, Stevenson type",Cases/families,Case(s),,4.0,Worldwide
85325,"X-linked intellectual disability, Stevenson type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85324,"X-linked intellectual disability, Shrimpton type",Cases/families,Case(s),,3.0,Worldwide
85324,"X-linked intellectual disability, Shrimpton type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85323,"X-linked intellectual disability, Seemanova type",Cases/families,Case(s),,4.0,Worldwide
85323,"X-linked intellectual disability, Seemanova type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85322,"X-linked intellectual disability, Pai type",Cases/families,Family(ies),,1.0,Worldwide
85322,"X-linked intellectual disability, Pai type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85329,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,Cases/families,Case(s),,10.0,Worldwide
85329,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85326,"X-linked intellectual disability, Stoll type",Cases/families,Case(s),,4.0,Worldwide
85326,"X-linked intellectual disability, Stoll type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85327,X-linked intellectual disability-acromegaly-hyperactivity syndrome,Cases/families,Case(s),,2.0,Worldwide
85327,X-linked intellectual disability-acromegaly-hyperactivity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85332,X-linked intellectual disability-retinitis pigmentosa syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
85336,"X-linked neurodegenerative syndrome, Hamel type",Cases/families,Case(s),,11.0,Worldwide
85336,"X-linked neurodegenerative syndrome, Hamel type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85334,"X-linked neurodegenerative syndrome, Bertini type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85334,"X-linked neurodegenerative syndrome, Bertini type",Cases/families,Case(s),,7.0,Worldwide
85335,Fried syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85335,Fried syndrome,Cases/families,Family(ies),,1.0,Worldwide
85410,Oligoarticular juvenile idiopathic arthritis,Point prevalence,Value and class,1-5 / 10 000,20.5,Europe
85414,Systemic-onset juvenile idiopathic arthritis,Point prevalence,Value and class,1-9 / 100 000,3.1,Worldwide
85414,Systemic-onset juvenile idiopathic arthritis,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Worldwide
85338,X-linked intellectual disability-ataxia-apraxia syndrome,Cases/families,Case(s),,9.0,Worldwide
85338,X-linked intellectual disability-ataxia-apraxia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,Point prevalence,Value and class,1-9 / 100 000,8.0,Europe
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,6.459,Germany
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.127,Worldwide
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.044,Worldwide
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.5311,Europe
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.1177,Europe
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.77,Austria
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.166,Austria
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,5.54,Belgium
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.122,Belgium
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.892,Bulgaria
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.174,Bulgaria
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.801,Croatia
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.156,Croatia
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.299,Cyprus
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.894,Cyprus
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.462,Czech Republic
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.109,Czech Republic
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.568,Denmark
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.124,Denmark
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.51,Estonia
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.107,Estonia
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.885,Finland
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.187,Finland
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.692,France
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.152,France
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.294,Germany
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,6.219,Greece
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.254,Greece
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.418,Hungary
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.088,Hungary
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.643,Iceland
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.948,Iceland
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.448,Ireland
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.913,Ireland
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,6.538,Italy
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.329,Italy
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.71,Latvia
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.123,Latvia
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.809,Liechtenstein
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.174,Liechtenstein
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.61,Lithuania
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.109,Lithuania
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.653,Luxembourg
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.968,Luxembourg
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.641,Malta
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.147,Malta
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.672,Netherlands
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.146,Netherlands
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.977,Norway
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.018,Norway
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.134,Poland
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.044,Poland
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,6.216,Portugal
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.25,Portugal
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.537,Romania
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.107,Romania
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.76,Slovakia
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.968,Slovakia
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.756,Slovenia
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.167,Slovenia
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.864,Spain
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.193,Spain
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.667,Sweden
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.141,Sweden
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.316,United Kingdom
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.078,United Kingdom
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,3.222,Brazil
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.672,Brazil
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,5.215,Canada
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.076,Canada
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,7.108,Japan
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.43,Japan
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.569,Russian Federation
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.93,Russian Federation
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.822,"Korea, Republic of"
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.997,"Korea, Republic of"
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.852,"Taiwan, Province of China"
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 100 000,1.001,"Taiwan, Province of China"
85443,AL amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.842,United States
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.991,United States
85443,AL amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,6.0,Argentina
85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,Cases/families,Family(ies),,5.0,Worldwide
85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85446,Wild type ABeta2M amyloidosis,Point prevalence,Value and class,1-9 / 100 000,4.5,Europe
85445,AA amyloidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
85436,Psoriasis-related juvenile idiopathic arthritis,Point prevalence,Class only,Unknown,0.0,Worldwide
85435,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,Point prevalence,Value and class,1-9 / 100 000,4.2,Europe
85438,Enthesitis-related juvenile idiopathic arthritis,Point prevalence,Value and class,1-9 / 100 000,5.7,Europe
85458,Hereditary cerebral amyloid angiopathy,Cases/families,Case(s),,350.0,Worldwide
85458,Hereditary cerebral amyloid angiopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85453,X-linked reticulate pigmentary disorder,Cases/families,Family(ies),,6.0,Worldwide
85453,X-linked reticulate pigmentary disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86788,X-linked severe congenital neutropenia,Cases/families,Case(s),,45.0,Worldwide
86788,X-linked severe congenital neutropenia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86309,DPAGT1-CDG,Cases/families,Case(s),,18.0,Worldwide
86309,DPAGT1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85448,AGel amyloidosis,Cases/families,Case(s),,475.0,Worldwide
85448,AGel amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85447,ATTRV30M amyloidosis,Point prevalence,Value and class,6-9 / 10 000,90.0,Portugal
85447,ATTRV30M amyloidosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Japan
85447,ATTRV30M amyloidosis,Annual incidence,Value and class,1-9 / 100 000,3.75,Sweden
85447,ATTRV30M amyloidosis,Point prevalence,Value and class,6-9 / 10 000,97.5,Sweden
85447,ATTRV30M amyloidosis,Annual incidence,Value and class,1-9 / 1 000 000,0.69,Cyprus
85447,ATTRV30M amyloidosis,Point prevalence,Value and class,1-9 / 100 000,3.7,Cyprus
85447,ATTRV30M amyloidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
85447,ATTRV30M amyloidosis,Point prevalence,Value and class,1-9 / 100 000,3.0,Spain
85451,ATTRV122I amyloidosis,Point prevalence,Class only,Unknown,0.0,Worldwide
85450,Hereditary amyloidosis with primary renal involvement,Point prevalence,Class only,Unknown,0.0,Worldwide
86812,POMT1-related limb-girdle muscular dystrophy R11,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
86813,Helicoid peripapillary chorioretinal degeneration,Cases/families,Case(s),,100.0,Worldwide
86813,Helicoid peripapillary chorioretinal degeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86814,Familial adult myoclonic epilepsy,Point prevalence,Value and class,1-9 / 100 000,2.8,Japan
86814,Familial adult myoclonic epilepsy,Point prevalence,Class only,Unknown,0.0,Worldwide
86789,Isolated patella aplasia/hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86789,Isolated patella aplasia/hypoplasia,Cases/families,Family(ies),,5.0,Worldwide
86797,Atypical lichen myxedematosus,Cases/families,Case(s),,20.0,Worldwide
86797,Atypical lichen myxedematosus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86820,Familial avascular necrosis of femoral head,Annual incidence,Value and class,1-9 / 100 000,5.0,United States
86820,Familial avascular necrosis of femoral head,Point prevalence,Class only,Unknown,0.0,Worldwide
86821,Lissencephaly type 3-familial fetal akinesia sequence syndrome,Cases/families,Case(s),,5.0,Worldwide
86821,Lissencephaly type 3-familial fetal akinesia sequence syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86822,Lissencephaly type 3-metacarpal bone dysplasia syndrome,Cases/families,Case(s),,2.0,Worldwide
86822,Lissencephaly type 3-metacarpal bone dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86823,Lissencephaly with cerebellar hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
86816,Congenital analbuminemia,Cases/families,Case(s),,50.0,Worldwide
86816,Congenital analbuminemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86817,Hemolytic anemia due to adenylate kinase deficiency,Cases/families,Family(ies),,7.0,Worldwide
86817,Hemolytic anemia due to adenylate kinase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,Cases/families,Family(ies),,2.0,Worldwide
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
512034,Large granular lymphocyte leukemia,Annual incidence,Value and class,<1 / 1 000 000,0.02,United States
86843,Acute panmyelosis with myelofibrosis,Annual incidence,Value and class,<1 / 1 000 000,0.06,Europe
86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
86839,Myelodysplastic neoplasm with increased blasts,Point prevalence,Class only,Unknown,0.0,Worldwide
86839,Myelodysplastic neoplasm with increased blasts,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Europe
86836,Refractory cytopenia with multilineage dysplasia,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
86834,Juvenile myelomonocytic leukemia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
86830,"Chronic myeloproliferative disease, unclassifiable",Annual incidence,Value and class,1-9 / 1 000 000,0.53,Europe
86829,Chronic neutrophilic leukemia,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
86855,Plasmacytoma,Point prevalence,Class only,Unknown,0.0,Worldwide
86855,Plasmacytoma,Annual incidence,Value and class,1-9 / 1 000 000,0.34,United States
512260,Congenital cerebellar ataxia due to RNU12 mutation,Cases/families,Case(s),,6.0,Worldwide
512260,Congenital cerebellar ataxia due to RNU12 mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
86854,Splenic marginal zone lymphoma,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
86852,B-cell prolymphocytic leukemia,Annual incidence,Value and class,<1 / 1 000 000,0.05,Europe
86850,Myeloid sarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
86850,Myeloid sarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
86849,Acute basophilic leukemia,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
86846,Therapy related acute myeloid leukemia and myelodysplastic syndrome,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
86845,Acute myeloid leukaemia with myelodysplasia-related features,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
86872,T-cell large granular lymphocyte leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Europe
86872,T-cell large granular lymphocyte leukemia,Point prevalence,Class only,Unknown,0.0,Worldwide
86873,Aggressive NK-cell leukemia,Point prevalence,Class only,Unknown,0.0,Europe
86870,Blastic plasmacytoid dendritic cell neoplasm,Point prevalence,Value and class,1-5 / 10 000,12.0,Europe
86870,Blastic plasmacytoid dendritic cell neoplasm,Annual incidence,Value and class,<1 / 1 000 000,0.03,United States
86871,T-cell prolymphocytic leukemia,Annual incidence,Class only,Unknown,0.0,Worldwide
86871,T-cell prolymphocytic leukemia,Point prevalence,Class only,Unknown,0.0,Worldwide
86867,Nodal marginal zone B-cell lymphoma,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
86869,Lymphomatoid granulomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
86864,Heavy chain disease,Point prevalence,Class only,Unknown,0.0,Worldwide
86864,Heavy chain disease,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
86886,Angioimmunoblastic T-cell lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.05,United States
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Worldwide
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.095,Europe
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.041,Austria
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.006,Bulgaria
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.099,Czech Republic
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.037,Estonia
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.097,Germany
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.074,Ireland
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.038,Latvia
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.008,Lithuania
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.013,Poland
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.055,Portugal
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.053,Slovakia
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.056,Slovenia
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.092,United Kingdom
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.128,Belgium
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.285,Finland
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.124,Italy
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.226,Norway
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Spain
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.135,Switzerland
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.133,Netherlands
86884,Subcutaneous panniculitis-like T-cell lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
86880,Enteropathy-associated T-cell lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.0111,United States
86880,Enteropathy-associated T-cell lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Netherlands
86882,Hepatosplenic T-cell lymphoma,Annual incidence,Value and class,<1 / 1 000 000,0.03,United States
86882,Hepatosplenic T-cell lymphoma,Point prevalence,Class only,Unknown,0.0,Worldwide
86875,Adult T-cell leukemia/lymphoma,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
86879,Extranodal nasal NK/T cell lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.25,France
79502,Punctate palmoplantar keratoderma type 2,Cases/families,Case(s),,13.0,Worldwide
79502,Punctate palmoplantar keratoderma type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79503,Ichthyosis hystrix of Curth-Macklin,Cases/families,Case(s),,10.0,Worldwide
79503,Ichthyosis hystrix of Curth-Macklin,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79507,Hypotonia-failure to thrive-microcephaly syndrome,Cases/families,Case(s),,2.0,Worldwide
79507,Hypotonia-failure to thrive-microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79499,Autosomal dominant deafness-onychodystrophy syndrome,Cases/families,Case(s),,22.0,Worldwide
79499,Autosomal dominant deafness-onychodystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79500,DOORS syndrome,Cases/families,Case(s),,50.0,Worldwide
79500,DOORS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
79501,Punctate palmoplantar keratoderma type 1,Cases/families,Case(s),,437.0,Worldwide
79501,Punctate palmoplantar keratoderma type 1,Point prevalence,Value and class,1-9 / 100 000,1.17,Croatia
79501,Punctate palmoplantar keratoderma type 1,Point prevalence,Value and class,1-9 / 100 000,3.3,Slovenia
79501,Punctate palmoplantar keratoderma type 1,Point prevalence,Value and class,1-9 / 100 000,2.22,Europe
79651,Mild hyperphenylalaninemia,Point prevalence,Class only,Unknown,0.0,Worldwide
79644,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,Point prevalence,Class only,Unknown,0.0,Europe
83317,Scrub typhus,Point prevalence,Value and class,1-9 / 100 000,7.2,"Korea, Republic of"
83317,Scrub typhus,Point prevalence,Value and class,1-9 / 1 000 000,0.3,Japan
83317,Scrub typhus,Point prevalence,Class only,Unknown,0.0,Worldwide
83330,Proximal spinal muscular atrophy type 1,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Europe
83330,Proximal spinal muscular atrophy type 1,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
83315,Murine typhus,Point prevalence,Class only,Unknown,0.0,Worldwide
83316,Pseudotyphus of California,Point prevalence,Class only,Unknown,0.0,Worldwide
83419,Proximal spinal muscular atrophy type 3,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6623,Italy
83419,Proximal spinal muscular atrophy type 3,Point prevalence,Class only,1-9 / 1 000 000,0.61,Europe
83420,Proximal spinal muscular atrophy type 4,Annual incidence,Class only,Unknown,0.0,Europe
83420,Proximal spinal muscular atrophy type 4,Point prevalence,Class only,Unknown,0.0,Europe
83418,Proximal spinal muscular atrophy type 2,Prevalence at birth,Value and class,1-9 / 100 000,2.0,Europe
83418,Proximal spinal muscular atrophy type 2,Point prevalence,Class only,1-9 / 100 000,2.0322,Worldwide
83313,Boutonneuse fever,Point prevalence,Value and class,1-5 / 10 000,24.2,France
83313,Boutonneuse fever,Point prevalence,Value and class,1-9 / 100 000,9.8,Portugal
83313,Boutonneuse fever,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
83314,Epidemic typhus,Point prevalence,Class only,Unknown,0.0,Worldwide
83311,Rocky Mountain spotted fever,Annual incidence,Value and class,1-9 / 1 000 000,0.24,United States
83311,Rocky Mountain spotted fever,Point prevalence,Class only,Unknown,0.0,Worldwide
83312,Rickettsialpox,Cases/families,Case(s),,800.0,Worldwide
83312,Rickettsialpox,Point prevalence,Class only,Unknown,0.0,Worldwide
83469,Desmoplastic small round cell tumor,Cases/families,Case(s),,300.0,Worldwide
83469,Desmoplastic small round cell tumor,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
83469,Desmoplastic small round cell tumor,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83468,Solitary bone cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
83467,Morvan syndrome,Cases/families,Case(s),,60.0,Worldwide
83467,Morvan syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83465,Narcolepsy type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
83465,Narcolepsy type 2,Point prevalence,Value and class,1-5 / 10 000,20.3,United States
83476,West-Nile encephalitis,Point prevalence,Value and class,1-9 / 1 000 000,0.92,United States
83476,West-Nile encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
83476,West-Nile encephalitis,Annual incidence,Value and class,<1 / 1 000 000,0.036,Europe
83476,West-Nile encephalitis,Annual incidence,Value and class,<1 / 1 000 000,0.02,Austria
83476,West-Nile encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.17,Croatia
83476,West-Nile encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.66,Greece
83476,West-Nile encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.16,Hungary
83476,West-Nile encephalitis,Annual incidence,Value and class,<1 / 1 000 000,0.07,Italy
83476,West-Nile encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Romania
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,Cases/families,Case(s),,62.0,Worldwide
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83472,CAMOS syndrome,Cases/families,Case(s),,5.0,Worldwide
83472,CAMOS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83471,T-cell immunodeficiency with thymic aplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
83452,Complex regional pain syndrome,Annual incidence,Value and class,1-5 / 10 000,26.2,Netherlands
83452,Complex regional pain syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
83451,Florid cemento-osseous dysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
83450,Regional odontodysplasia,Cases/families,Case(s),,140.0,Worldwide
83450,Regional odontodysplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
83463,Microtia,Point prevalence,Value and class,1-5 / 10 000,38.0,Specific population
83463,Microtia,Prevalence at birth,Value and class,1-5 / 10 000,13.0,Europe
83463,Microtia,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
83463,Microtia,Prevalence at birth,Value and class,1-5 / 10 000,15.5,Worldwide
83463,Microtia,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
83463,Microtia,Prevalence at birth,Value and class,1-9 / 100 000,3.7,France
83463,Microtia,Point prevalence,Class only,1-9 / 100 000,0.0,France
83463,Microtia,Prevalence at birth,Value and class,1-9 / 100 000,1.2,Italy
83463,Microtia,Point prevalence,Class only,1-9 / 100 000,0.0,Italy
83463,Microtia,Prevalence at birth,Value and class,1-9 / 100 000,2.1,Sweden
83463,Microtia,Point prevalence,Class only,1-9 / 100 000,0.0,Sweden
83463,Microtia,Prevalence at birth,Value and class,1-5 / 10 000,22.0,United States
83463,Microtia,Point prevalence,Class only,1-5 / 10 000,0.0,United States
83463,Microtia,Prevalence at birth,Value and class,1-5 / 10 000,43.4,Finland
83463,Microtia,Point prevalence,Class only,1-5 / 10 000,0.0,Finland
83463,Microtia,Prevalence at birth,Value and class,>1 / 1000,174.0,Ecuador
83463,Microtia,Prevalence at birth,Value and class,6-9 / 10 000,83.0,Chile
83461,Congenital primary aphakia,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
83454,Glomuvenous malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
83453,Vulvovaginal gingival syndrome,Cases/families,Case(s),,380.0,Worldwide
83453,Vulvovaginal gingival syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
514352,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,Cases/families,Case(s),,8.0,Worldwide
514352,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83619,Macrostomia-preauricular tags-external ophthalmoplegia syndrome,Cases/families,Case(s),,9.0,Worldwide
83619,Macrostomia-preauricular tags-external ophthalmoplegia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83620,Enteric anendocrinosis,Cases/families,Case(s),,7.0,Worldwide
83620,Enteric anendocrinosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83628,LUMBAR syndrome,Cases/families,Case(s),,54.0,Worldwide
83628,LUMBAR syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83601,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
83616,Rubella panencephalitis,Cases/families,Case(s),,20.0,Worldwide
83616,Rubella panencephalitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83617,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,Cases/families,Case(s),,3.0,Worldwide
83617,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83594,Eastern equine encephalitis,Annual incidence,Value and class,<1 / 1 000 000,0.01,United States
83594,Eastern equine encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
83595,Colorado tick fever,Point prevalence,Class only,Unknown,0.0,Worldwide
83597,Acute disseminated encephalomyelitis,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Europe
