Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive
Infancy
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive
Infancy
Autosomal recessive methemoglobinemia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive
Neonatal
Autosomal recessive nail dysplasia
Autosomal recessive
Childhood, Infancy
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive
Childhood
Autosomal recessive otospondylomegaepiphyseal dysplasia
Autosomal recessive
Antenatal, Neonatal
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive
Neonatal
Autosomal recessive polycystic kidney disease
Autosomal recessive
All ages
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Autosomal recessive
Childhood, Infancy, Neonatal
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive
All ages
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal recessive
Infancy, Neonatal
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive
Infancy, Neonatal
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive
Infancy, Neonatal
Autosomal recessive sideroblastic anemia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive
Childhood
Autosomal recessive spastic paraplegia type 11
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Autosomal recessive spastic paraplegia type 14
Autosomal recessive
Adult
Autosomal recessive spastic paraplegia type 20
Autosomal recessive
Infancy
Autosomal recessive spastic paraplegia type 21
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive spastic paraplegia type 23
Autosomal recessive
Childhood
Autosomal recessive spastic paraplegia type 24
Autosomal recessive
Infancy