Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Autosomal recessive metabolic cerebellar ataxia
Autosomal recessive
Autosomal recessive methemoglobinemia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive multiple pterygium syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive
Neonatal
Autosomal recessive myosin storage myopathy
Autosomal recessive
Autosomal recessive nail dysplasia
Autosomal recessive
Childhood, Infancy
Autosomal recessive non-syndromic intellectual disability
Autosomal recessive
Childhood, Infancy
Autosomal recessive omodysplasia
Autosomal recessive
Infancy, Neonatal
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 primary microcephaly
Autosomal recessive
Antenatal, Neonatal
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive
All ages
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive
Childhood
Autosomal recessive pure spastic paraplegia
Autosomal recessive
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal recessive
Infancy, Neonatal
Autosomal recessive severe congenital neutropenia
Autosomal recessive
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
Autosomal recessive
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive
Adolescent, Adult, Childhood, Infancy