83597,Acute disseminated encephalomyelitis,Point prevalence,Class only,Unknown,0.0,Worldwide
83600,Encephalitis lethargica,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
83482,Mycoplasma encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
83483,La Crosse encephalitis,Annual incidence,Value and class,1-9 / 100 000,1.91,Canada
83483,La Crosse encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
83484,St. Louis encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.38,Europe
83484,St. Louis encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
83593,Western equine encephalitis,Annual incidence,Value and class,<1 / 1 000 000,0.02,United States
83593,Western equine encephalitis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
84085,Hinman syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
84081,Senior-Boichis syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
84090,Fibronectin glomerulopathy,Cases/families,Family(ies),,16.0,Worldwide
84090,Fibronectin glomerulopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
84064,Trichohepatoenteric syndrome,Cases/families,Case(s),,116.0,Worldwide
84064,Trichohepatoenteric syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
84064,Trichohepatoenteric syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.1,France
513436,Autosomal recessive spastic paraplegia type 78,Cases/families,Case(s),,7.0,Worldwide
513436,Autosomal recessive spastic paraplegia type 78,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,Cases/families,Family(ies),,2.0,Worldwide
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83629,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,Cases/families,Case(s),,11.0,Worldwide
83629,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Cases/families,Case(s),,15.0,Worldwide
513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
83642,Microcytic anemia with liver iron overload,Cases/families,Case(s),,3.0,Worldwide
83642,Microcytic anemia with liver iron overload,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85163,Hypomyelination-congenital cataract syndrome,Cases/families,Case(s),,10.0,Worldwide
85163,Hypomyelination-congenital cataract syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,Cases/families,Case(s),,30.0,Worldwide
85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",Cases/families,Case(s),,15.0,Worldwide
85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85162,Facial onset sensory and motor neuronopathy,Cases/families,Case(s),,47.0,Worldwide
85162,Facial onset sensory and motor neuronopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85138,Addison disease,Annual incidence,Value and class,1-5 / 10 000,54.0,Specific population
85138,Addison disease,Point prevalence,Value and class,1-5 / 10 000,12.5,Europe
85138,Addison disease,Point prevalence,Value and class,1-5 / 10 000,14.0,Norway
85138,Addison disease,Point prevalence,Value and class,1-9 / 100 000,9.3,United Kingdom
85128,Bothnia retinal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
85136,Cystic leukoencephalopathy without megalencephaly,Cases/families,Case(s),,50.0,Worldwide
85136,Cystic leukoencephalopathy without megalencephaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85110,Familial encephalopathy with neuroserpin inclusion bodies,Cases/families,Family(ies),,6.0,Worldwide
85110,Familial encephalopathy with neuroserpin inclusion bodies,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,Cases/families,Case(s),,5.0,Worldwide
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
84132,Desmin-related myopathy with Mallory body-like inclusions,Cases/families,Case(s),,5.0,Worldwide
84132,Desmin-related myopathy with Mallory body-like inclusions,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
84142,Isaacs syndrome,Cases/families,Case(s),,150.0,Worldwide
84142,Isaacs syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
84093,Hereditary thermosensitive neuropathy,Cases/families,Family(ies),,1.0,Worldwide
84093,Hereditary thermosensitive neuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,Cases/families,Case(s),,4.0,Worldwide
85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85184,"Craniometadiaphyseal dysplasia, wormian bone type",Cases/families,Case(s),,4.0,Worldwide
85184,"Craniometadiaphyseal dysplasia, wormian bone type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85179,Infantile osteopetrosis with neuroaxonal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
85175,Astley-Kendall dysplasia,Cases/families,Case(s),,5.0,Worldwide
85175,Astley-Kendall dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85174,Pseudodiastrophic dysplasia,Cases/families,Case(s),,13.0,Worldwide
85174,Pseudodiastrophic dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85173,IMAGe syndrome,Cases/families,Case(s),,28.0,Worldwide
85173,IMAGe syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",Cases/families,Case(s),,4.0,Worldwide
85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85170,"Mesomelic dysplasia, Savarirayan type",Point prevalence,Class only,Unknown,0.0,Worldwide
85169,Familial digital arthropathy-brachydactyly,Point prevalence,Class only,Unknown,0.0,Worldwide
85168,Craniofacial conodysplasia,Cases/families,Family(ies),,1.0,Worldwide
85168,Craniofacial conodysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,Cases/families,Case(s),,18.0,Worldwide
85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
85166,"Platyspondylic dysplasia, Torrance type",Point prevalence,Class only,Unknown,0.0,Worldwide
85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Cases/families,Case(s),,5.0,Worldwide
85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
603448,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,Cases/families,Case(s),,10.0,Worldwide
603448,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
603515,Isolated female hypospadias,Point prevalence,Class only,Unknown,0.0,Worldwide
603494,Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,Cases/families,Case(s),,2.0,Worldwide
603494,Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
603689,KLHL7-related Bohring-Opitz-like syndrome,Cases/families,Case(s),,12.0,Worldwide
603689,KLHL7-related Bohring-Opitz-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
603684,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,Cases/families,Case(s),,3.0,Worldwide
603684,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
610573,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,Cases/families,Case(s),,3.0,Worldwide
610573,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
610569,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,Cases/families,Case(s),,13.0,Worldwide
610569,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
604680,Symptomatic form of X-linked centronuclear myopathy in female carriers,Cases/families,Case(s),,100.0,Worldwide
604680,Symptomatic form of X-linked centronuclear myopathy in female carriers,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
611256,Pontocerebellar hypoplasia type 12,Cases/families,Case(s),,4.0,Worldwide
611256,Pontocerebellar hypoplasia type 12,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
611237,Parkinsonism with polyneuropathy,Cases/families,Case(s),,4.0,Worldwide
611237,Parkinsonism with polyneuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
611247,Pontocerebellar hypoplasia type 11,Cases/families,Case(s),,13.0,Worldwide
611247,Pontocerebellar hypoplasia type 11,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
611216,Aplastic anemia-intellectual disability-dwarfism syndrome,Cases/families,Case(s),,10.0,Worldwide
611216,Aplastic anemia-intellectual disability-dwarfism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
611223,EN1-related dorsoventral syndrome,Cases/families,Case(s),,4.0,Worldwide
611223,EN1-related dorsoventral syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
611201,Oculogastrointestinal-neurodevelopmental syndrome,Cases/families,Case(s),,7.0,Worldwide
611201,Oculogastrointestinal-neurodevelopmental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
613267,Pontocerebellar hypoplasia type 13,Cases/families,Case(s),,3.0,Worldwide
613267,Pontocerebellar hypoplasia type 13,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98085,"46,XY difference of sex development",Annual incidence,Value and class,<1 / 1 000 000,0.06,Denmark
98085,"46,XY difference of sex development",Prevalence at birth,Value and class,1-9 / 100 000,6.4,Denmark
613274,Pontocerebellar hypoplasia type 14,Cases/families,Case(s),,18.0,Worldwide
613274,Pontocerebellar hypoplasia type 14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98249,Ehlers-Danlos syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.9,Europe
98249,Ehlers-Danlos syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
600668,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,Cases/families,Case(s),,4.0,Worldwide
600668,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
600663,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,Cases/families,Case(s),,11.0,Worldwide
600663,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
600691,Combined deficiency of factor VII and factor X,Cases/families,Case(s),,7.0,Worldwide
600691,Combined deficiency of factor VII and factor X,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
600731,Clark-Baraitser syndrome,Cases/families,Case(s),,8.0,Worldwide
600731,Clark-Baraitser syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98287,Histiocytic and dendritic cell tumor,Annual incidence,Value and class,<1 / 1 000 000,0.05,Europe
98293,Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.4,Europe
98293,Hodgkin lymphoma,Lifetime Prevalence,Value and class,1-5 / 10 000,46.9,Europe
98293,Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 100 000,2.8,United States
98293,Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Japan
98293,Hodgkin lymphoma,Annual incidence,Value and class,1-9 / 1 000 000,0.25,China
98292,Mastocytosis,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
98292,Mastocytosis,Point prevalence,Value and class,1-9 / 100 000,9.59,Denmark
98292,Mastocytosis,Point prevalence,Value and class,1-5 / 10 000,10.0,Worldwide
98274,Myeloproliferative neoplasm,Annual incidence,Value and class,1-9 / 100 000,3.07,Europe
98277,Acute myeloid leukemia with recurrent genetic anomaly,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Europe
98275,Myelodysplastic/myeloproliferative disease,Annual incidence,Value and class,1-9 / 1 000 000,0.29,Europe
98267,Genetic non-syndromic obesity,Point prevalence,Class only,Unknown,0.0,Worldwide
98267,Genetic non-syndromic obesity,Annual incidence,Class only,Unknown,0.0,Worldwide
601028,Non-syndromic rectovaginal fistula,Prevalence at birth,Class only,Unknown,0.0,Worldwide
601028,Non-syndromic rectovaginal fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
601033,Non-syndromic H-type fistula,Prevalence at birth,Class only,Unknown,0.0,Worldwide
601033,Non-syndromic H-type fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
601008,Non-syndromic anal stenosis,Prevalence at birth,Class only,Unknown,0.0,Worldwide
601008,Non-syndromic anal stenosis,Point prevalence,Class only,Unknown,0.0,Worldwide
601013,Non-syndromic pouch colon,Prevalence at birth,Class only,Unknown,0.0,Worldwide
601013,Non-syndromic pouch colon,Point prevalence,Class only,Unknown,0.0,Worldwide
601018,Non-syndromic rectal atresia,Prevalence at birth,Class only,Unknown,0.0,Worldwide
601018,Non-syndromic rectal atresia,Point prevalence,Class only,Unknown,0.0,Worldwide
601023,Non-syndromic rectal stenosis,Prevalence at birth,Class only,Unknown,0.0,Worldwide
601023,Non-syndromic rectal stenosis,Point prevalence,Class only,Unknown,0.0,Worldwide
600984,Non-syndromic rectovesical fistula,Prevalence at birth,Class only,Unknown,0.0,Worldwide
600984,Non-syndromic rectovesical fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
600993,Non-syndromic vestibular fistula,Prevalence at birth,Class only,Unknown,0.0,Worldwide
600993,Non-syndromic vestibular fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
600998,Non-syndromic cloacal malformation,Prevalence at birth,Class only,Unknown,0.0,Worldwide
600998,Non-syndromic cloacal malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
601002,Non-syndromic anorectal malformation without fistula,Prevalence at birth,Class only,Unknown,0.0,Worldwide
601002,Non-syndromic anorectal malformation without fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
600961,Non-syndromic rectourethral fistula,Prevalence at birth,Class only,Unknown,0.0,Worldwide
600961,Non-syndromic rectourethral fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
600952,Non-syndromic perineal fistula,Prevalence at birth,Class only,Unknown,0.0,Worldwide
600952,Non-syndromic perineal fistula,Point prevalence,Class only,Unknown,0.0,Worldwide
97245,Congenital myopathy,Point prevalence,Value and class,1-9 / 100 000,3.8,United States
97244,Rigid spine syndrome,Prevalence at birth,Class only,Unknown,0.0,Worldwide
97244,Rigid spine syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
97244,Rigid spine syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
97242,Congenital muscular dystrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
97242,Congenital muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.563,Italy
97261,GRFoma,Point prevalence,Class only,Unknown,0.0,Worldwide
97253,Neuroendocrine tumor of pancreas,Annual incidence,Value and class,1-9 / 1 000 000,0.22,United States
97253,Neuroendocrine tumor of pancreas,Annual incidence,Value and class,1-9 / 100 000,1.27,Japan
97253,Neuroendocrine tumor of pancreas,Point prevalence,Value and class,1-9 / 100 000,2.69,Japan
97253,Neuroendocrine tumor of pancreas,Annual incidence,Value and class,1-9 / 1 000 000,0.21,France
97253,Neuroendocrine tumor of pancreas,Annual incidence,Value and class,1-9 / 1 000 000,0.21,Europe
97253,Neuroendocrine tumor of pancreas,Point prevalence,Value and class,1-5 / 10 000,27.5,United States
97253,Neuroendocrine tumor of pancreas,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
97249,Pontocerebellar hypoplasia type 3,Cases/families,Family(ies),,3.0,Worldwide
97249,Pontocerebellar hypoplasia type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97279,Insulinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Ireland
97279,Insulinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Worldwide
97279,Insulinoma,Point prevalence,Value and class,1-9 / 1 000 000,0.56,Japan
97279,Insulinoma,Point prevalence,Class only,Unknown,0.0,Europe
97278,PPoma,Point prevalence,Class only,Unknown,0.0,Worldwide
97285,Thyroid lymphoma,Annual incidence,Class only,Unknown,0.0,Worldwide
97283,Somatostatinoma,Annual incidence,Value and class,<1 / 1 000 000,0.0025,Europe
97283,Somatostatinoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
97282,VIPoma,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
97282,VIPoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
97280,Glucagonoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Europe
97280,Glucagonoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
97290,Familial papillary thyroid carcinoma with renal papillary neoplasia,Cases/families,Case(s),,2.0,Worldwide
97286,Carney-Stratakis syndrome,Cases/families,Family(ies),,20.0,Worldwide
97286,Carney-Stratakis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97292,Cardiogenic shock,Point prevalence,Value and class,1-5 / 10 000,40.0,Europe
97332,Kienbock disease,Point prevalence,Value and class,1-9 / 100 000,6.6,Worldwide
97335,Osgood-Schlatter disease,Point prevalence,Class only,Unknown,0.0,Worldwide
97297,Bohring-Opitz syndrome,Cases/families,Case(s),,46.0,Worldwide
97297,Bohring-Opitz syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97330,Thoracic outlet syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
97338,Melanoma of soft tissue,Point prevalence,Value and class,1-9 / 100 000,3.89,Worldwide
97339,Dural sinus malformation with arteriovenous shunt,Point prevalence,Class only,Unknown,0.0,Worldwide
97336,Panner disease,Point prevalence,Class only,Unknown,0.0,Worldwide
97337,Sinding-Larsen-Johansson disease,Point prevalence,Class only,Unknown,0.0,Worldwide
97341,Persistent placoid maculopathy,Cases/families,Case(s),,5.0,Worldwide
97341,Persistent placoid maculopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97340,Hunter-McAlpine syndrome,Cases/families,Case(s),,10.0,Worldwide
97340,Hunter-McAlpine syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97353,Dementia pugilistica,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97360,Robinow syndrome,Cases/families,Case(s),,200.0,Worldwide
97360,Robinow syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
97355,Caribbean parkinsonism,Point prevalence,Class only,Unknown,0.0,Worldwide
97361,"Renal hypoplasia, unilateral",Point prevalence,Class only,Unknown,0.0,Worldwide
97362,"Renal hypoplasia, bilateral",Point prevalence,Class only,Unknown,0.0,Worldwide
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,1-5 / 10 000,23.2,Worldwide
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,1-5 / 10 000,14.8,Europe
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,1-5 / 10 000,45.4,United Kingdom
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,1-5 / 10 000,25.0,Japan
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,>1 / 1000,108.0,Saudi Arabia
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,1-5 / 10 000,24.4,Finland
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,1-5 / 10 000,41.0,United States
97363,Unilateral multicystic dysplastic kidney,Prevalence at birth,Value and class,6-9 / 10 000,60.3,Switzerland
97363,Unilateral multicystic dysplastic kidney,Point prevalence,Class only,Unknown,0.0,Europe
97364,Bilateral multicystic dysplastic kidney,Point prevalence,Class only,Unknown,0.0,Worldwide
97366,Multiloculated renal cyst,Point prevalence,Class only,Unknown,0.0,Worldwide
97548,Right isomerism,Point prevalence,Class only,Unknown,0.0,France
97548,Right isomerism,Prevalence at birth,Value and class,1-5 / 10 000,16.67,France
97560,Primary membranous glomerulonephritis,Annual incidence,Value and class,1-9 / 1 000 000,0.8103,Worldwide
97560,Primary membranous glomerulonephritis,Annual incidence,Value and class,1-9 / 1 000 000,0.9194,Europe
97560,Primary membranous glomerulonephritis,Point prevalence,Class only,Unknown,0.0,Worldwide
96181,Maternal uniparental disomy of chromosome 6 syndrome,Cases/families,Case(s),,15.0,Worldwide
96181,Maternal uniparental disomy of chromosome 6 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96178,Ring chromosome 16 syndrome,Cases/families,Case(s),,10.0,Worldwide
96178,Ring chromosome 16 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96177,Ring chromosome 15 syndrome,Cases/families,Case(s),,50.0,Worldwide
96177,Ring chromosome 15 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96176,Ring chromosome 13 syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.72,United Kingdom
96176,Ring chromosome 13 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
96188,Maternal uniparental disomy of chromosome 22 syndrome,Cases/families,Case(s),,4.0,Worldwide
96188,Maternal uniparental disomy of chromosome 22 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96187,Maternal uniparental disomy of chromosome 21 syndrome,Cases/families,Case(s),,2.0,Worldwide
96187,Maternal uniparental disomy of chromosome 21 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96186,Maternal uniparental disomy of chromosome 20 syndrome,Cases/families,Case(s),,12.0,Worldwide
96186,Maternal uniparental disomy of chromosome 20 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,Cases/families,Case(s),,64.0,Worldwide
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96192,Paternal uniparental disomy of chromosome 7 syndrome,Cases/families,Case(s),,4.0,Worldwide
96192,Paternal uniparental disomy of chromosome 7 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96253,Cushing disease,Point prevalence,Value and class,1-9 / 100 000,4.0,Europe
96253,Cushing disease,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Europe
96269,Isolated partial vaginal agenesis,Point prevalence,Value and class,1-5 / 10 000,10.0,Worldwide
96264,"49,XXXXY syndrome",Prevalence at birth,Value and class,1-9 / 1 000 000,0.55,Europe
96264,"49,XXXXY syndrome",Point prevalence,Class only,Unknown,0.0,Worldwide
96263,"48,XXXY syndrome",Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
96263,"48,XXXY syndrome",Point prevalence,Class only,1-9 / 100 000,0.0,Europe
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,Cases/families,Case(s),,37.0,Worldwide
97214,Eisenmenger syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Belgium
97214,Eisenmenger syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
97234,Glycogen storage disease due to phosphoglycerate mutase deficiency,Cases/families,Case(s),,24.0,Worldwide
97234,Glycogen storage disease due to phosphoglycerate mutase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97238,Rippling muscle disease,Cases/families,Case(s),,59.0,Worldwide
97238,Rippling muscle disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97239,Reducing body myopathy,Cases/families,Family(ies),,4.0,Worldwide
97239,Reducing body myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97240,Zebra body myopathy,Cases/families,Case(s),,10.0,Worldwide
97240,Zebra body myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97229,Riboflavin transporter deficiency,Cases/families,Case(s),,109.0,Worldwide
97229,Riboflavin transporter deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97230,Solar urticaria,Point prevalence,Value and class,1-9 / 100 000,3.1,United Kingdom
97230,Solar urticaria,Point prevalence,Class only,Unknown,0.0,Worldwide
97232,Fingerprint body myopathy,Cases/families,Case(s),,20.0,Worldwide
97232,Fingerprint body myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
600194,Factor V Atlanta bleeding disorder,Cases/families,Case(s),,1.0,Worldwide
600194,Factor V Atlanta bleeding disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97678,Maternal uniparental disomy of chromosome 13 syndrome,Cases/families,Case(s),,3.0,Worldwide
97678,Maternal uniparental disomy of chromosome 13 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
97593,Pseudohypoparathyroidism,Point prevalence,Value and class,1-9 / 1 000 000,0.67,Italy
97593,Pseudohypoparathyroidism,Point prevalence,Value and class,1-9 / 1 000 000,0.34,Japan
97593,Pseudohypoparathyroidism,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
97564,Pauci-immune glomerulonephritis without ANCA,Point prevalence,Class only,Unknown,0.0,Worldwide
97563,Pauci-immune glomerulonephritis with ANCA,Point prevalence,Class only,Unknown,0.0,Worldwide
97685,17q11 microdeletion syndrome,Cases/families,Case(s),,170.0,Worldwide
97685,17q11 microdeletion syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
95707,Idiopathic isolated micropenis,Point prevalence,Class only,Unknown,0.0,Worldwide
95706,Non-syndromic posterior hypospadias,Prevalence at birth,Value and class,1-5 / 10 000,19.25,Europe
95706,Non-syndromic posterior hypospadias,Point prevalence,Class only,Unknown,0.0,Europe
95702,X-linked adrenal hypoplasia congenita,Point prevalence,Value and class,1-9 / 100 000,8.0,Worldwide
95702,X-linked adrenal hypoplasia congenita,Prevalence at birth,Value and class,1-9 / 100 000,8.0,Worldwide
95715,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
95716,Familial thyroid dyshormonogenesis,Annual incidence,Value and class,1-9 / 100 000,2.67,Worldwide
95716,Familial thyroid dyshormonogenesis,Point prevalence,Value and class,1-9 / 100 000,4.0,Europe
95716,Familial thyroid dyshormonogenesis,Annual incidence,Value and class,1-9 / 100 000,4.0,Finland
95713,Athyreosis,Point prevalence,Value and class,1-9 / 100 000,3.5,Europe
95714,Primary congenital hypothyroidism without thyroid developmental anomaly,Point prevalence,Class only,Unknown,0.0,Worldwide
95711,Congenital hypothyroidism due to developmental anomaly,Point prevalence,Value and class,1-5 / 10 000,21.3,Europe
95712,Thyroid ectopia,Point prevalence,Value and class,1-5 / 10 000,14.3,Europe
95613,Pituitary apoplexy,Point prevalence,Class only,Unknown,0.0,Worldwide
95700,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,Cases/families,Case(s),,3.0,Worldwide
95700,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Europe
95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
95626,Acquired arginine vasopressin deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
95506,Primary hypophysitis,Point prevalence,Class only,Unknown,0.0,Worldwide
95496,Pituitary stalk interruption syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
95494,"Combined pituitary hormone deficiencies, genetic forms",Point prevalence,Class only,Unknown,0.0,Worldwide
95433,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
95433,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,Cases/families,Family(ies),,3.0,Worldwide
95434,Autosomal recessive cerebellar ataxia-movement disorder syndrome,Cases/families,Case(s),,27.0,Worldwide
95434,Autosomal recessive cerebellar ataxia-movement disorder syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,Annual incidence,Value and class,1-9 / 1 000 000,0.19,Worldwide
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,Point prevalence,Class only,Unknown,0.0,Worldwide
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,Annual incidence,Value and class,1-9 / 1 000 000,0.8,"Taiwan, Province of China"
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,Annual incidence,Value and class,1-9 / 1 000 000,0.189,Germany
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,Annual incidence,Value and class,1-9 / 1 000 000,0.19,United States
95157,Acute hepatic porphyria,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
95159,Hepatoerythropoietic porphyria,Cases/families,Case(s),,40.0,Worldwide
95159,Hepatoerythropoietic porphyria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
95428,COG8-CDG,Cases/families,Case(s),,2.0,Worldwide
95428,COG8-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
95427,Secondary short bowel syndrome,Annual incidence,Class only,Unknown,0.0,Worldwide
95427,Secondary short bowel syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
95409,Acute adrenal insufficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
95432,Primary progressive aphasia,Point prevalence,Value and class,1-9 / 100 000,7.0,Worldwide
95430,Congenital tracheomalacia,Point prevalence,Class only,Unknown,0.0,Europe
95429,Angioma serpiginosum,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
94091,Mills syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.12,United Kingdom
94093,Neuroleptic malignant syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
94122,"Cerebellar ataxia, Cayman type",Point prevalence,Class only,Unknown,0.0,Worldwide
94124,Spinocerebellar ataxia with axonal neuropathy type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
94124,Spinocerebellar ataxia with axonal neuropathy type 1,Cases/families,Case(s),,9.0,Worldwide
94145,Autosomal dominant cerebellar ataxia type I,Point prevalence,Class only,Unknown,0.0,Worldwide
94147,Spinocerebellar ataxia type 7,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
94148,Autosomal dominant cerebellar ataxia type III,Point prevalence,Class only,Unknown,0.0,Worldwide
94064,Deafness-infertility syndrome,Cases/families,Family(ies),,3.0,Worldwide
94064,Deafness-infertility syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
94063,12q14 microdeletion syndrome,Cases/families,Case(s),,22.0,Worldwide
94063,12q14 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
94066,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,Cases/families,Case(s),,2.0,Worldwide
94066,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
94065,15q24 microdeletion syndrome,Cases/families,Case(s),,30.0,Worldwide
94065,15q24 microdeletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
94068,Spondyloepiphyseal dysplasia congenita,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Europe
94068,Spondyloepiphyseal dysplasia congenita,Point prevalence,Class only,Unknown,0.0,Worldwide
94083,Partington syndrome,Cases/families,Family(ies),,2.0,Worldwide
94083,Partington syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
94086,Blue diaper syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
94088,Hereditary renal hypouricemia,Point prevalence,Class only,Unknown,0.0,Worldwide
94087,Cytophagic histiocytic panniculitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
94087,Cytophagic histiocytic panniculitis,Cases/families,Case(s),,100.0,Worldwide
94090,Pseudohypoparathyroidism type 2,Point prevalence,Class only,Unknown,0.0,Europe
94089,Pseudohypoparathyroidism type 1B,Point prevalence,Class only,Unknown,0.0,Europe
96175,Ring chromosome 11 syndrome,Cases/families,Case(s),,20.0,Worldwide
96175,Ring chromosome 11 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96173,Ring chromosome 9 syndrome,Cases/families,Case(s),,31.0,Worldwide
96173,Ring chromosome 9 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96172,Ring chromosome 3 syndrome,Cases/families,Case(s),,11.0,Worldwide
96172,Ring chromosome 3 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96171,Ring chromosome 2 syndrome,Cases/families,Case(s),,18.0,Worldwide
96171,Ring chromosome 2 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96170,Emanuel syndrome,Cases/families,Case(s),,350.0,Worldwide
96170,Emanuel syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
96169,Koolen-De Vries syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
96168,Monosomy 13q34 syndrome,Prevalence at birth,Class only,Unknown,0.0,Worldwide
96168,Monosomy 13q34 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
96167,Recombinant 8 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
96148,Distal deletion 10q syndrome,Cases/families,Case(s),,40.0,Worldwide
96148,Distal deletion 10q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96147,Kleefstra syndrome due to 9q34 microdeletion,Cases/families,Case(s),,86.0,Worldwide
96147,Kleefstra syndrome due to 9q34 microdeletion,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96125,Distal deletion 6p syndrome,Cases/families,Case(s),,35.0,Worldwide
96125,Distal deletion 6p syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96121,7q11.23 microduplication syndrome,Cases/families,Case(s),,163.0,Worldwide
96121,7q11.23 microduplication syndrome,Point prevalence,Value and class,1-9 / 100 000,8.0,Worldwide
96102,Distal duplication 10q syndrome,Cases/families,Case(s),,40.0,Worldwide
96102,Distal duplication 10q syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96095,3q26 microduplication syndrome,Cases/families,Case(s),,100.0,Worldwide
96095,3q26 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96092,8p inverted duplication/deletion syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.9,Italy
96092,8p inverted duplication/deletion syndrome,Cases/families,Case(s),,60.0,Worldwide
96092,8p inverted duplication/deletion syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96078,16p13.3 microduplication syndrome,Cases/families,Case(s),,27.0,Worldwide
96078,16p13.3 microduplication syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96068,Mosaic trisomy 22 syndrome,Cases/families,Case(s),,39.0,Worldwide
96068,Mosaic trisomy 22 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96059,Mosaic trisomy 4 syndrome,Cases/families,Case(s),,7.0,Worldwide
96059,Mosaic trisomy 4 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96060,Mosaic trisomy 5 syndrome,Cases/families,Case(s),,8.0,Worldwide
96060,Mosaic trisomy 5 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
96061,Mosaic trisomy 8 syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
96063,Mosaic trisomy 10 syndrome,Cases/families,Case(s),,7.0,Worldwide
96063,Mosaic trisomy 10 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
95717,Idiopathic congenital hypothyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
95719,Thyroid hemiagenesis,Point prevalence,Value and class,1-5 / 10 000,25.0,Worldwide
95720,Thyroid hypoplasia,Point prevalence,Value and class,1-9 / 100 000,3.5,Worldwide
96055,Tetrasomy 21 syndrome,Cases/families,Case(s),,13.0,Worldwide
96055,Tetrasomy 21 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
597623,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,Cases/families,Case(s),,19.0,Worldwide
597623,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
597733,Oculocutaneous albinism type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
597733,Oculocutaneous albinism type 8,Cases/families,Case(s),,2.0,Worldwide
597738,Luscan-Lumish syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
597738,Luscan-Lumish syndrome,Cases/families,Case(s),,11.0,Worldwide
597887,ALPI-related inflammatory bowel disease,Cases/families,Case(s),,2.0,Worldwide
597887,ALPI-related inflammatory bowel disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93555,Mixed cryoglobulinemia type III,Point prevalence,Class only,Unknown,0.0,Worldwide
93554,Mixed cryoglobulinemia type II,Point prevalence,Class only,Unknown,0.0,Worldwide
597939,Euthyroid dysprealbuminemic hyperthyroxinemia,Cases/families,Case(s),,23.0,Worldwide
597939,Euthyroid dysprealbuminemic hyperthyroxinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
597743,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
597743,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,Cases/families,Case(s),,12.0,Worldwide
597746,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,Cases/families,Case(s),,122.0,Worldwide
597746,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
93552,Pediatric systemic lupus erythematosus,Point prevalence,Value and class,1-9 / 100 000,1.1,United States
93552,Pediatric systemic lupus erythematosus,Annual incidence,Value and class,1-9 / 1 000 000,0.7,United States
597874,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,Cases/families,Case(s),,3.0,Worldwide
597874,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
598216,Upper tract urothelial carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
598216,Upper tract urothelial carcinoma,Annual incidence,Value and class,1-9 / 100 000,1.5,Worldwide
598603,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,Cases/families,Case(s),,4.0,Worldwide
598603,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
598363,Multisystem inflammatory syndrome in children and adults,Annual incidence,Class only,Unknown,0.0,Worldwide
598363,Multisystem inflammatory syndrome in children and adults,Point prevalence,Class only,Unknown,0.0,Worldwide
93561,ALys amyloidosis,Cases/families,Family(ies),,7.0,Worldwide
93561,ALys amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93571,Dense deposit disease,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Worldwide
597201,TRIM22-related inflammatory bowel disease,Cases/families,Case(s),,8.0,Worldwide
597201,TRIM22-related inflammatory bowel disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93474,Scheie syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Canada
93474,Scheie syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.07,United Kingdom
93474,Scheie syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Canada
93474,Scheie syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.07,United Kingdom
93476,Hurler-Scheie syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.24,United Kingdom
93476,Hurler-Scheie syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
93473,Hurler syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Europe
93473,Hurler syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.76,United Kingdom
93473,Hurler syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.64,Germany
93473,Hurler syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Denmark
93473,Hurler syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Denmark
93473,Hurler syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.05,Portugal
93473,Hurler syndrome,Prevalence at birth,Value and class,<1 / 1 000 000,0.06,"Taiwan, Province of China"
93473,Hurler syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.93,Australia
93473,Hurler syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.7,Europe
93473,Hurler syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.07,United States
93473,Hurler syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.26,United States
93398,Genochondromatosis type 2,Cases/families,Case(s),,10.0,Worldwide
93398,Genochondromatosis type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599373,STXBP1-related encephalopathy,Point prevalence,Value and class,1-9 / 100 000,1.0885,Denmark
599373,STXBP1-related encephalopathy,Cases/families,Case(s),,282.0,Worldwide
599373,STXBP1-related encephalopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Worldwide
93403,Syndactyly type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
599376,Hypomyelination of early myelinating structures,Cases/families,Case(s),,20.0,Worldwide
599376,Hypomyelination of early myelinating structures,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93402,Syndactyly type 1,Prevalence at birth,Value and class,1-5 / 10 000,25.0,Europe
93402,Syndactyly type 1,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
93405,Syndactyly type 4,Cases/families,Case(s),,4.0,Worldwide
93405,Syndactyly type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93404,Syndactyly type 3,Point prevalence,Class only,Unknown,0.0,Worldwide
599480,Acquired hemophilia A,Point prevalence,Class only,Unknown,0.0,Europe
599480,Acquired hemophilia A,Annual incidence,Value and class,1-9 / 1 000 000,0.1505,Europe
599480,Acquired hemophilia A,Point prevalence,Class only,Unknown,0.0,United Kingdom
599480,Acquired hemophilia A,Annual incidence,Value and class,1-9 / 100 000,0.141,United Kingdom
599480,Acquired hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.3063,Spain
599480,Acquired hemophilia A,Annual incidence,Value and class,<1 / 1 000 000,0.0829,Spain
599480,Acquired hemophilia A,Point prevalence,Class only,Unknown,0.0,Germany
599480,Acquired hemophilia A,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Germany
599480,Acquired hemophilia A,Point prevalence,Class only,Unknown,0.0,Australia
599480,Acquired hemophilia A,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Australia
599480,Acquired hemophilia A,Point prevalence,Class only,Unknown,0.0,Japan
599480,Acquired hemophilia A,Annual incidence,Value and class,<1 / 1 000 000,0.097,Japan
599480,Acquired hemophilia A,Point prevalence,Class only,Unknown,0.0,Switzerland
599480,Acquired hemophilia A,Annual incidence,Value and class,1-9 / 1 000 000,0.45,Switzerland
599485,Acquired hemophilia B,Point prevalence,Class only,Unknown,0.0,Worldwide
599485,Acquired hemophilia B,Annual incidence,Class only,Unknown,0.0,Worldwide
93406,Syndactyly type 5,Cases/families,Case(s),,10.0,Worldwide
93406,Syndactyly type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599490,Acquired factor V deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599490,Acquired factor V deficiency,Cases/families,Case(s),,200.0,Worldwide
599490,Acquired factor V deficiency,Annual incidence,Value and class,<1 / 1 000 000,0.029,Australia
599490,Acquired factor V deficiency,Annual incidence,Value and class,<1 / 1 000 000,0.009,Singapore
93409,"Brachydactyly-syndactyly, Zhao type",Cases/families,Family(ies),,2.0,Worldwide
93409,"Brachydactyly-syndactyly, Zhao type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599495,Acquired factor VII deficiency,Cases/families,Case(s),,83.0,Worldwide
599495,Acquired factor VII deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599501,Acquired factor X deficiency,Cases/families,Case(s),,77.0,Worldwide
599501,Acquired factor X deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599507,Acquired factor XI deficiency,Cases/families,Case(s),,15.0,Worldwide
599507,Acquired factor XI deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599513,Acquired factor XIII deficiency,Cases/families,Case(s),,95.0,Worldwide
599513,Acquired factor XIII deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599519,Factor V short isoforms-related bleeding disorder,Cases/families,Case(s),,3.0,Worldwide
599519,Factor V short isoforms-related bleeding disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93420,FGFR3-related chondrodysplasia,Prevalence at birth,Value and class,1-9 / 100 000,8.1,United States
599579,Factor V Amsterdam bleeding disorder,Cases/families,Case(s),,2.0,Worldwide
599579,Factor V Amsterdam bleeding disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93360,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
93358,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,Cases/families,Case(s),,27.0,Worldwide
93358,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93357,SPONASTRIME dysplasia,Cases/families,Case(s),,16.0,Worldwide
93357,SPONASTRIME dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
599082,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,Cases/families,Case(s),,60.0,Worldwide
599082,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93372,Familial hypocalciuric hypercalcemia type 1,Point prevalence,Value and class,6-9 / 10 000,74.1,United States
93372,Familial hypocalciuric hypercalcemia type 1,Point prevalence,Value and class,1-9 / 100 000,5.5,Worldwide
93372,Familial hypocalciuric hypercalcemia type 1,Point prevalence,Value and class,1-9 / 100 000,1.3,United Kingdom
93382,Brachydactyly type A6,Cases/families,Case(s),,7.0,Worldwide
93382,Brachydactyly type A6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93383,Brachydactyly type B,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
93383,Brachydactyly type B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93387,Brachydactyly type E,Point prevalence,Class only,Unknown,0.0,Worldwide
93388,Brachydactyly type A1,Point prevalence,Class only,Unknown,0.0,Worldwide
93384,Brachydactyly type C,Point prevalence,Class only,Unknown,0.0,Worldwide
93396,Brachydactyly type A2,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
93396,Brachydactyly type A2,Point prevalence,Class only,Unknown,0.0,Worldwide
93397,Brachydactyly type A7,Cases/families,Family(ies),,1.0,Worldwide
93397,Brachydactyly type A7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93394,Brachydactyly type A4,Point prevalence,Class only,Unknown,0.0,Worldwide
595356,Localized dystrophic epidermolysis bullosa,Point prevalence,Class only,Unknown,0.0,Worldwide
595356,Localized dystrophic epidermolysis bullosa,Prevalence at birth,Class only,Unknown,0.0,Worldwide
94059,Uremic pruritus,Point prevalence,Value and class,1-5 / 10 000,35.0,Europe
94058,Neovascular glaucoma,Point prevalence,Value and class,1-5 / 10 000,24.4,Europe
94056,Isolated humero-ulnar synostosis,Cases/families,Case(s),,5.0,Worldwide
94056,Isolated humero-ulnar synostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93976,Anotia,Point prevalence,Value and class,<1 / 1 000 000,0.03,Specific population
93976,Anotia,Prevalence at birth,Value and class,<1 / 1 000 000,0.028,Europe
93976,Anotia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
93976,Anotia,Prevalence at birth,Value and class,<1 / 1 000 000,0.04,France
93976,Anotia,Point prevalence,Class only,<1 / 1 000 000,0.0,France
93976,Anotia,Prevalence at birth,Value and class,<1 / 1 000 000,0.03,Italy
93976,Anotia,Point prevalence,Class only,<1 / 1 000 000,0.0,Italy
93976,Anotia,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Sweden
93976,Anotia,Point prevalence,Class only,<1 / 1 000 000,0.0,Sweden
93976,Anotia,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,United States
93976,Anotia,Point prevalence,Class only,<1 / 1 000 000,0.0,United States
93976,Anotia,Prevalence at birth,Value and class,<1 / 1 000 000,0.02,Finland
93976,Anotia,Point prevalence,Class only,<1 / 1 000 000,0.0,Finland
93976,Anotia,Prevalence at birth,Value and class,<1 / 1 000 000,0.05,Chile
93976,Anotia,Point prevalence,Class only,<1 / 1 000 000,0.0,Chile
93932,FG syndrome type 1,Prevalence at birth,Class only,Unknown,0.0,Worldwide
93932,FG syndrome type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
93930,Classic bladder exstrophy,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Spain
93930,Classic bladder exstrophy,Prevalence at birth,Class only,1-9 / 100 000,0.0,Europe
93930,Classic bladder exstrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
93930,Classic bladder exstrophy,Prevalence at birth,Value and class,1-9 / 100 000,2.8,United States
93930,Classic bladder exstrophy,Prevalence at birth,Value and class,1-9 / 100 000,3.05,Worldwide
93928,Isolated epispadias,Prevalence at birth,Value and class,1-9 / 100 000,2.4,Europe
93928,Isolated epispadias,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
93929,Cloacal exstrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.75,Europe
93929,Cloacal exstrophy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
93929,Cloacal exstrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,United States
93929,Cloacal exstrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Spain
93929,Cloacal exstrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.54,Worldwide
93926,Midline interhemispheric variant of holoprosencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
93926,Midline interhemispheric variant of holoprosencephaly,Prevalence at birth,Class only,1-9 / 100 000,0.0,Worldwide
93926,Midline interhemispheric variant of holoprosencephaly,Prevalence at birth,Value and class,1-9 / 100 000,2.778,Romania
93924,Lobar holoprosencephaly,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
93925,Alobar holoprosencephaly,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
93921,Full schwannomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
93921,Full schwannomatosis,Annual incidence,Value and class,<1 / 1 000 000,0.058,Finland
93953,Familial thyroglossal duct cyst,Cases/families,Case(s),,22.0,Worldwide
93953,Familial thyroglossal duct cyst,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93952,"X-linked intellectual disability, Hedera type",Cases/families,Case(s),,9.0,Worldwide
93952,"X-linked intellectual disability, Hedera type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
595133,Perivascular epithelioid cell neoplasm,Annual incidence,Class only,Unknown,0.0,Worldwide
93947,"X-linked intellectual disability, Golabi-Ito-Hall type",Cases/families,Case(s),,3.0,Worldwide
93947,"X-linked intellectual disability, Golabi-Ito-Hall type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93946,Hamel cerebro-palato-cardiac syndrome,Cases/families,Case(s),,4.0,Worldwide
93946,Hamel cerebro-palato-cardiac syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93941,Laryngotracheoesophageal cleft type 4,Cases/families,Case(s),,20.0,Worldwide
93941,Laryngotracheoesophageal cleft type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93940,Laryngotracheoesophageal cleft type 3,Cases/families,Case(s),,30.0,Worldwide
93940,Laryngotracheoesophageal cleft type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93939,Laryngotracheoesophageal cleft type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
93938,Laryngotracheoesophageal cleft type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
93616,Hemoglobin H disease,Prevalence at birth,Value and class,1-9 / 100 000,8.7,United States
93616,Hemoglobin H disease,Point prevalence,Value and class,1-9 / 1 000 000,0.1,United States
93616,Hemoglobin H disease,Annual incidence,Value and class,>1 / 1000,1200.0,South East Asia
93622,Dent disease type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
93623,Dent disease type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
93672,Juvenile dermatomyositis,Annual incidence,Value and class,1-9 / 1 000 000,0.295,Worldwide
93672,Juvenile dermatomyositis,Point prevalence,Class only,Unknown,0.0,Europe
93685,Unicentric Castleman disease,Point prevalence,Class only,Unknown,0.0,Worldwide
93685,Unicentric Castleman disease,Annual incidence,Class only,1-9 / 100 000,0.0,United States
93890,Rare developmental defect during embryogenesis,Point prevalence,Value and class,1-9 / 100 000,3.3,France
93890,Rare developmental defect during embryogenesis,Prevalence at birth,Value and class,1-9 / 100 000,2.42,France
93591,Infantile nephronophthisis,Point prevalence,Class only,Unknown,0.0,Europe
93598,Primary hyperoxaluria type 1,Annual incidence,Value and class,<1 / 1 000 000,0.015,Netherlands
93598,Primary hyperoxaluria type 1,Point prevalence,Value and class,1-9 / 1 000 000,0.29,Netherlands
93598,Primary hyperoxaluria type 1,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Switzerland
93598,Primary hyperoxaluria type 1,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Switzerland
93598,Primary hyperoxaluria type 1,Annual incidence,Value and class,1-9 / 1 000 000,0.83,France
93598,Primary hyperoxaluria type 1,Point prevalence,Value and class,1-9 / 1 000 000,0.1,France
93583,Congenital thrombotic thrombocytopenic purpura,Annual incidence,Class only,<1 / 1 000 000,0.0,Worldwide
93583,Congenital thrombotic thrombocytopenic purpura,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93583,Congenital thrombotic thrombocytopenic purpura,Cases/families,Case(s),,123.0,Worldwide
93585,Immune-mediated thrombotic thrombocytopenic purpura,Annual incidence,Class only,1-9 / 1 000 000,0.0,Europe
93585,Immune-mediated thrombotic thrombocytopenic purpura,Point prevalence,Class only,Unknown,0.0,Worldwide
93610,Distal renal tubular acidosis with anemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
596759,Combined immunodeficiency due to RELA haploinsufficiency,Cases/families,Case(s),,5.0,Worldwide
596759,Combined immunodeficiency due to RELA haploinsufficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93608,Autosomal dominant distal renal tubular acidosis,Point prevalence,Class only,Unknown,0.0,Europe
93607,Autosomal recessive proximal renal tubular acidosis,Point prevalence,Class only,Unknown,0.0,Europe
596937,Portosinusoidal vascular disease,Point prevalence,Class only,Unknown,0.0,Worldwide
596937,Portosinusoidal vascular disease,Annual incidence,Class only,Unknown,0.0,Worldwide
596448,IgG4-related systemic disease,Point prevalence,Class only,Unknown,0.0,Worldwide
596448,IgG4-related systemic disease,Annual incidence,Class only,Unknown,0.0,Worldwide
596448,IgG4-related systemic disease,Point prevalence,Class only,1-9 / 100 000,0.0,Japan
596448,IgG4-related systemic disease,Annual incidence,Value and class,1-9 / 100 000,1.026,Japan
596448,IgG4-related systemic disease,Point prevalence,Value and class,1-9 / 1 000 000,0.576,Denmark
596448,IgG4-related systemic disease,Annual incidence,Value and class,1-9 / 1 000 000,0.6885,Denmark
93600,Primary hyperoxaluria type 3,Cases/families,Case(s),,50.0,Worldwide
93600,Primary hyperoxaluria type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
93599,Primary hyperoxaluria type 2,Cases/families,Case(s),,10.0,Worldwide
93599,Primary hyperoxaluria type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
93606,Nephrogenic syndrome of inappropriate antidiuresis,Cases/families,Case(s),,21.0,Worldwide
93606,Nephrogenic syndrome of inappropriate antidiuresis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
596753,VEXAS syndrome,Cases/families,Case(s),,37.0,Worldwide
596753,VEXAS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
93605,Bartter syndrome type 3,Point prevalence,Class only,Unknown,0.0,Europe
99094,Laubry-Pezzi syndrome,Point prevalence,Class only,Unknown,0.0,Europe
99063,Shone complex,Cases/families,Case(s),,100.0,Worldwide
99063,Shone complex,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99125,Congenital total pulmonary venous return anomaly,Prevalence at birth,Value and class,1-9 / 100 000,8.0,United States
99125,Congenital total pulmonary venous return anomaly,Prevalence at birth,Value and class,1-9 / 100 000,9.0,Worldwide
99125,Congenital total pulmonary venous return anomaly,Point prevalence,Value and class,1-9 / 100 000,9.0,Worldwide
99125,Congenital total pulmonary venous return anomaly,Point prevalence,Value and class,1-9 / 100 000,8.0,United States
99095,Congenital Gerbode defect,Point prevalence,Class only,Unknown,0.0,Europe
99147,Acquired von Willebrand syndrome,Cases/families,Case(s),,300.0,Worldwide
99147,Acquired von Willebrand syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
592873,Acute transverse myelitis with anti-MOG antibodies,Point prevalence,Class only,Unknown,0.0,Worldwide
592873,Acute transverse myelitis with anti-MOG antibodies,Annual incidence,Class only,Unknown,0.0,Worldwide
99141,Lymphedema-posterior choanal atresia syndrome,Cases/families,Case(s),,6.0,Worldwide
99141,Lymphedema-posterior choanal atresia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99329,"48,XYYY syndrome",Cases/families,Case(s),,10.0,Worldwide
99329,"48,XYYY syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99330,"49,XYYYY syndrome",Cases/families,Case(s),,8.0,Worldwide
99330,"49,XYYYY syndrome",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99657,"Primary dystonia, DYT2 type",Point prevalence,Class only,Unknown,0.0,Worldwide
99429,Complete androgen insensitivity syndrome,Annual incidence,Value and class,1-9 / 100 000,3.0,Europe
99429,Complete androgen insensitivity syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.83,Worldwide
99642,"Spondyloepimetaphyseal dysplasia, Handigodu type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99642,"Spondyloepimetaphyseal dysplasia, Handigodu type",Cases/families,Case(s),,234.0,Worldwide
99646,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,Point prevalence,Class only,Unknown,0.0,Worldwide
99688,Dermotrichic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
592574,Menke-Hennekam syndrome,Cases/families,Case(s),,27.0,Worldwide
592574,Menke-Hennekam syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
592564,GNAO1-related developmental delay-seizures-movement disorder spectrum,Cases/families,Case(s),,75.0,Worldwide
592564,GNAO1-related developmental delay-seizures-movement disorder spectrum,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
592570,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,Cases/families,Case(s),,55.0,Worldwide
592570,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99672,Fried's tooth and nail syndrome,Cases/families,Case(s),,12.0,Worldwide
99672,Fried's tooth and nail syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99718,Leber plus disease,Point prevalence,Value and class,<1 / 1 000 000,0.04,Europe
590539,Isolated melanotic schwannoma,Annual incidence,Class only,Unknown,0.0,Worldwide
590539,Isolated melanotic schwannoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99725,Pituitary gigantism,Point prevalence,Class only,Unknown,0.0,Worldwide
589821,Congenital-onset Steinert myotonic dystrophy,Prevalence at birth,Class only,Unknown,0.0,Worldwide
589821,Congenital-onset Steinert myotonic dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,2.1,Canada
589821,Congenital-onset Steinert myotonic dystrophy,Prevalence at birth,Value and class,1-9 / 1 000 000,0.94,Italy
589821,Congenital-onset Steinert myotonic dystrophy,Prevalence at birth,Value and class,1-5 / 10 000,47.6,United States
589821,Congenital-onset Steinert myotonic dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
589827,Juvenile-onset Steinert myotonic dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
589827,Juvenile-onset Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.64,Italy
589824,Childhood-onset Steinert myotonic dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
589824,Childhood-onset Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.29,Italy
589833,Late-onset Steinert myotonic dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
589833,Late-onset Steinert myotonic dystrophy,Point prevalence,Value and class,1-9 / 100 000,8.14,Italy
589830,Adult-onset Steinert myotonic dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
589830,Adult-onset Steinert myotonic dystrophy,Point prevalence,Value and class,1-5 / 10 000,12.54,Italy
589905,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,Cases/families,Case(s),,35.0,Worldwide
589905,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589856,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,Cases/families,Case(s),,18.0,Worldwide
589856,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99710,Punctate acrokeratoderma freckle-like pigmentation,Cases/families,Case(s),,7.0,Worldwide
99710,Punctate acrokeratoderma freckle-like pigmentation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99750,Atypical progressive supranuclear palsy syndrome,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
99749,Kostmann syndrome,Cases/families,Case(s),,45.0,Worldwide
99749,Kostmann syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99749,Kostmann syndrome,Annual incidence,Value and class,<1 / 1 000 000,0.0425,Brazil
99748,Pontiac fever,Point prevalence,Class only,Unknown,0.0,Worldwide
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.048,Austria
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.091,Belgium
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.034,Bulgaria
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.054,Croatia
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.011,Czech Republic
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.055,Estonia
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Finland
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.046,Germany
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.089,Ireland
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.045,Italy
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.032,Latvia
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.046,Lithuania
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.057,Norway
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.035,Poland
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.051,Portugal
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.074,Slovakia
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.088,Slovenia
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.051,Spain
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.051,Switzerland
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.093,Netherlands
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.053,United Kingdom
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.128,Iceland
99757,Embryonal rhabdomyosarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.126,Malta
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.018,Austria
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.054,Belgium
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.03,Bulgaria
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.017,Croatia
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Czech Republic
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.009,Estonia
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.002,Finland
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.033,Germany
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.085,Iceland
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.062,Ireland
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.039,Italy
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.005,Latvia
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.021,Lithuania
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.063,Malta
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.035,Norway
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Poland
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.02,Portugal
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.029,Slovakia
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.044,Slovenia
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.027,Spain
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.045,Switzerland
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.036,Netherlands
99756,Alveolar rhabdomyosarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.039,United Kingdom
99734,Myotonia fluctuans,Point prevalence,Class only,Unknown,0.0,Worldwide
99731,Isolated sulfite oxidase deficiency,Cases/families,Case(s),,50.0,Worldwide
99731,Isolated sulfite oxidase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99735,Myotonia permanens,Point prevalence,Class only,Unknown,0.0,Worldwide
99736,Acetazolamide-responsive myotonia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
99741,King-Denborough syndrome,Cases/families,Case(s),,18.0,Worldwide
99741,King-Denborough syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99742,Amish lethal microcephaly,Prevalence at birth,Value and class,>1 / 1000,200.0,Specific population
99742,Amish lethal microcephaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99745,Typhoid,Annual incidence,Value and class,1-9 / 100 000,3.0,Europe
99745,Typhoid,Annual incidence,Value and class,>1 / 1000,274.0,South East Asia
99745,Typhoid,Annual incidence,Value and class,1-5 / 10 000,53.0,Latin America
99745,Typhoid,Annual incidence,Value and class,1-5 / 10 000,50.0,Africa
99745,Typhoid,Annual incidence,Class only,1-9 / 1 000 000,0.0,North America
99745,Typhoid,Annual incidence,Value and class,1-5 / 10 000,15.0,Oceania
99745,Typhoid,Annual incidence,Value and class,1-9 / 1 000 000,0.2,France
99745,Typhoid,Point prevalence,Class only,Unknown,0.0,Worldwide
98820,Familial focal epilepsy with variable foci,Cases/families,Case(s),,76.0,Worldwide
98820,Familial focal epilepsy with variable foci,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98818,Landau-Kleffner syndrome,Point prevalence,Value and class,1-9 / 1 000 000,0.4,Japan
98815,Self-limited epilepsy with autonomic seizures,Annual incidence,Value and class,1-9 / 1 000 000,0.8,United Kingdom
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,Prevalence at birth,Value and class,1-9 / 1 000 000,0.2,Europe
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
98811,Paroxysmal exertion-induced dyskinesia,Cases/families,Case(s),,50.0,Worldwide
98811,Paroxysmal exertion-induced dyskinesia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98810,Paroxysmal non-kinesigenic dyskinesia,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Worldwide
98809,Paroxysmal kinesigenic dyskinesia,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Worldwide
98808,Autosomal dominant dopa-responsive dystonia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
98807,"Primary dystonia, DYT13 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98807,"Primary dystonia, DYT13 type",Cases/families,Case(s),,8.0,Worldwide
98838,Primary mediastinal large B-cell lymphoma,Point prevalence,Value and class,1-9 / 100 000,5.0,Europe
98833,Acute myeloblastic leukemia without maturation,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
98834,Acute myeloblastic leukemia with maturation,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
98831,Acute myeloid leukemia with 11q23 abnormalities,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
98832,Acute myeloid leukemia with minimal differentiation,Annual incidence,Value and class,<1 / 1 000 000,0.01,Europe
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
98827,Unclassified myelodysplastic syndrome,Annual incidence,Class only,Unknown,0.0,Worldwide
98827,Unclassified myelodysplastic syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
98826,Myelodysplastic neoplasm with low blasts,Point prevalence,Class only,Unknown,0.0,Worldwide
98823,Chronic myelomonocytic leukemia,Annual incidence,Value and class,1-9 / 1 000 000,0.68,Worldwide
98824,Atypical chronic myeloid leukemia,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
98851,Mast cell leukemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
98851,Mast cell leukemia,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
98848,Indolent systemic mastocytosis,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
98850,Aggressive systemic mastocytosis,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
98849,Systemic mastocytosis with associated hematologic neoplasm,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
98844,"Classic Hodgkin lymphoma, mixed cellularity type",Annual incidence,Value and class,1-9 / 1 000 000,0.42,Europe
98843,"Classic Hodgkin lymphoma, nodular sclerosis type",Annual incidence,Value and class,1-9 / 100 000,1.28,Europe
98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type",Annual incidence,Value and class,<1 / 1 000 000,0.04,Europe
98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
98842,Lymphomatoid papulosis,Point prevalence,Class only,Unknown,0.0,Europe
98841,Anaplastic large cell lymphoma,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",Cases/families,Case(s),,7.0,Worldwide
589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589595,Mixed phenotype acute leukemia with t(v;11q23.3),Annual incidence,Class only,Unknown,0.0,Worldwide
589595,Mixed phenotype acute leukemia with t(v;11q23.3),Point prevalence,Class only,Unknown,0.0,Worldwide
98868,Southeast Asian ovalocytosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
98869,Congenital dyserythropoietic anemia type I,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
98869,Congenital dyserythropoietic anemia type I,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98869,Congenital dyserythropoietic anemia type I,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Worldwide
98869,Congenital dyserythropoietic anemia type I,Cases/families,Case(s),,300.0,Worldwide
589618,Dystonia 28,Cases/families,Case(s),,160.0,Worldwide
589618,Dystonia 28,Point prevalence,Class only,Unknown,0.0,Worldwide
98870,Congenital dyserythropoietic anemia type III,Cases/families,Case(s),,60.0,Worldwide
98870,Congenital dyserythropoietic anemia type III,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589534,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),Annual incidence,Class only,Unknown,0.0,Worldwide
589534,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),Point prevalence,Class only,Unknown,0.0,Worldwide
98863,X-linked Emery-Dreifuss muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.13,United Kingdom
98863,X-linked Emery-Dreifuss muscular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,1.0,Worldwide
98863,X-linked Emery-Dreifuss muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.0,Worldwide
589527,Spinocerebellar ataxia type 45,Cases/families,Case(s),,7.0,Worldwide
589527,Spinocerebellar ataxia type 45,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",Cases/families,Case(s),,98.0,Worldwide
589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589542,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,Annual incidence,Class only,Unknown,0.0,Worldwide
589542,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,Point prevalence,Class only,Unknown,0.0,Worldwide
589442,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,Cases/families,Case(s),,7.0,Worldwide
589442,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589435,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,Cases/families,Case(s),,2.0,Worldwide
589435,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589522,Spinocerebellar ataxia type 46,Cases/families,Family(ies),,1.0,Worldwide
589522,Spinocerebellar ataxia type 46,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
589515,PUM1-associated developmental disability-ataxia-seizure syndrome,Cases/families,Case(s),,14.0,Worldwide
589515,PUM1-associated developmental disability-ataxia-seizure syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98856,Charcot-Marie-Tooth disease type 2B1,Point prevalence,Class only,Unknown,0.0,Worldwide
98881,Familial dysfibrinogenemia,Point prevalence,Class only,Unknown,0.0,Worldwide
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.0,Albania
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.44,Algeria
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.54,Argentina
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Armenia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.665,Austria
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.16,Azerbaijan
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.015,Bangladesh
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.84,Belarus
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.32,Belgium
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.155,Belize
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.045,Bolivia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.265,Bosnia and Herzegovina
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.535,Brazil
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.775,Bulgaria
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.795,Chile
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.405,Colombia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.645,Costa rica
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.625,Croatia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.49,Cuba
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,3.195,Cyprus
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.045,Czech Republic
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.56,Denmark
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.165,Dominican Republic
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.25,Ecuador
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.955,Egypt
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.31,El Salvador
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.065,Eritrea
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Estonia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.235,Finland
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Georgia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.885,Germany
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.075,Greece
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.075,Guatemala
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.17,Honduras
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,2.115,Hungary
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.695,Iceland
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.095,India
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.01,Indonesia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.98,"Iran, Islamic Republic of"
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.545,Iraq
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.06,Italy
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.495,"Korea, Republic of"
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.76,Latvia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.57,Lithuania
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.235,Luxembourg
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,3.205,North Macedonia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Malaysia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.77,Malta
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.29,Mexico
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.37,"Moldova, Republic of"
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Mongolia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Morocco
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.065,Nepal
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.035,Netherlands
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.855,New Zealand
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.005,Nigeria
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.975,Norway
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Pakistan
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.84,"Palestinian Territory, occupied"
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.24,Peru
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Philippines
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.85,Poland
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.93,Portugal
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,2.265,Qatar
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.73,Russian Federation
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.15,Saudi Arabia
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.04,Senegal
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.715,Serbia
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.045,Sierra leone
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.545,Singapore
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.995,Israel
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.32,Jamaica
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.745,Jordan
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.13,Kenya
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.33,Lebanon
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.33,Nicaragua
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.585,Panama
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.375,Paraguay
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.76,Romania
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.28,Slovakia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.82,Slovenia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.525,South Africa
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.765,Spain
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.065,Sri Lanka
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.115,Sudan
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.85,Sweden
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.375,Switzerland
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.085,Thailand
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.02,Togo
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.37,Tunisia
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.31,Turkey
98879,Hemophilia B,Point prevalence,Value and class,<1 / 1 000 000,0.01,Ukraine
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,2.08,United Kingdom
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.36,Uruguay
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.285,Uzbekistan
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,1.18,Venezuela
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.14,Viet Nam
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 1 000 000,0.35,Zimbabwe
98879,Hemophilia B,Prevalence at birth,Value and class,1-9 / 100 000,1.665,Worldwide
98879,Hemophilia B,Point prevalence,Value and class,1-9 / 100 000,2.44,France
98873,Congenital dyserythropoietic anemia type II,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
98873,Congenital dyserythropoietic anemia type II,Cases/families,Case(s),,377.0,Europe
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.85,Worldwide
98878,Hemophilia A,Prevalence at birth,Value and class,1-5 / 10 000,11.25,Worldwide
98878,Hemophilia A,Point prevalence,Value and class,1-5 / 10 000,10.5,France
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,7.0,United States
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,8.0,Europe
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.58,Africa
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,7.6,Albania
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.8,Algeria
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.5,Argentina
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.0,Armenia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.8,Australia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.3,Austria
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,8.0,Azerbaijan
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.2,Bangladesh
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.1,Belarus
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.0,Belgium
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.2,Belize
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Bolivia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.6,Bosnia and Herzegovina
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.7,Brazil
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.8,Bulgaria
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,7.3,Canada
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.3,Chile
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.2,China
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.6,Colombia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.0,Costa rica
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,8.5,Croatia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.7,Cuba
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.2,Cyprus
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.1,Czech Republic
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.2,Denmark
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.8,Dominican Republic
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.5,Ecuador
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.4,Egypt
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.0,El Salvador
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.7,Eritrea
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.8,Estonia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.6,Finland
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.0,Germany
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.5,Greece
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.0,Guatemala
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.6,Honduras
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,8.3,Hungary
98878,Hemophilia A,Point prevalence,Value and class,1-5 / 10 000,19.3,Iceland
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.7,India
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Indonesia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.6,"Iran, Islamic Republic of"
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.8,Iraq
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,9.2,Ireland
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.4,Israel
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.7,Italy
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.6,Jamaica
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.3,Japan
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.5,Jordan
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.1,Kenya
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.0,"Korea, Republic of"
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.9,Latvia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.5,Lebanon
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.7,Lesotho
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.1,Lithuania
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.4,Luxembourg
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,8.1,North Macedonia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.3,Malaysia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.3,Malta
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.2,Mexico
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.7,"Moldova, Republic of"
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.4,Mongolia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.0,Morocco
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Nepal
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,9.3,Netherlands
98878,Hemophilia A,Point prevalence,Value and class,1-5 / 10 000,11.0,New Zealand
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.7,Nicaragua
98878,Hemophilia A,Point prevalence,Value and class,<1 / 1 000 000,0.025,Nigeria
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.1,Norway
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Pakistan
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.7,"Palestinian Territory, occupied"
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.6,Panama
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.2,Paraguay
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.6,Peru
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.9,Philippines
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,5.6,Poland
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.9,Portugal
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,7.9,Qatar
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,6.4,Romania
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.3,Russian Federation
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Saudi Arabia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.8,Senegal
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.7,Serbia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Sierra leone
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.0,Singapore
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,8.6,Slovakia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,8.2,Slovenia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.0,South Africa
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.8,Spain
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Sri Lanka
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.85,Sudan
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,7.7,Sweden
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,7.1,Switzerland
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.8,Thailand
98878,Hemophilia A,Point prevalence,Value and class,<1 / 1 000 000,0.02,Togo
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.2,Tunisia
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.1,Turkey
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 1 000 000,0.35,Ukraine
98878,Hemophilia A,Point prevalence,Value and class,1-5 / 10 000,10.4,United Kingdom
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.9,Uruguay
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,3.8,Uzbekistan
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.9,Venezuela
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,1.0,Viet Nam
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,2.3,Zimbabwe
98878,Hemophilia A,Point prevalence,Value and class,1-9 / 100 000,4.4,Georgia
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
98895,Becker muscular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,2.7,United Kingdom
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,3.64,United Kingdom
98895,Becker muscular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,2.5,United States
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.4,United States
98895,Becker muscular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Europe
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.53,Worldwide
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.47,Italy
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,3.94,Egypt
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.91,Japan
98895,Becker muscular dystrophy,Point prevalence,Value and class,<1 / 1 000 000,0.07,South Africa
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.59,Ireland
98895,Becker muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.42,Puerto rico
98896,Duchenne muscular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,9.9,Worldwide
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,4.14,United Kingdom
98896,Duchenne muscular dystrophy,Prevalence at birth,Value and class,1-5 / 10 000,14.0,United States
98896,Duchenne muscular dystrophy,Prevalence at birth,Value and class,1-5 / 10 000,12.0,Netherlands
98896,Duchenne muscular dystrophy,Prevalence at birth,Value and class,1-5 / 10 000,10.5,Canada
98896,Duchenne muscular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,9.7,United Kingdom
98896,Duchenne muscular dystrophy,Prevalence at birth,Value and class,1-9 / 100 000,8.2,Ireland
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.7,Italy
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,4.26,Ireland
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.8,Worldwide
98896,Duchenne muscular dystrophy,Lifetime Prevalence,Value and class,1-9 / 100 000,7.66,Egypt
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,3.56,Japan
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.47,South Africa
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.75,Denmark
98896,Duchenne muscular dystrophy,Point prevalence,Value and class,1-9 / 100 000,2.59,Puerto rico
98902,Amish nemaline myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
98902,Amish nemaline myopathy,Prevalence at birth,Value and class,>1 / 1000,200.0,Specific population
98890,Early-onset X-linked optic atrophy,Cases/families,Family(ies),,4.0,Worldwide
98890,Early-onset X-linked optic atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98893,Congenital muscular dystrophy type 1B,Cases/families,Case(s),,6.0,Worldwide
98893,Congenital muscular dystrophy type 1B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98892,Periventricular nodular heterotopia,Point prevalence,Class only,Unknown,0.0,Worldwide
98912,"Late-onset distal myopathy, Markesbery-Griggs type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98912,"Late-onset distal myopathy, Markesbery-Griggs type",Cases/families,Case(s),,11.0,Worldwide
98911,Distal myotilinopathy,Point prevalence,Value and class,1-9 / 100 000,3.9,Europe
98916,Acute inflammatory demyelinating polyradiculoneuropathy,Point prevalence,Value and class,1-9 / 100 000,3.1,Europe
98908,Neutral lipid storage disease with myopathy,Cases/families,Case(s),,36.0,Worldwide
98908,Neutral lipid storage disease with myopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98907,Neutral lipid storage disease with ichthyosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
98909,Desminopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
98933,"Multiple system atrophy, parkinsonian type",Point prevalence,Value and class,1-9 / 100 000,2.4,Europe
98934,Huntington disease-like 2,Cases/families,Family(ies),,50.0,Worldwide
98934,Huntington disease-like 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98919,Miller Fisher syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
98919,Miller Fisher syndrome,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
98920,Spinal muscular atrophy with respiratory distress type 1,Cases/families,Case(s),,128.0,Worldwide
98920,Spinal muscular atrophy with respiratory distress type 1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98938,Colobomatous microphthalmia,Prevalence at birth,Value and class,1-5 / 10 000,19.0,United Kingdom
98938,Colobomatous microphthalmia,Point prevalence,Value and class,1-5 / 10 000,19.0,United Kingdom
98949,Complete cryptophthalmia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98949,Complete cryptophthalmia,Cases/families,Case(s),,15.0,Worldwide
98950,Partial cryptophthalmia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98948,Congenital symblepharon,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98957,Gelatinous drop-like corneal dystrophy,Point prevalence,Value and class,1-9 / 1 000 000,0.33,Japan
98957,Gelatinous drop-like corneal dystrophy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
98955,Lisch epithelial corneal dystrophy,Cases/families,Case(s),,36.0,Worldwide
98955,Lisch epithelial corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98954,Meesmann corneal dystrophy,Cases/families,Case(s),,250.0,Worldwide
98954,Meesmann corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98964,Lattice corneal dystrophy type I,Point prevalence,Class only,Unknown,0.0,Worldwide
98963,Granular corneal dystrophy type II,Point prevalence,Class only,Unknown,0.0,Worldwide
98962,Granular corneal dystrophy type I,Point prevalence,Class only,Unknown,0.0,Worldwide
98961,Reis-Bücklers corneal dystrophy,Cases/families,Case(s),,81.0,Worldwide
98961,Reis-Bücklers corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98960,Thiel-Behnke corneal dystrophy,Cases/families,Case(s),,173.0,Worldwide
98960,Thiel-Behnke corneal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
98959,Subepithelial mucinous corneal dystrophy,Cases/families,Family(ies),,1.0,Worldwide
98959,Subepithelial mucinous corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98971,Posterior amorphous corneal dystrophy,Cases/families,Family(ies),,11.0,Worldwide
98971,Posterior amorphous corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98972,Central cloudy dystrophy of François,Cases/families,Case(s),,24.0,Worldwide
98972,Central cloudy dystrophy of François,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98973,Posterior polymorphous corneal dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.0,Czech Republic
98973,Posterior polymorphous corneal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
98974,Fuchs endothelial corneal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
98967,Schnyder corneal dystrophy,Cases/families,Case(s),,115.0,Worldwide
98967,Schnyder corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98969,Macular corneal dystrophy,Point prevalence,Value and class,1-9 / 100 000,1.0,United States
98969,Macular corneal dystrophy,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
98970,Fleck corneal dystrophy,Cases/families,Case(s),,30.0,Worldwide
98970,Fleck corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,2.2,Europe
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Belgium
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,6.6,France
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Malta
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Italy
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,5.6,Netherlands
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 1 000 000,0.8,Norway
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 1 000 000,0.9,Portugal
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,6.5,Spain
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,2.2,United Kingdom
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,3.0,Ukraine
98976,Congenital glaucoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,1.5,Switzerland
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Poland
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,4.1,Ireland
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,4.1,Germany
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,2.8,Croatia
98976,Congenital glaucoma,Prevalence at birth,Value and class,1-9 / 100 000,3.4,Austria
98977,Juvenile glaucoma,Point prevalence,Value and class,1-9 / 100 000,2.0,United States
98978,Axenfeld anomaly,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Worldwide
99001,Butterfly-shaped pigment dystrophy,Cases/families,Case(s),,33.0,Worldwide
99001,Butterfly-shaped pigment dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99002,Reticular dystrophy of the retinal pigment epithelium,Cases/families,Case(s),,9.0,Worldwide
99002,Reticular dystrophy of the retinal pigment epithelium,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99000,Adult-onset foveomacular vitelliform dystrophy,Point prevalence,Class only,Unknown,0.0,Europe
99003,Multifocal pattern dystrophy simulating fundus flavimaculatus,Point prevalence,Class only,Unknown,0.0,Worldwide
99013,Spastic paraplegia type 7,Point prevalence,Class only,Unknown,0.0,Worldwide
99014,X-linked Charcot-Marie-Tooth disease type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99014,X-linked Charcot-Marie-Tooth disease type 5,Cases/families,Case(s),,9.0,Worldwide
99015,Spastic paraplegia type 2,Cases/families,Case(s),,100.0,Worldwide
99015,Spastic paraplegia type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
585867,Acute myeloid leukemia with t(9;22)(q34.1;q11.2),Annual incidence,Value and class,1-9 / 100 000,4.0,Worldwide
585877,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,Annual incidence,Class only,Unknown,0.0,Worldwide
585877,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,Point prevalence,Class only,Unknown,0.0,Worldwide
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),Annual incidence,Class only,Unknown,0.0,Worldwide
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),Point prevalence,Class only,Unknown,0.0,Worldwide
585936,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,Annual incidence,Class only,Unknown,0.0,Worldwide
585936,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,Point prevalence,Class only,Unknown,0.0,Worldwide
585942,B-lymphoblastic leukemia/lymphoma with hypodiploidy,Annual incidence,Class only,Unknown,0.0,Worldwide
585942,B-lymphoblastic leukemia/lymphoma with hypodiploidy,Point prevalence,Class only,Unknown,0.0,Worldwide
585918,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),Annual incidence,Class only,Unknown,0.0,Worldwide
585918,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),Point prevalence,Class only,Unknown,0.0,Worldwide
585929,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),Annual incidence,Class only,Unknown,0.0,Worldwide
585929,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),Point prevalence,Class only,Unknown,0.0,Worldwide
99027,Adult-onset autosomal dominant leukodystrophy,Cases/families,Family(ies),,20.0,Worldwide
99027,Adult-onset autosomal dominant leukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
585956,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),Annual incidence,Class only,Unknown,0.0,Worldwide
585956,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),Point prevalence,Class only,Unknown,0.0,Worldwide
585948,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),Annual incidence,Class only,Unknown,0.0,Western Asia
585948,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),Point prevalence,Class only,Unknown,0.0,Worldwide
586130,Sporadic fatal insomnia,Cases/families,Case(s),,27.0,Worldwide
586130,Sporadic fatal insomnia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99042,Congenitally uncorrected transposition of the great arteries with coarctation,Point prevalence,Class only,Unknown,0.0,Worldwide
99050,Abnormal origin of right or left pulmonary artery from the aorta,Cases/families,Case(s),,200.0,Worldwide
99050,Abnormal origin of right or left pulmonary artery from the aorta,Point prevalence,Class only,Unknown,0.0,Worldwide
98606,Syndromic orbital border hypoplasia,Cases/families,Family(ies),,2.0,Worldwide
98606,Syndromic orbital border hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,8.3,Europe
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Belgium
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Belgium
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,9.8,Austria
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Austria
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,36.4,Denmark
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Denmark
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,7.3,France
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,France
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Germany
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Germany
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,17.7,Hungary
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Hungary
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Ireland
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Ireland
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,11.0,Italy
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Italy
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,25.9,Malta
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Malta
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,11.1,Netherlands
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Netherlands
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,6.4,Norway
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Norway
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,2.4,Poland
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Poland
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,13.1,Croatia
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Croatia
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,14.4,Spain
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Spain
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,12.3,Switzerland
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Switzerland
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,3.9,United Kingdom
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,United Kingdom
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,12.9,Ukraine
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,Ukraine
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-9 / 100 000,5.2,Portugal
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-9 / 100 000,0.0,Portugal
98555,Microphthalmia-anophthalmia-coloboma,Prevalence at birth,Value and class,1-5 / 10 000,18.0,United States
98555,Microphthalmia-anophthalmia-coloboma,Point prevalence,Class only,1-5 / 10 000,0.0,United States
98676,Autosomal recessive isolated optic atrophy,Cases/families,Case(s),,5.0,Worldwide
98676,Autosomal recessive isolated optic atrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98673,"Autosomal dominant optic atrophy, classic form",Point prevalence,Value and class,1-9 / 100 000,2.0,Worldwide
98673,"Autosomal dominant optic atrophy, classic form",Point prevalence,Value and class,1-5 / 10 000,10.0,Denmark
98673,"Autosomal dominant optic atrophy, classic form",Point prevalence,Value and class,1-9 / 100 000,2.86,United Kingdom
98673,"Autosomal dominant optic atrophy, classic form",Point prevalence,Value and class,6-9 / 10 000,83.33,Specific population
98672,Autosomal dominant optic atrophy,Point prevalence,Value and class,1-5 / 10 000,10.0,Denmark
98672,Autosomal dominant optic atrophy,Point prevalence,Value and class,1-9 / 100 000,2.5,United Kingdom
98672,Autosomal dominant optic atrophy,Point prevalence,Value and class,1-9 / 100 000,3.3,Worldwide
98672,Autosomal dominant optic atrophy,Point prevalence,Value and class,6-9 / 10 000,83.0,Specific population
98627,Posterior corneal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
98626,Stromal corneal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
98625,Superficial corneal dystrophy,Point prevalence,Value and class,1-5 / 10 000,13.8,United States
98625,Superficial corneal dystrophy,Point prevalence,Class only,Unknown,0.0,Worldwide
583595,"Serine biosynthesis pathway deficiency, infantile/juvenile form",Cases/families,Case(s),,23.0,Worldwide
583595,"Serine biosynthesis pathway deficiency, infantile/juvenile form",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
583856,Isolated splenic vein thrombosis,Annual incidence,Class only,Unknown,0.0,Worldwide
583856,Isolated splenic vein thrombosis,Point prevalence,Class only,Unknown,0.0,Worldwide
583861,Isolated mesenteric vein thrombosis,Annual incidence,Value and class,1-9 / 100 000,1.6,Europe
583861,Isolated mesenteric vein thrombosis,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Finland
583861,Isolated mesenteric vein thrombosis,Annual incidence,Value and class,1-9 / 100 000,2.7,Sweden
583861,Isolated mesenteric vein thrombosis,Point prevalence,Class only,Unknown,0.0,Europe
98715,Uveitis,Annual incidence,Value and class,1-5 / 10 000,17.0,Europe
98715,Uveitis,Point prevalence,Value and class,1-5 / 10 000,38.0,Europe
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Europe
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.9,Belgium
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,19.8,Denmark
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,2.0,France
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Germany
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.3,Hungary
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.6,Ireland
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.4,Italy
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,24.1,Malta
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,5.8,Netherlands
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,6.5,Norway
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.5,Poland
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-5 / 10 000,12.6,Switzerland
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,3.9,United Kingdom
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,9.5,Ukraine
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 1 000 000,0.6,Spain
98723,Hypoplastic right heart syndrome,Prevalence at birth,Value and class,1-9 / 100 000,1.68,United States
583097,Congenital infiltrating lipomatosis of the face,Cases/families,Case(s),,59.0,Worldwide
583097,Congenital infiltrating lipomatosis of the face,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,Cases/families,Case(s),,20.0,Worldwide
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98806,"Primary dystonia, DYT6 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98806,"Primary dystonia, DYT6 type",Cases/families,Case(s),,53.0,Worldwide
98805,"Primary dystonia, DYT4 type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98805,"Primary dystonia, DYT4 type",Cases/families,Case(s),,22.0,Worldwide
98784,Sleep-related hypermotor epilepsy,Cases/families,Family(ies),,100.0,Worldwide
98784,Sleep-related hypermotor epilepsy,Point prevalence,Class only,Unknown,0.0,Europe
98764,Spinocerebellar ataxia type 27A,Cases/families,Case(s),,30.0,Worldwide
98764,Spinocerebellar ataxia type 27A,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98763,Spinocerebellar ataxia type 14,Cases/families,Family(ies),,20.0,Worldwide
98763,Spinocerebellar ataxia type 14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98766,Spinocerebellar ataxia type 5,Cases/families,Family(ies),,5.0,Worldwide
98766,Spinocerebellar ataxia type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98765,Spinocerebellar ataxia type 4,Point prevalence,Class only,Unknown,0.0,Worldwide
98760,Spinocerebellar ataxia type 8,Point prevalence,Class only,Unknown,0.0,Worldwide
98759,Spinocerebellar ataxia type 17,Cases/families,Family(ies),,100.0,Worldwide
98759,Spinocerebellar ataxia type 17,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98759,Spinocerebellar ataxia type 17,Point prevalence,Value and class,<1 / 1 000 000,0.047,Japan
98759,Spinocerebellar ataxia type 17,Point prevalence,Value and class,1-9 / 1 000 000,0.16,United Kingdom
98762,Spinocerebellar ataxia type 12,Cases/families,Family(ies),,40.0,Worldwide
98762,Spinocerebellar ataxia type 12,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98761,Spinocerebellar ataxia type 10,Point prevalence,Class only,Unknown,0.0,Worldwide
98772,Spinocerebellar ataxia type 19/22,Cases/families,Case(s),,12.0,Worldwide
98772,Spinocerebellar ataxia type 19/22,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98771,Spinocerebellar ataxia type 18,Cases/families,Case(s),,26.0,Worldwide
98771,Spinocerebellar ataxia type 18,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98773,Spinocerebellar ataxia type 21,Cases/families,Case(s),,35.0,Worldwide
98773,Spinocerebellar ataxia type 21,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98768,Spinocerebellar ataxia type 13,Cases/families,Case(s),,20.0,Worldwide
98768,Spinocerebellar ataxia type 13,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98767,Spinocerebellar ataxia type 11,Cases/families,Case(s),,51.0,Worldwide
98767,Spinocerebellar ataxia type 11,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98769,Spinocerebellar ataxia type 15/16,Cases/families,Case(s),,80.0,Worldwide
98769,Spinocerebellar ataxia type 15/16,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
580940,QRICH1-related intellectual disability-chondrodysplasia syndrome,Cases/families,Case(s),,9.0,Worldwide
580940,QRICH1-related intellectual disability-chondrodysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
580951,Punctate inner choroidopathy,Annual incidence,Class only,1-9 / 1 000 000,0.0,Worldwide
580933,Lethal brain and heart developmental defects,Cases/families,Case(s),,4.0,Worldwide
580933,Lethal brain and heart developmental defects,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98755,Spinocerebellar ataxia type 1,Point prevalence,Value and class,1-9 / 100 000,1.5,Worldwide
98756,Spinocerebellar ataxia type 2,Point prevalence,Value and class,1-9 / 100 000,1.5,Worldwide
98757,Spinocerebellar ataxia type 3,Point prevalence,Value and class,1-9 / 100 000,1.5,Worldwide
98757,Spinocerebellar ataxia type 3,Point prevalence,Value and class,1-9 / 100 000,1.0,Portugal
98757,Spinocerebellar ataxia type 3,Point prevalence,Value and class,1-9 / 100 000,5.5,Japan
98758,Spinocerebellar ataxia type 6,Point prevalence,Class only,1-9 / 1 000 000,0.0,Worldwide
98758,Spinocerebellar ataxia type 6,Point prevalence,Value and class,1-9 / 100 000,1.7,Japan
580572,Intraductal tubulopapillary neoplasm of pancreas,Annual incidence,Class only,Unknown,0.0,Worldwide
98306,Familial partial lipodystrophy,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
576074,Middle East respiratory syndrome,Cases/families,Case(s),,2613.0,Worldwide
576074,Middle East respiratory syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
576379,Iatrogenic Creutzfeldt-Jakob disease,Cases/families,Case(s),,516.0,Worldwide
576379,Iatrogenic Creutzfeldt-Jakob disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
576349,NLRC4-related familial cold autoinflammatory syndrome,Cases/families,Case(s),,26.0,Worldwide
576349,NLRC4-related familial cold autoinflammatory syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
576370,Variant Creutzfeldt-Jakob disease,Cases/families,Case(s),,233.0,Worldwide
576370,Variant Creutzfeldt-Jakob disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
576278,SATB2-associated syndrome,Cases/families,Case(s),,667.0,Worldwide
576278,SATB2-associated syndrome,Point prevalence,Value and class,1-9 / 100 000,4.2,Worldwide
573253,Split cord malformation type II,Point prevalence,Class only,Unknown,0.0,Worldwide
574957,Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
574918,Predisposition to severe viral infection due to IRF7 deficiency,Cases/families,Family(ies),,1.0,Worldwide
574918,Predisposition to severe viral infection due to IRF7 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98375,Autoimmune hemolytic anemia,Annual incidence,Value and class,1-9 / 100 000,2.02,Europe
98375,Autoimmune hemolytic anemia,Annual incidence,Value and class,1-9 / 100 000,2.02,United States
98375,Autoimmune hemolytic anemia,Point prevalence,Value and class,1-5 / 10 000,11.0,Denmark
98375,Autoimmune hemolytic anemia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
573278,Split cord malformation,Point prevalence,Class only,Unknown,0.0,Worldwide
98482,Idiopathic inflammatory myopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
572385,Brachydactyly type B1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572361,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
98428,Secondary polycythemia,Point prevalence,Class only,Unknown,0.0,Worldwide
572428,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,Cases/families,Case(s),,5.0,Worldwide
572428,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,Cases/families,Case(s),,272.0,Worldwide
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572543,RFVT2-related riboflavin transporter deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572550,RFVT3-related riboflavin transporter deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572773,Microcephaly-short stature-limb abnormalities syndrome,Cases/families,Case(s),,29.0,Worldwide
572773,Microcephaly-short stature-limb abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572798,WARS2-related combined oxidative phosphorylation defect,Cases/families,Case(s),,11.0,Worldwide
572798,WARS2-related combined oxidative phosphorylation defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572761,DONSON-related microcephaly-short stature-limb abnormalities spectrum,Cases/families,Case(s),,51.0,Worldwide
572761,DONSON-related microcephaly-short stature-limb abnormalities spectrum,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572768,Microcephaly-micromelia syndrome,Cases/families,Case(s),,32.0,Worldwide
572768,Microcephaly-micromelia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
98523,Non-syndromic pontocerebellar hypoplasia,Point prevalence,Class only,Unknown,0.0,Worldwide
572013,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,Cases/families,Case(s),,8.0,Worldwide
572013,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
572333,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,Point prevalence,Class only,Unknown,0.0,Worldwide
572354,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
570762,Infective endocarditis,Point prevalence,Class only,Unknown,0.0,Europe
570762,Infective endocarditis,Annual incidence,Value and class,1-9 / 100 000,3.38,France
570762,Infective endocarditis,Annual incidence,Value and class,1-9 / 100 000,1.8,Denmark
570762,Infective endocarditis,Annual incidence,Class only,1-9 / 100 000,0.0,Europe
570491,QRSL1-related combined oxidative phosphorylation defect,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
570470,Ricin poisoning,Point prevalence,Class only,Unknown,0.0,Worldwide
570470,Ricin poisoning,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
570438,HHV-8-associated multicentric Castleman disease,Point prevalence,Class only,Unknown,0.0,Worldwide
570431,Idiopathic multicentric Castleman disease,Point prevalence,Class only,Unknown,0.0,Worldwide
570431,Idiopathic multicentric Castleman disease,Annual incidence,Class only,1-9 / 1 000 000,0.0,United States
570422,Galactose mutarotase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
570422,Galactose mutarotase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
570422,Galactose mutarotase deficiency,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Worldwide
570422,Galactose mutarotase deficiency,Annual incidence,Value and class,1-9 / 100 000,1.2,Japan
570371,Bartter syndrome type 5,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
570371,Bartter syndrome type 5,Cases/families,Case(s),,15.0,Worldwide
98497,Genetic peripheral neuropathy,Point prevalence,Value and class,1-5 / 10 000,40.0,Worldwide
708684,Eosinophilic cystitis,Cases/families,Case(s),,200.0,Worldwide
708684,Eosinophilic cystitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.588,Europe
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.517,Austria
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.734,Belgium
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.174,Bulgaria
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.308,Croatia
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.464,Czech Republic
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.36,Estonia
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.574,Finland
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.657,France
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.551,Germany
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.724,Iceland
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.564,Ireland
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.79,Italy
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.265,Latvia
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.277,Lithuania
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.377,Malta
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.788,Norway
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.219,Poland
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.743,Portugal
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.462,Slovakia
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Slovenia
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.477,Spain
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.76,Switzerland
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.626,Netherlands
104075,Adenocarcinoma of the small intestine,Annual incidence,Value and class,1-9 / 1 000 000,0.679,United Kingdom
104008,Short bowel syndrome,Point prevalence,Value and class,1-9 / 100 000,2.0,Europe
103918,Tropical pancreatitis,Point prevalence,Class only,Unknown,0.0,Worldwide
103910,Congenital enterocyte heparan sulfate deficiency,Cases/families,Case(s),,3.0,Worldwide
103910,Congenital enterocyte heparan sulfate deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
103908,Congenital sodium diarrhea,Cases/families,Case(s),,50.0,Worldwide
103908,Congenital sodium diarrhea,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
103909,Trehalase deficiency,Annual incidence,Value and class,>1 / 1000,7700.0,Greenland
103909,Trehalase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
103907,Chronic diarrhea due to glucoamylase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
101997,Primary immunodeficiency,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,6.8,Norway
101997,Primary immunodeficiency,Point prevalence,Value and class,1-5 / 10 000,11.0,France
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,3.6,Spain
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,2.6,Netherlands
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,1.84,United Kingdom
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,1.79,Italy
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,1.38,Germany
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,2.0,Turkey
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,1.33,Poland
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,5.6,Australia
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,4.9,New Zealand
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,1.1,"Korea, Republic of"
101997,Primary immunodeficiency,Point prevalence,Value and class,1-9 / 100 000,4.5,Oman
101685,Rare non-syndromic intellectual disability,Point prevalence,Class only,Unknown,0.0,Worldwide
101685,Rare non-syndromic intellectual disability,Annual incidence,Class only,Unknown,0.0,Worldwide
101959,Chronic primary adrenal insufficiency,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Europe
101959,Chronic primary adrenal insufficiency,Point prevalence,Value and class,1-5 / 10 000,14.0,Europe
101150,Autosomal recessive dopa-responsive dystonia,Cases/families,Case(s),,50.0,Worldwide
101150,Autosomal recessive dopa-responsive dystonia,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
101111,Spinocerebellar ataxia type 25,Cases/families,Case(s),,10.0,Worldwide
101111,Spinocerebellar ataxia type 25,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101112,Spinocerebellar ataxia type 26,Cases/families,Family(ies),,1.0,Worldwide
101112,Spinocerebellar ataxia type 26,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101109,Spinocerebellar ataxia type 28,Point prevalence,Class only,Unknown,0.0,Worldwide
101110,Spinocerebellar ataxia type 20,Cases/families,Case(s),,20.0,Worldwide
101110,Spinocerebellar ataxia type 20,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101108,Spinocerebellar ataxia type 23,Cases/families,Family(ies),,4.0,Worldwide
101108,Spinocerebellar ataxia type 23,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
664912,Neonatal renal venous thrombosis,Annual incidence,Value and class,1-9 / 1 000 000,0.11,Germany
664912,Neonatal renal venous thrombosis,Annual incidence,Value and class,1-9 / 1 000 000,0.13,Canada
664912,Neonatal renal venous thrombosis,Point prevalence,Class only,Unknown,0.0,Worldwide
664787,Nicolau syndrome,Cases/families,Case(s),,240.0,Worldwide
664787,Nicolau syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101330,Porphyria cutanea tarda,Annual incidence,Value and class,1-9 / 1 000 000,0.6,Europe
101330,Porphyria cutanea tarda,Point prevalence,Value and class,1-9 / 100 000,4.0,Europe
101330,Porphyria cutanea tarda,Annual incidence,Value and class,1-9 / 100 000,1.0,Norway
101330,Porphyria cutanea tarda,Point prevalence,Value and class,1-5 / 10 000,10.0,Sweden
664901,Trigeminal trophic syndrome,Cases/families,Case(s),,200.0,Worldwide
664901,Trigeminal trophic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
664729,EBV-induced lymphoproliferative disease due to TET2 deficiency,Cases/families,Case(s),,3.0,Worldwide
664729,EBV-induced lymphoproliferative disease due to TET2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
664726,EBV-induced lymphoproliferative disease due to CD137 deficiency,Cases/families,Case(s),,2.0,Worldwide
664726,EBV-induced lymphoproliferative disease due to CD137 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101085,Charcot-Marie-Tooth disease type 1F,Point prevalence,Class only,Unknown,0.0,Worldwide
662456,Isolated small intestine duplication,Cases/families,Case(s),,27.0,Worldwide
662456,Isolated small intestine duplication,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101081,Charcot-Marie-Tooth disease type 1A,Point prevalence,Value and class,6-9 / 10 000,82.37,Norway
101081,Charcot-Marie-Tooth disease type 1A,Point prevalence,Value and class,1-5 / 10 000,15.2,United Kingdom
101081,Charcot-Marie-Tooth disease type 1A,Point prevalence,Class only,1-5 / 10 000,0.0,Worldwide
662376,Isolated gastric duplication,Prevalence at birth,Value and class,1-9 / 100 000,1.7,Worldwide
662376,Isolated gastric duplication,Point prevalence,Value and class,1-9 / 100 000,1.7,Worldwide
101082,Charcot-Marie-Tooth disease type 1B,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
662405,Isolated pyloric duplication,Cases/families,Case(s),,18.0,Worldwide
662405,Isolated pyloric duplication,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101083,Charcot-Marie-Tooth disease type 1C,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
662240,Frey syndrome,Cases/families,Case(s),,121.0,Worldwide
662240,Frey syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
101077,X-linked Charcot-Marie-Tooth disease type 3,Cases/families,Family(ies),,4.0,Worldwide
101077,X-linked Charcot-Marie-Tooth disease type 3,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101078,X-linked Charcot-Marie-Tooth disease type 4,Cases/families,Case(s),,7.0,Worldwide
101078,X-linked Charcot-Marie-Tooth disease type 4,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662234,Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome,Cases/families,Case(s),,35.0,Worldwide
662234,Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662367,NESCAV syndrome,Cases/families,Case(s),,45.0,Worldwide
662367,NESCAV syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662255,Grisel syndrome,Cases/families,Case(s),,173.0,Worldwide
662255,Grisel syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662216,Mucopolysaccharidosis type 10,Cases/families,Case(s),,6.0,Worldwide
662216,Mucopolysaccharidosis type 10,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662207,Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome,Cases/families,Case(s),,6.0,Worldwide
662207,Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101075,X-linked Charcot-Marie-Tooth disease type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
101076,X-linked Charcot-Marie-Tooth disease type 2,Cases/families,Case(s),,5.0,Worldwide
101076,X-linked Charcot-Marie-Tooth disease type 2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101102,Charcot-Marie-Tooth disease type 2H,Cases/families,Case(s),,13.0,Worldwide
101102,Charcot-Marie-Tooth disease type 2H,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101101,Charcot-Marie-Tooth disease type 2B2,Cases/families,Family(ies),,1.0,Worldwide
101101,Charcot-Marie-Tooth disease type 2B2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101097,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,Point prevalence,Class only,Unknown,0.0,Worldwide
675362,Hobnail hemangioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
675359,Anastomosing haemangioma,Cases/families,Case(s),,32.0,Worldwide
675359,Anastomosing haemangioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
675369,Microvenular haemangioma,Cases/families,Case(s),,68.0,Worldwide
675369,Microvenular haemangioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
674943,Isolated angioid streaks,Point prevalence,Class only,Unknown,0.0,Worldwide
674935,Torpedo Maculopathy,Cases/families,Case(s),,80.0,Worldwide
674935,Torpedo Maculopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101041,Familial hypofibrinogenemia,Point prevalence,Class only,Unknown,0.0,Worldwide
674965,Choroidal osteoma,Cases/families,Case(s),,61.0,Worldwide
674965,Choroidal osteoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
674958,Stellate multiform amelanotic choroidopathy,Cases/families,Case(s),,18.0,Worldwide
674958,Stellate multiform amelanotic choroidopathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101046,Epilepsy with auditory features,Point prevalence,Class only,Unknown,0.0,Worldwide
101068,Congenital stromal corneal dystrophy,Cases/families,Family(ies),,6.0,Worldwide
101068,Congenital stromal corneal dystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
675767,Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency,Cases/families,Case(s),,26.0,Worldwide
675767,Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
675597,Acquired elastotic haemangioma,Cases/families,Case(s),,45.0,Worldwide
675597,Acquired elastotic haemangioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101009,Autosomal dominant spastic paraplegia type 29,Cases/families,Family(ies),,1.0,Worldwide
101009,Autosomal dominant spastic paraplegia type 29,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101010,Autosomal spastic paraplegia type 30,Cases/families,Family(ies),,3.0,Worldwide
101010,Autosomal spastic paraplegia type 30,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101011,Autosomal dominant spastic paraplegia type 31,Point prevalence,Class only,Unknown,0.0,Worldwide
101016,Romano-Ward syndrome,Point prevalence,Value and class,1-5 / 10 000,40.0,Europe
101028,Transaldolase deficiency,Cases/families,Case(s),,23.0,Worldwide
101028,Transaldolase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100984,Autosomal dominant spastic paraplegia type 3,Point prevalence,Value and class,1-9 / 1 000 000,0.14,Portugal
100984,Autosomal dominant spastic paraplegia type 3,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
685017,Combined immunodeficiency due to TBX1 deficiency,Cases/families,Case(s),,195.0,Worldwide
685017,Combined immunodeficiency due to TBX1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
685004,Primary pericardial mesothelioma,Point prevalence,Class only,Unknown,0.0,Worldwide
100980,Autosomal dominant pure spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,4.4,Norway
100980,Autosomal dominant pure spastic paraplegia,Point prevalence,Value and class,1-9 / 1 000 000,0.9,Ireland
100980,Autosomal dominant pure spastic paraplegia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
685010,Mesothelioma of the tunica vaginalis,Cases/families,Case(s),,289.0,Worldwide
685010,Mesothelioma of the tunica vaginalis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100979,Autosomal dominant complex spastic paraplegia,Point prevalence,Value and class,1-9 / 100 000,1.0,Norway
100979,Autosomal dominant complex spastic paraplegia,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
100978,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100991,Autosomal dominant spastic paraplegia type 10,Cases/families,Family(ies),,10.0,Worldwide
100991,Autosomal dominant spastic paraplegia type 10,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100989,Autosomal dominant spastic paraplegia type 8,Cases/families,Family(ies),,10.0,Worldwide
100989,Autosomal dominant spastic paraplegia type 8,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100988,Autosomal dominant spastic paraplegia type 6,Cases/families,Family(ies),,10.0,Worldwide
100988,Autosomal dominant spastic paraplegia type 6,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100986,Autosomal recessive spastic paraplegia type 5A,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
100985,Autosomal dominant spastic paraplegia type 4,Point prevalence,Value and class,1-9 / 1 000 000,0.91,Portugal
100999,Autosomal dominant spastic paraplegia type 19,Cases/families,Family(ies),,1.0,Worldwide
100999,Autosomal dominant spastic paraplegia type 19,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101000,Autosomal recessive spastic paraplegia type 20,Cases/families,Case(s),,36.0,Worldwide
101000,Autosomal recessive spastic paraplegia type 20,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
686999,Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome,Cases/families,Case(s),,7.0,Worldwide
686999,Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100997,X-linked spastic paraplegia type 16,Cases/families,Family(ies),,1.0,Worldwide
100997,X-linked spastic paraplegia type 16,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100998,Autosomal dominant spastic paraplegia type 17,Cases/families,Family(ies),,20.0,Worldwide
100998,Autosomal dominant spastic paraplegia type 17,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100995,Autosomal recessive spastic paraplegia type 14,Cases/families,Family(ies),,1.0,Worldwide
100995,Autosomal recessive spastic paraplegia type 14,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
686495,MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome,Cases/families,Case(s),,14.0,Worldwide
686495,MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100996,Kjellin syndrome,Cases/families,Family(ies),,10.0,Worldwide
100996,Kjellin syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
686488,RNU4-2-related autosomal dominant neurodevelopmental disorder,Cases/families,Case(s),,189.0,Worldwide
686488,RNU4-2-related autosomal dominant neurodevelopmental disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100993,Autosomal dominant spastic paraplegia type 12,Cases/families,Case(s),,27.0,Worldwide
100993,Autosomal dominant spastic paraplegia type 12,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
686482,BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome,Cases/families,Case(s),,49.0,Worldwide
686482,BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100994,Autosomal dominant spastic paraplegia type 13,Cases/families,Case(s),,10.0,Worldwide
100994,Autosomal dominant spastic paraplegia type 13,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101007,Autosomal recessive spastic paraplegia type 27,Cases/families,Case(s),,10.0,Worldwide
101007,Autosomal recessive spastic paraplegia type 27,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101008,Autosomal recessive spastic paraplegia type 28,Cases/families,Case(s),,7.0,Worldwide
101008,Autosomal recessive spastic paraplegia type 28,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101005,Autosomal recessive spastic paraplegia type 25,Cases/families,Family(ies),,1.0,Worldwide
101005,Autosomal recessive spastic paraplegia type 25,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101006,Autosomal recessive spastic paraplegia type 26,Cases/families,Family(ies),,10.0,Worldwide
101006,Autosomal recessive spastic paraplegia type 26,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101003,Autosomal recessive spastic paraplegia type 23,Cases/families,Family(ies),,5.0,Worldwide
101003,Autosomal recessive spastic paraplegia type 23,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101004,Autosomal recessive spastic paraplegia type 24,Cases/families,Family(ies),,1.0,Worldwide
101004,Autosomal recessive spastic paraplegia type 24,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
101001,Autosomal recessive spastic paraplegia type 21,Cases/families,Case(s),,35.0,Worldwide
101001,Autosomal recessive spastic paraplegia type 21,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,3.65,Europe
100088,Rare thyroid carcinoma,Lifetime Prevalence,Value and class,6-9 / 10 000,61.7,Europe
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-5 / 10 000,12.2,United States
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,3.1,Worldwide
100088,Rare thyroid carcinoma,Point prevalence,Value and class,1-5 / 10 000,12.7,Worldwide
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.733,United Kingdom
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-5 / 10 000,12.86,Italy
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,7.679,Austria
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,3.74,Belgium
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.921,Bulgaria
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,8.329,Croatia
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,6.382,Czech Republic
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,4.803,Estonia
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,6.375,Finland
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.526,Germany
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.45,Ireland
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,4.563,Latvia
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,7.905,Lithuania
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,6.344,Malta
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,4.472,Norway
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,4.488,Poland
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,8.628,Portugal
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,3.991,Slovakia
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.649,Slovenia
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,5.162,Spain
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,6.39,Switzerland
100088,Rare thyroid carcinoma,Annual incidence,Value and class,1-9 / 100 000,2.373,Netherlands
100085,Primary hepatic neuroendocrine carcinoma,Annual incidence,Value and class,1-9 / 1 000 000,0.2,Worldwide
100085,Primary hepatic neuroendocrine carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
675775,Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome,Cases/families,Case(s),,3.0,Worldwide
675775,Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
675782,Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN,Cases/families,Case(s),,6.0,Worldwide
675782,Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100087,Rare thyroid tumor,Annual incidence,Value and class,1-9 / 100 000,3.2,Worldwide
100087,Rare thyroid tumor,Annual incidence,Value and class,1-9 / 100 000,5.0,Europe
100087,Rare thyroid tumor,Annual incidence,Value and class,1-9 / 100 000,5.7,Italy
100087,Rare thyroid tumor,Annual incidence,Value and class,1-9 / 100 000,5.35,France
676039,Combined immunodeficiency due to FOXN1 haploinsufficiency,Cases/families,Case(s),,21.0,Worldwide
676039,Combined immunodeficiency due to FOXN1 haploinsufficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
676125,X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency,Cases/families,Case(s),,4.0,Worldwide
676125,X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100924,Porphyria due to ALA dehydratase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
684216,Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome,Cases/families,Case(s),,5.0,Worldwide
684216,Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
684305,Neurooculocardiogenitourinary syndrome,Cases/families,Case(s),,9.0,Worldwide
684305,Neurooculocardiogenitourinary syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100973,FRAXE intellectual disability,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
100974,FRAXF syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
684290,Hypertrophic olivary degeneration,Cases/families,Case(s),,158.0,Worldwide
684290,Hypertrophic olivary degeneration,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
684752,Isolated anal canal duplication,Cases/families,Case(s),,100.0,Worldwide
684752,Isolated anal canal duplication,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100976,Bathing suit ichthyosis,Cases/families,Case(s),,20.0,Worldwide
100976,Bathing suit ichthyosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
684232,Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome,Cases/families,Case(s),,41.0,Worldwide
684232,Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
684226,Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome,Cases/families,Case(s),,7.0,Worldwide
684226,Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
684240,Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome,Cases/families,Case(s),,24.0,Worldwide
684240,Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100054,F12-related hereditary angioedema with normal C1Inh,Point prevalence,Class only,Unknown,0.0,Worldwide
100051,Hereditary angioedema type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
100057,Renin-angiotensin-aldosterone system-blocker-induced angioedema,Point prevalence,Class only,Unknown,0.0,Worldwide
692173,Marbach-Schaaf neurodevelopmental syndrome,Cases/families,Case(s),,13.0,Worldwide
692173,Marbach-Schaaf neurodevelopmental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
692271,Cerebral proliferative angiopathy,Point prevalence,Value and class,1-9 / 1 000 000,0.6,Worldwide
692193,CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome,Cases/families,Case(s),,37.0,Worldwide
692193,CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
692256,Isolated anogenital granulomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
692812,RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome,Cases/families,Family(ies),,37.0,Worldwide
692812,RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
692305,Triglyceride deposit cardiomyovasculopathy,Cases/families,Case(s),,991.0,Japan
692305,Triglyceride deposit cardiomyovasculopathy,Point prevalence,Class only,Unknown,0.0,Worldwide
692790,ATP6AP1-CDG,Cases/families,Case(s),,17.0,Worldwide
692790,ATP6AP1-CDG,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100069,Semantic dementia,Cases/families,Case(s),,49.0,Worldwide
100069,Semantic dementia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100070,Progressive non-fluent aphasia,Point prevalence,Value and class,1-9 / 100 000,2.5,Europe
100070,Progressive non-fluent aphasia,Annual incidence,Value and class,1-9 / 1 000 000,0.7,Europe
100073,Neurogenic thoracic outlet syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
100075,Neuroendocrine tumor of stomach,Point prevalence,Value and class,1-9 / 100 000,3.2,Europe
100075,Neuroendocrine tumor of stomach,Point prevalence,Value and class,1-9 / 100 000,1.7,United States
100075,Neuroendocrine tumor of stomach,Point prevalence,Value and class,1-9 / 1 000 000,0.7,United Kingdom
100075,Neuroendocrine tumor of stomach,Point prevalence,Value and class,1-9 / 1 000 000,0.5,Japan
100071,Mosaic trisomy 3 syndrome,Cases/families,Case(s),,6.0,Worldwide
100071,Mosaic trisomy 3 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100020,Myelodysplastic neoplasm with increased blasts type 2,Point prevalence,Class only,Unknown,0.0,Worldwide
100019,Myelodysplastic neoplasm with increased blasts type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
688581,Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome,Cases/families,Case(s),,6.0,Worldwide
688581,Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
688594,Combined immunodeficiency due to RELB deficiency,Cases/families,Case(s),,5.0,Worldwide
688594,Combined immunodeficiency due to RELB deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100022,Extramedullary soft tissue plasmacytoma,Annual incidence,Value and class,1-9 / 1 000 000,0.1,United States
688642,Turnpenny-Fry syndrome,Cases/families,Case(s),,14.0,Worldwide
688642,Turnpenny-Fry syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100021,Primary plasmacytoma of the bone,Annual incidence,Value and class,1-9 / 1 000 000,0.15,United States
100024,Mu-heavy chain disease,Cases/families,Case(s),,35.0,Worldwide
100024,Mu-heavy chain disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
688649,Isolated adrenal medullary hyperplasia,Cases/families,Case(s),,66.0,Worldwide
688649,Isolated adrenal medullary hyperplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100026,Gamma-heavy chain disease,Cases/families,Case(s),,120.0,Worldwide
100026,Gamma-heavy chain disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100025,Alpha-heavy chain disease,Cases/families,Case(s),,400.0,Worldwide
100025,Alpha-heavy chain disease,Point prevalence,Class only,Unknown,0.0,Worldwide
689234,RNASEH2B-related hereditary spastic paraplegia,Cases/families,Case(s),,22.0,Worldwide
689234,RNASEH2B-related hereditary spastic paraplegia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
689397,Poirier-Bienvenu neurodevelopmental syndrome,Cases/families,Case(s),,81.0,Worldwide
689397,Poirier-Bienvenu neurodevelopmental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
689408,Shashi-Pena syndrome,Cases/families,Case(s),,24.0,Worldwide
689408,Shashi-Pena syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
689430,Adenoid ameloblastoma,Cases/families,Case(s),,30.0,Worldwide
689430,Adenoid ameloblastoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
689422,Okur-Chung neurodevelopmental syndrome,Cases/families,Case(s),,48.0,Worldwide
689422,Okur-Chung neurodevelopmental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100043,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,Cases/families,Case(s),,20.0,Worldwide
100043,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,Cases/families,Case(s),,37.0,Worldwide
100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,Cases/families,Case(s),,35.0,Worldwide
689829,Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome,Cases/families,Case(s),,25.0,Worldwide
689829,Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Cases/families,Case(s),,12.0,Worldwide
689822,Structural heart defects-renal anomalies syndrome,Cases/families,Case(s),,11.0,Worldwide
689822,Structural heart defects-renal anomalies syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100050,Hereditary angioedema type 1,Point prevalence,Value and class,1-9 / 100 000,1.54,Italy
100050,Hereditary angioedema type 1,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
647667,Mandibuloacral dysplasia associated to MTX2,Cases/families,Case(s),,7.0,Worldwide
647667,Mandibuloacral dysplasia associated to MTX2,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
647676,Multiple epiphyseal dysplasia type 7,Cases/families,Case(s),,2.0,Worldwide
647676,Multiple epiphyseal dysplasia type 7,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100012,Lissencephaly with cerebellar hypoplasia type B,Cases/families,Case(s),,50.0,Worldwide
100012,Lissencephaly with cerebellar hypoplasia type B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
646278,CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome,Cases/families,Case(s),,25.0,Worldwide
646278,CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100013,Lissencephaly with cerebellar hypoplasia type C,Cases/families,Case(s),,2.0,Worldwide
100013,Lissencephaly with cerebellar hypoplasia type C,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100008,ACys amyloidosis,Cases/families,Family(ies),,9.0,Worldwide
100008,ACys amyloidosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100003,Intraneural perineurioma,Cases/families,Case(s),,172.0,Worldwide
100003,Intraneural perineurioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
100006,"ABeta amyloidosis, Dutch type",Cases/families,Case(s),,250.0,Worldwide
100006,"ABeta amyloidosis, Dutch type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
645749,Congenital esophageal stenosis,Prevalence at birth,Value and class,1-9 / 100 000,3.0,United States
645749,Congenital esophageal stenosis,Point prevalence,Class only,Unknown,0.0,Worldwide
100002,Extraneural perineurioma,Cases/families,Case(s),,300.0,Worldwide
100002,Extraneural perineurioma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99995,Complex regional pain syndrome type 1,Annual incidence,Value and class,1-9 / 100 000,5.46,United States
99995,Complex regional pain syndrome type 1,Point prevalence,Value and class,1-5 / 10 000,20.57,United States
99994,Complex regional pain syndrome type 2,Annual incidence,Value and class,1-9 / 1 000 000,0.82,United States
99994,Complex regional pain syndrome type 2,Point prevalence,Class only,Unknown,0.0,Europe
99989,Intermediate DEND syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
99981,Apnea of prematurity,Point prevalence,Value and class,1-9 / 100 000,8.5,Europe
99978,Perihilar cholangiocarcinoma,Annual incidence,Value and class,1-9 / 100 000,1.5,United States
99978,Perihilar cholangiocarcinoma,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.357,Europe
99977,Squamous cell carcinoma of the esophagus,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
99977,Squamous cell carcinoma of the esophagus,Lifetime Prevalence,Value and class,1-9 / 100 000,5.42,Europe
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,5.2,Worldwide
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.026,Austria
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.881,Belgium
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 1 000 000,0.801,Bulgaria
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.79,Croatia
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.315,Czech Republic
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.122,Estonia
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.325,Finland
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,5.069,France
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,4.172,Germany
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.215,Iceland
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.443,Ireland
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.623,Italy
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.896,Latvia
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,2.922,Lithuania
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,1.256,Malta
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,1.706,Norway
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,1.996,Poland
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.734,Portugal
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.866,Slovakia
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.234,Slovenia
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.544,Spain
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.778,Switzerland
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,3.139,Netherlands
99977,Squamous cell carcinoma of the esophagus,Annual incidence,Value and class,1-9 / 100 000,4.186,United Kingdom
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,3.264,Europe
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Lifetime Prevalence,Value and class,1-9 / 100 000,5.55,Europe
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.7,Worldwide
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.235,Austria
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,3.918,Belgium
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.364,Bulgaria
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.485,Croatia
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.28,Czech Republic
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.305,Estonia
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.5,Finland
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.681,France
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.636,Germany
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,2.471,Iceland
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,3.736,Ireland
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.947,Italy
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.39,Latvia
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.526,Lithuania
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.319,Malta
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.315,Poland
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.829,Portugal
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.578,Slovakia
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 1 000 000,0.651,Slovenia
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,2.612,Switzerland
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,5.196,Netherlands
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,6.592,United Kingdom
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.848,Norway
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Annual incidence,Value and class,1-9 / 100 000,1.178,Spain
99971,Well-differentiated liposarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.51,Europe
99971,Well-differentiated liposarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99969,Pleomorphic liposarcoma,Annual incidence,Value and class,<1 / 1 000 000,0.05,Europe
99969,Pleomorphic liposarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99970,Dedifferentiated liposarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.27,Europe
99970,Dedifferentiated liposarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99967,Myxoid/round cell liposarcoma,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Europe
99967,Myxoid/round cell liposarcoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99965,O'Sullivan-McLeod syndrome,Cases/families,Case(s),,7.0,Worldwide
99965,O'Sullivan-McLeod syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99966,Atypical teratoid rhabdoid tumor,Point prevalence,Class only,Unknown,0.0,Worldwide
99966,Atypical teratoid rhabdoid tumor,Annual incidence,Value and class,1-9 / 100 000,1.38,Austria
643549,Hao-Fountain syndrome,Cases/families,Case(s),,18.0,Worldwide
643549,Hao-Fountain syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
643503,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,Cases/families,Case(s),,13.0,Worldwide
643503,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99955,Charcot-Marie-Tooth disease type 4B1,Cases/families,Family(ies),,11.0,Worldwide
99955,Charcot-Marie-Tooth disease type 4B1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99956,Charcot-Marie-Tooth disease type 4B2,Point prevalence,Class only,Unknown,0.0,Worldwide
99948,Charcot-Marie-Tooth disease type 4A,Point prevalence,Class only,Unknown,0.0,Worldwide
99947,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,Point prevalence,Class only,Unknown,0.0,Worldwide
99950,Charcot-Marie-Tooth disease type 4D,Point prevalence,Class only,Unknown,0.0,Worldwide
99949,Charcot-Marie-Tooth disease type 4C,Point prevalence,Class only,Unknown,0.0,Worldwide
99952,Charcot-Marie-Tooth disease type 4F,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
99954,Charcot-Marie-Tooth disease type 4H,Cases/families,Case(s),,15.0,Worldwide
99954,Charcot-Marie-Tooth disease type 4H,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99953,Charcot-Marie-Tooth disease type 4G,Point prevalence,Class only,Unknown,0.0,Worldwide
99953,Charcot-Marie-Tooth disease type 4G,Point prevalence,Value and class,1-5 / 10 000,10.0,Czech Republic
648992,Non-syndromic bridging bronchus,Cases/families,Case(s),,17.0,Worldwide
648992,Non-syndromic bridging bronchus,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,Cases/families,Family(ies),,5.0,Worldwide
99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99939,Autosomal dominant Charcot-Marie-Tooth disease type 2E,Point prevalence,Class only,Unknown,0.0,Worldwide
649010,Non-syndromic congenital bronchial atresia,Point prevalence,Class only,1-9 / 100 000,0.0,Worldwide
99942,Autosomal dominant Charcot-Marie-Tooth disease type 2I,Cases/families,Case(s),,5.0,Worldwide
99942,Autosomal dominant Charcot-Marie-Tooth disease type 2I,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,Cases/families,Case(s),,30.0,Worldwide
99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
649029,Isolated left bronchial isomerism,Cases/families,Case(s),,4.0,Worldwide
649029,Isolated left bronchial isomerism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,Cases/families,Family(ies),,1.0,Worldwide
99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,Cases/families,Family(ies),,1.0,Worldwide
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99931,Idiopathic pulmonary hemosiderosis,Annual incidence,Value and class,<1 / 1 000 000,0.0425,Europe
99931,Idiopathic pulmonary hemosiderosis,Point prevalence,Class only,Unknown,0.0,Europe
648684,Central retinal artery occlusion,Annual incidence,Value and class,1-9 / 100 000,2.2,Worldwide
648684,Central retinal artery occlusion,Point prevalence,Value and class,1-5 / 10 000,12.1,Worldwide
99932,Heiner syndrome,Point prevalence,Value and class,<1 / 1 000 000,0.07,Worldwide
648919,Idiopathic catatonia,Cases/families,Case(s),,16.0,Worldwide
648919,Idiopathic catatonia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99936,Autosomal dominant Charcot-Marie-Tooth disease type 2B,Cases/families,Case(s),,3.0,Worldwide
99936,Autosomal dominant Charcot-Marie-Tooth disease type 2B,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99937,Autosomal dominant Charcot-Marie-Tooth disease type 2C,Cases/families,Case(s),,17.0,Worldwide
99937,Autosomal dominant Charcot-Marie-Tooth disease type 2C,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,Cases/families,Case(s),,44.0,Worldwide
99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99925,Invasive mole,Point prevalence,Class only,Unknown,0.0,Worldwide
99926,Gestational choriocarcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99926,Gestational choriocarcinoma,Annual incidence,Class only,Unknown,0.0,Worldwide
99926,Gestational choriocarcinoma,Lifetime Prevalence,Class only,Unknown,0.0,Worldwide
99927,Hydatidiform mole,Point prevalence,Class only,Unknown,0.0,Worldwide
99927,Hydatidiform mole,Annual incidence,Class only,Unknown,0.0,Worldwide
99928,Placental site trophoblastic tumor,Annual incidence,Value and class,<1 / 1 000 000,0.02,Europe
99928,Placental site trophoblastic tumor,Lifetime Prevalence,Value and class,1-9 / 1 000 000,0.86,Europe
99928,Placental site trophoblastic tumor,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
648681,Immune-mediated scleritis,Annual incidence,Value and class,1-9 / 100 000,4.0,Worldwide
648681,Immune-mediated scleritis,Point prevalence,Class only,Unknown,0.0,Worldwide
99918,Streptococcal toxic-shock syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.1,France
99918,Streptococcal toxic-shock syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.2,United States
99918,Streptococcal toxic-shock syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.33,Sweden
99918,Streptococcal toxic-shock syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.23,Denmark
99917,"Theca steroid-producing cell malignant tumor of ovary, not further specified",Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
99916,Malignant Sertoli-Leydig cell tumor of the ovary,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
99915,Malignant granulosa cell tumor of the ovary,Annual incidence,Value and class,1-9 / 1 000 000,0.12,Europe
99919,Staphylococcal toxic-shock syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
99919,Staphylococcal toxic-shock syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.58,United States
99912,Ovarian dysgerminoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99912,Ovarian dysgerminoma,Annual incidence,Value and class,<1 / 1 000 000,0.04,Europe
99901,Acyl-CoA dehydrogenase 9 deficiency,Cases/families,Case(s),,23.0,Worldwide
99901,Acyl-CoA dehydrogenase 9 deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
99905,Streptobacillary rat-bite fever,Point prevalence,Class only,Unknown,0.0,Worldwide
99903,Spirillary rat-bite fever,Point prevalence,Class only,Unknown,0.0,Worldwide
99892,ACTH-dependent Cushing syndrome,Annual incidence,Value and class,1-9 / 1 000 000,0.55,Worldwide
99892,ACTH-dependent Cushing syndrome,Point prevalence,Class only,Unknown,0.0,Worldwide
99898,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99898,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,Cases/families,Case(s),,31.0,Worldwide
99879,Familial isolated hyperparathyroidism,Cases/families,Family(ies),,100.0,Worldwide
99879,Familial isolated hyperparathyroidism,Point prevalence,Class only,Unknown,0.0,Worldwide
99880,Hyperparathyroidism-jaw tumor syndrome,Cases/families,Case(s),,100.0,Worldwide
99880,Hyperparathyroidism-jaw tumor syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99889,Cushing syndrome due to ectopic ACTH secretion,Point prevalence,Class only,Unknown,0.0,Worldwide
99885,Isolated permanent neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Europe
99885,Isolated permanent neonatal diabetes mellitus,Point prevalence,Class only,1-9 / 1 000 000,0.0,Europe
99885,Isolated permanent neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,United Kingdom
99885,Isolated permanent neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Poland
99885,Isolated permanent neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.38,Netherlands
99885,Isolated permanent neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.46,Slovakia
99885,Isolated permanent neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.4,United States
99885,Isolated permanent neonatal diabetes mellitus,Prevalence at birth,Value and class,1-5 / 10 000,18.0,Oman
99886,Transient neonatal diabetes mellitus,Prevalence at birth,Value and class,1-9 / 1 000 000,0.3,Europe
99886,Transient neonatal diabetes mellitus,Point prevalence,Class only,Unknown,0.0,Europe
653712,CHD4-related neurodevelopmental disorder,Cases/families,Case(s),,50.0,Worldwide
653712,CHD4-related neurodevelopmental disorder,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
653725,"Autosomal recessive limb-girdle muscular dystrophy, type 28",Cases/families,Case(s),,15.0,Worldwide
653725,"Autosomal recessive limb-girdle muscular dystrophy, type 28",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99865,Spermatocytic seminoma,Annual incidence,Value and class,<1 / 1 000 000,0.03,Europe
99865,Spermatocytic seminoma,Point prevalence,Class only,Unknown,0.0,Europe
653728,"Congenital insensitivity to pain syndrome, Marsili type",Cases/families,Case(s),,36.0,Worldwide
653728,"Congenital insensitivity to pain syndrome, Marsili type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
653709,Cone rod dystrophy-short stature syndrome,Cases/families,Case(s),,6.0,Worldwide
653709,Cone rod dystrophy-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
656071,Atrophic papulosis,Cases/families,Case(s),,200.0,Worldwide
656071,Atrophic papulosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99868,Thymic carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
653751,X-linked combined immunodeficiency due to SASH3 deficiency,Cases/families,Case(s),,5.0,Worldwide
653751,X-linked combined immunodeficiency due to SASH3 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99867,Thymoma,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Europe
99867,Thymoma,Lifetime Prevalence,Value and class,1-9 / 100 000,1.22,Europe
99867,Thymoma,Point prevalence,Class only,Unknown,0.0,Worldwide
653767,Jansen-de Vries syndrome,Cases/families,Case(s),,51.0,Worldwide
653767,Jansen-de Vries syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
653880,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,Cases/families,Case(s),,23.0,Worldwide
653880,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99869,Thymic neuroendocrine carcinoma,Point prevalence,Class only,Unknown,0.0,Worldwide
99849,Glycogen storage disease due to muscle beta-enolase deficiency,Cases/families,Case(s),,1.0,Worldwide
99849,Glycogen storage disease due to muscle beta-enolase deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99845,Genetic recurrent myoglobinuria,Point prevalence,Class only,Unknown,0.0,Worldwide
99846,Autosomal dominant myoglobinuria,Cases/families,Family(ies),,2.0,Worldwide
99846,Autosomal dominant myoglobinuria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99843,Leukocyte adhesion deficiency type II,Cases/families,Case(s),,7.0,Worldwide
99843,Leukocyte adhesion deficiency type II,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99844,Leukocyte adhesion deficiency type III,Cases/families,Case(s),,40.0,Worldwide
99844,Leukocyte adhesion deficiency type III,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99853,Ovarioleukodystrophy,Cases/families,Case(s),,17.0,Worldwide
99853,Ovarioleukodystrophy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
652532,Adult-onset progressive leukoencephalopathy-early-onset deafness,Cases/families,Case(s),,8.0,Worldwide
652532,Adult-onset progressive leukoencephalopathy-early-onset deafness,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
652528,Supernumerary kidney,Cases/families,Case(s),,99.0,Worldwide
652528,Supernumerary kidney,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99852,Ravine syndrome,Cases/families,Case(s),,38.0,Worldwide
99852,Ravine syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99832,Resistance to thyrotropin-releasing hormone syndrome,Cases/families,Case(s),,2.0,Worldwide
99832,Resistance to thyrotropin-releasing hormone syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99829,Yellow fever,Point prevalence,Class only,Unknown,0.0,Worldwide
99829,Yellow fever,Annual incidence,Class only,<1 / 1 000 000,0.0,Europe
99828,Dengue fever,Point prevalence,Class only,Unknown,0.0,Worldwide
99828,Dengue fever,Annual incidence,Value and class,>1 / 1000,714.0,Worldwide
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.5,Europe
99828,Dengue fever,Point prevalence,Class only,1-9 / 100 000,0.0,Europe
99828,Dengue fever,Annual incidence,Value and class,1-9 / 100 000,1.14,Austria
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.98,Belgium
99828,Dengue fever,Annual incidence,Value and class,<1 / 1 000 000,0.033,Croatia
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.58,Estonia
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.98,Finland
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.36,France
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.96,Germany
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Hungary
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.32,Ireland
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.14,Italy
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.34,Latvia
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.15,Lithuania
99828,Dengue fever,Annual incidence,Value and class,<1 / 1 000 000,0.04,Luxembourg
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Malta
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.1,Portugal
99828,Dengue fever,Annual incidence,Value and class,<1 / 1 000 000,0.07,Slovakia
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.22,Slovenia
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.26,Spain
99828,Dengue fever,Annual incidence,Value and class,1-9 / 100 000,1.7,Sweden
99828,Dengue fever,Annual incidence,Value and class,1-9 / 1 000 000,0.72,United Kingdom
99828,Dengue fever,Annual incidence,Value and class,1-9 / 100 000,1.26,Norway
99828,Dengue fever,Annual incidence,Class only,<1 / 1 000 000,0.0,Greece
99827,Crimean-Congo hemorrhagic fever,Point prevalence,Class only,Unknown,0.0,Worldwide
99827,Crimean-Congo hemorrhagic fever,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
99842,Leukocyte adhesion deficiency type I,Point prevalence,Value and class,1-9 / 1 000 000,0.1,Europe
650077,Genetic central precocious puberty in female,Point prevalence,Value and class,1-9 / 100 000,7.8,"Korea, Democratic People's Republic of"
650077,Genetic central precocious puberty in female,Point prevalence,Value and class,1-9 / 100 000,3.0,Europe
660017,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome,Cases/families,Case(s),,15.0,Worldwide
660017,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99812,LIG4 syndrome,Cases/families,Case(s),,28.0,Worldwide
99812,LIG4 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
660021,Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome,Cases/families,Case(s),,13.0,Worldwide
660021,Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
661526,MBD4-related tumor predisposition syndrome,Cases/families,Family(ies),,4.0,Worldwide
661526,MBD4-related tumor predisposition syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
661412,Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency,Cases/families,Case(s),,5.0,Worldwide
661412,Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662179,Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome,Cases/families,Case(s),,3.0,Worldwide
662179,Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662175,Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome,Cases/families,Case(s),,5.0,Worldwide
662175,Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662189,Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome,Cases/families,Case(s),,5.0,Worldwide
662189,Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
662184,Congenital muscular dystrophy-cataract-intellectual disability syndrome,Cases/families,Case(s),,23.0,Worldwide
662184,Congenital muscular dystrophy-cataract-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99824,Lassa fever,Point prevalence,Class only,Unknown,0.0,Worldwide
99824,Lassa fever,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
662198,Neurodevelopmental delay-intellectual disability-skeletal defects syndrome,Cases/families,Case(s),,44.0,Worldwide
662198,Neurodevelopmental delay-intellectual disability-skeletal defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99825,Nipah virus disease,Cases/families,Case(s),,556.0,Worldwide
99825,Nipah virus disease,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99826,Marburg hemorrhagic fever,Cases/families,Case(s),,500.0,Worldwide
99826,Marburg hemorrhagic fever,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99798,Oligodontia,Point prevalence,Class only,Unknown,0.0,Worldwide
659744,Ocular surface squamous neoplasia,Annual incidence,Value and class,<1 / 1 000 000,0.03,United States
99802,Hemimegalencephaly,Point prevalence,Class only,Unknown,0.0,Worldwide
659873,Wormian bones-micrognathia-abnormal dentition-progeroid syndrome,Cases/families,Case(s),,3.0,Worldwide
659873,Wormian bones-micrognathia-abnormal dentition-progeroid syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99803,Haddad syndrome,Cases/families,Case(s),,60.0,Worldwide
99803,Haddad syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99806,Oculootodental syndrome,Cases/families,Family(ies),,1.0,Worldwide
99806,Oculootodental syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659904,Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome,Cases/families,Case(s),,29.0,Worldwide
659904,Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99807,PEHO-like syndrome,Cases/families,Case(s),,10.0,Worldwide
99807,PEHO-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99810,Familial porencephaly,Point prevalence,Class only,<1 / 1 000 000,0.0,Europe
659975,Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome,Cases/families,Case(s),,26.0,Worldwide
659975,Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659396,Cohen-Gibson syndrome,Cases/families,Case(s),,12.0,Worldwide
659396,Cohen-Gibson syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
658951,Early-onset immune dysregulation due to DOCK11 complete deficiency,Cases/families,Case(s),,12.0,Worldwide
658951,Early-onset immune dysregulation due to DOCK11 complete deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659609,Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome,Cases/families,Case(s),,15.0,Worldwide
659609,Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome,Lifetime Prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659609,Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659463,Imagawa-Matsumoto syndrome,Cases/families,Case(s),,15.0,Worldwide
659463,Imagawa-Matsumoto syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659672,Harderoporphyria,Cases/families,Case(s),,6.0,Worldwide
659672,Harderoporphyria,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99789,Dentin dysplasia type I,Point prevalence,Value and class,1-9 / 100 000,1.0,Europe
659642,Rauch-Steindl syndrome,Cases/families,Case(s),,28.0,Worldwide
659642,Rauch-Steindl syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
659702,Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome,Cases/families,Case(s),,20.0,Worldwide
659702,Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99791,Dentin dysplasia type II,Cases/families,Family(ies),,19.0,Worldwide
99791,Dentin dysplasia type II,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99792,Dentin dysplasia-sclerotic bones syndrome,Cases/families,Family(ies),,1.0,Worldwide
99792,Dentin dysplasia-sclerotic bones syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
658584,Rowell syndrome,Cases/families,Case(s),,73.0,Worldwide
658584,Rowell syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
658590,Eyelid sebaceous carcinoma,Annual incidence,Class only,<1 / 1 000 000,0.0,United States
658590,Eyelid sebaceous carcinoma,Point prevalence,Class only,<1 / 1 000 000,0.0,United States
658778,COQ7-related distal hereditary motor neuropathy,Cases/families,Case(s),,12.0,Worldwide
658778,COQ7-related distal hereditary motor neuropathy,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
658595,DNMT3A-related microcephalic dwarfism,Cases/families,Case(s),,3.0,Worldwide
658595,DNMT3A-related microcephalic dwarfism,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
658813,Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency,Cases/families,Case(s),,8.0,Worldwide
658813,Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
658843,Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome,Cases/families,Case(s),,62.0,Worldwide
658843,Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99772,Cleft velum,Point prevalence,Class only,1-5 / 10 000,0.0,Europe
658805,Greig cephalopolysyndactyly-contiguous gene syndrome,Cases/families,Case(s),,200.0,Worldwide
658805,Greig cephalopolysyndactyly-contiguous gene syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
658810,Atrophoderma of Pasini and Pierini,Cases/families,Case(s),,100.0,Worldwide
658810,Atrophoderma of Pasini and Pierini,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
99771,Bifid uvula,Point prevalence,Class only,Unknown,0.0,Worldwide
99776,Mosaic trisomy 9 syndrome,Cases/families,Case(s),,50.0,Worldwide
99776,Mosaic trisomy 9 syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631073,Autosomal recessive spastic paraplegia type 82,Cases/families,Case(s),,5.0,Worldwide
631073,Autosomal recessive spastic paraplegia type 82,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631076,Autosomal recessive spastic paraplegia type 83,Cases/families,Case(s),,16.0,Worldwide
631076,Autosomal recessive spastic paraplegia type 83,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631079,Autosomal recessive spastic paraplegia type 84,Cases/families,Case(s),,2.0,Worldwide
631079,Autosomal recessive spastic paraplegia type 84,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631082,Autosomal recessive spastic paraplegia type 85,Cases/families,Case(s),,9.0,Worldwide
631082,Autosomal recessive spastic paraplegia type 85,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631068,Autosomal dominant spastic paraplegia type 80,Cases/families,Case(s),,13.0,Worldwide
631068,Autosomal dominant spastic paraplegia type 80,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631106,Spinocerebellar ataxia type 49,Cases/families,Case(s),,9.0,Worldwide
631106,Spinocerebellar ataxia type 49,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631103,Spinocerebellar ataxia type 48,Cases/families,Case(s),,50.0,Worldwide
631103,Spinocerebellar ataxia type 48,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631095,Spinocerebellar ataxia type 44,Cases/families,Case(s),,7.0,Worldwide
631095,Spinocerebellar ataxia type 44,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631088,Autosomal recessive spastic paraplegia type 87,Cases/families,Case(s),,7.0,Worldwide
631088,Autosomal recessive spastic paraplegia type 87,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631085,Autosomal recessive spastic paraplegia type 86,Cases/families,Case(s),,17.0,Worldwide
631085,Autosomal recessive spastic paraplegia type 86,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
631248,Mitchell Syndrome,Cases/families,Case(s),,15.0,Worldwide
631248,Mitchell Syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
634475,Mosaic NF2-related schwannomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
634492,Mosaic schwannomatosis,Point prevalence,Class only,Unknown,0.0,Worldwide
634492,Mosaic schwannomatosis,Point prevalence,Value and class,1-9 / 1 000 000,0.7928,United Kingdom
634492,Mosaic schwannomatosis,Prevalence at birth,Value and class,1-9 / 100 000,1.4502,United Kingdom
634461,Mosaic neurofibromatosis type 1,Point prevalence,Class only,Unknown,0.0,Worldwide
634461,Mosaic neurofibromatosis type 1,Point prevalence,Value and class,1-5 / 10 000,24.4618,Finland
633228,Isolated proximal femoral focal deficiency,Point prevalence,Value and class,1-9 / 100 000,1.55,Worldwide
633228,Isolated proximal femoral focal deficiency,Prevalence at birth,Value and class,1-9 / 100 000,1.55,Worldwide
637064,Isolated optic nerve aplasia,Cases/families,Case(s),,3.0,Worldwide
637064,Isolated optic nerve aplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
637061,Isolated optic nerve hypoplasia,Cases/families,Case(s),,25.0,Worldwide
637061,Isolated optic nerve hypoplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
637051,Borna virus encephalitis,Cases/families,Case(s),,18.0,Worldwide
637051,Borna virus encephalitis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
637013,SMARCA2-related blepharophimosis-intellectual disability syndrome,Cases/families,Case(s),,14.0,Worldwide
637013,SMARCA2-related blepharophimosis-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
636945,Invasive candidiasis,Point prevalence,Class only,Unknown,0.0,Europe
636945,Invasive candidiasis,Annual incidence,Value and class,1-9 / 100 000,2.5,France
636941,Vascular Ehlers-Danlos-polymicrogyria syndrome,Cases/families,Case(s),,9.0,Worldwide
636941,Vascular Ehlers-Danlos-polymicrogyria syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
636955,Endemic pemphigus foliaceus,Point prevalence,Class only,Unknown,0.0,Europe
636955,Endemic pemphigus foliaceus,Annual incidence,Value and class,1-9 / 1 000 000,0.4,Tunisia
636950,Glaucomatocyclitic crisis disease,Point prevalence,Class only,Unknown,0.0,Europe
641829,Neonatal compartment syndrome,Cases/families,Case(s),,60.0,Worldwide
641829,Neonatal compartment syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
641496,Childhood-onset schizophrenia,Annual incidence,Class only,1-5 / 10 000,0.0,Europe
641496,Childhood-onset schizophrenia,Point prevalence,Class only,Unknown,0.0,Europe
641390,PsAPASH syndrome,Cases/families,Case(s),,10.0,Worldwide
641390,PsAPASH syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
641380,PAPASH syndrome,Cases/families,Case(s),,20.0,Worldwide
641380,PAPASH syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
641385,PASS syndrome,Cases/families,Case(s),,16.0,Worldwide
641385,PASS syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
641368,Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency,Cases/families,Case(s),,61.0,Worldwide
641368,Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
641353,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,Cases/families,Case(s),,32.0,Worldwide
641353,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
641361,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,Cases/families,Case(s),,10.0,Worldwide
641361,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
641350,Immunotherapy induced hypophysitis,Annual incidence,Value and class,1-5 / 10 000,12.8074,Europe
641350,Immunotherapy induced hypophysitis,Point prevalence,Class only,Unknown,0.0,Europe
642965,Autosomal recessive ataxia due to PEX2 deficiency,Cases/families,Case(s),,2.0,Worldwide
642965,Autosomal recessive ataxia due to PEX2 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
642763,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,Cases/families,Case(s),,49.0,Worldwide
642763,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
642747,PUM1-related cerebellar ataxia,Cases/families,Case(s),,4.0,United States
642747,PUM1-related cerebellar ataxia,Cases/families,Case(s),,2.0,South East Asia
642747,PUM1-related cerebellar ataxia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
642675,CHD8 overgrowth syndrome,Cases/families,Case(s),,73.0,Worldwide
642675,CHD8 overgrowth syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
642671,Familial hyperaldosteronism type IV,Cases/families,Case(s),,17.0,Worldwide
642671,Familial hyperaldosteronism type IV,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",Cases/families,Case(s),,30.0,Worldwide
642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
642085,EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity,Cases/families,Case(s),,6.0,Worldwide
642085,EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
632603,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,Cases/families,Case(s),,18.0,Worldwide
632603,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
633004,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,Cases/families,Case(s),,17.0,Worldwide
633004,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
633014,SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome,Cases/families,Case(s),,13.0,Worldwide
633014,SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
633124,Invasive scopulariopsis infection,Point prevalence,Value and class,<1 / 1 000 000,0.05,Europe
633035,Intellectual disability-early-onset cataract-microcephaly syndrome,Cases/families,Case(s),,6.0,Worldwide
633035,Intellectual disability-early-onset cataract-microcephaly syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
633028,CPE-related Prader-Willi-like syndrome,Cases/families,Case(s),,8.0,Worldwide
633028,CPE-related Prader-Willi-like syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
633099,PAICS deficiency,Cases/families,Case(s),,3.0,Worldwide
633099,PAICS deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
633076,"Split cord malformation, composite type",Cases/families,Case(s),,15.0,Worldwide
633076,"Split cord malformation, composite type",Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
615970,Chronic intervillositis of unknown etiology,Point prevalence,Class only,Unknown,0.0,Worldwide
615954,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,Cases/families,Case(s),,16.0,Worldwide
615954,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
615964,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,Cases/families,Case(s),,7.0,Worldwide
615964,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
617408,Classic eosinophilic pustular folliculitis,Point prevalence,Class only,Unknown,0.0,Worldwide
617440,Painful legs and moving toes syndrome,Cases/families,Case(s),,144.0,Worldwide
617440,Painful legs and moving toes syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
617304,Amniotic fluid embolism,Point prevalence,Class only,Unknown,0.0,United Kingdom
617294,Twin anemia-polycythemia sequence,Point prevalence,Class only,Unknown,0.0,Worldwide
617301,Selective intrauterine growth restriction,Point prevalence,Class only,Unknown,0.0,Worldwide
617297,Twin-reversed arterial perfusion sequence,Point prevalence,Class only,Unknown,0.0,Worldwide
621758,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,Cases/families,Case(s),,10.0,Worldwide
621758,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620371,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,Cases/families,Family(ies),,14.0,Worldwide
620371,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620368,EGF-related primary hypomagnesemia with intellectual disability,Cases/families,Case(s),,11.0,Worldwide
620368,EGF-related primary hypomagnesemia with intellectual disability,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620363,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,Cases/families,Case(s),,11.0,Worldwide
620363,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620205,Non-syndromic bicoronal and sagittal craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620212,Non-syndromic pansynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620192,Non-syndromic metopic and sagittal craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620198,Non-syndromic bicoronal and metopic craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620178,Non-syndromic bilambdoid craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620186,Non-syndromic unicoronal and sagittal craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620158,Non-syndromic non-specific multisutural craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620139,Non-syndromic unifrontosphenoidal craniosynostosis,Point prevalence,Value and class,<1 / 1 000 000,0.0136,Worldwide
620146,Non-syndromic unisquamosal craniosynostosis,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
620102,Non-syndromic unicoronal craniosynostosis,Point prevalence,Value and class,1-9 / 1 000 000,0.1049,Worldwide
620113,Non-syndromic unilambdoid craniosynostosis,Point prevalence,Value and class,<1 / 1 000 000,0.0442,Worldwide
624268,Non-specific autoimmune cerebellar ataxia without characteristic antibodies,Point prevalence,Class only,Unknown,0.0,Worldwide
624199,Non-specific autoimmune brainstem encephalitis with characteristic antibodies,Point prevalence,Class only,Unknown,0.0,Worldwide
624190,Paraneoplastic isolated brainstem encephalitis,Point prevalence,Class only,Unknown,0.0,Worldwide
624244,Postinfectious cerebellitis,Point prevalence,Class only,Unknown,0.0,Worldwide
624244,Postinfectious cerebellitis,Annual incidence,Class only,Unknown,0.0,Worldwide
624216,Non-specific autoimmune brainstem encephalitis without characteristic antibodies,Point prevalence,Class only,Unknown,0.0,Worldwide
623789,Body integrity dysphoria,Point prevalence,Value and class,1-9 / 1 000 000,0.11,Worldwide
623801,Acute flaccid myelitis,Point prevalence,Class only,Unknown,0.0,Worldwide
623801,Acute flaccid myelitis,Annual incidence,Value and class,1-9 / 100 000,1.12,Australia
623801,Acute flaccid myelitis,Annual incidence,Value and class,<1 / 1 000 000,0.06,Netherlands
623801,Acute flaccid myelitis,Annual incidence,Value and class,<1 / 1 000 000,0.04,United States
624166,Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,Point prevalence,Class only,Unknown,0.0,Worldwide
624178,Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,Point prevalence,Class only,Unknown,0.0,Worldwide
623615,Autoimmune limbic encephalitis,Point prevalence,Value and class,1-9 / 100 000,1.7,Europe
623615,Autoimmune limbic encephalitis,Annual incidence,Value and class,1-9 / 1 000 000,0.25,Europe
623626,Paraneoplastic cerebellar degeneration,Point prevalence,Value and class,1-9 / 1 000 000,0.9553,Europe
623626,Paraneoplastic cerebellar degeneration,Annual incidence,Value and class,1-9 / 1 000 000,0.2225,Europe
623626,Paraneoplastic cerebellar degeneration,Point prevalence,Value and class,1-9 / 1 000 000,0.6869,France
623626,Paraneoplastic cerebellar degeneration,Annual incidence,Value and class,1-9 / 1 000 000,0.16,France
623626,Paraneoplastic cerebellar degeneration,Point prevalence,Value and class,1-9 / 100 000,1.2236,Italy
623626,Paraneoplastic cerebellar degeneration,Annual incidence,Value and class,1-9 / 1 000 000,0.285,Italy
623695,MIR140-related spondyloepiphyseal dysplasia,Cases/families,Case(s),,2.0,Worldwide
623695,MIR140-related spondyloepiphyseal dysplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
622925,X-linked severe syndromic thoracic aortic aneurysm and dissection,Cases/families,Case(s),,32.0,Worldwide
622925,X-linked severe syndromic thoracic aortic aneurysm and dissection,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
618891,Chronic neurovisceral acid sphingomyelinase deficiency,Point prevalence,Class only,Unknown,0.0,Worldwide
617910,Conjunctival malignant melanoma,Cases/families,Case(s),,32.0,Worldwide
617910,Conjunctival malignant melanoma,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
617916,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,Cases/families,Case(s),,100.0,Worldwide
617916,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
617919,F12-associated cold autoinflammatory syndrome,Cases/families,Case(s),,4.0,Worldwide
617919,F12-associated cold autoinflammatory syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
619941,Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency,Cases/families,Case(s),,3.0,Worldwide
619941,Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
619367,SAMD9L-associated autoinflammatory syndrome,Cases/families,Case(s),,6.0,Worldwide
619367,SAMD9L-associated autoinflammatory syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
619953,Familial hyperinflammatory lymphoproliferative immunodeficiency,Cases/families,Case(s),,7.0,Worldwide
619953,Familial hyperinflammatory lymphoproliferative immunodeficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
619948,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency,Cases/families,Case(s),,10.0,Worldwide
619948,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
619979,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,Cases/families,Case(s),,4.0,Worldwide
619979,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
619363,NOCARH syndrome,Cases/families,Case(s),,15.0,Worldwide
619363,NOCARH syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
619233,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,Cases/families,Case(s),,9.0,Worldwide
619233,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,Point prevalence,Class only,<1 / 1 000 000,0.0,Worldwide
