Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal dominant
Childhood
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant optic atrophy, classic form
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant osteopetrosis type 1
Autosomal dominant
Adolescent, Childhood
Autosomal dominant otospondylomegaepiphyseal dysplasia
Autosomal dominant
Infancy, Neonatal
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant
Infancy, Neonatal
Autosomal dominant polycystic kidney disease
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant
Adolescent, Childhood, Infancy
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant
Antenatal, Neonatal
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Autosomal dominant
Neonatal
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant
All ages
Autosomal dominant primary microcephaly
Autosomal dominant
Antenatal, Infancy, Neonatal
Autosomal dominant prognathism
Autosomal dominant
Neonatal
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant
Adolescent, Adult
Autosomal dominant progressive nephropathy with hypertension
Autosomal dominant
Adult
Autosomal dominant proximal renal tubular acidosis
Autosomal dominant
Childhood
Autosomal dominant proximal spinal muscular atrophy
Autosomal dominant
Autosomal dominant pure spastic paraplegia
Autosomal dominant
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant
Adult
Autosomal dominant secondary polycythemia
Autosomal dominant
Infancy, Neonatal
Autosomal dominant severe congenital neutropenia
Autosomal dominant
Infancy, Neonatal
Autosomal dominant slowed nerve conduction velocity
Autosomal dominant
Adult
Autosomal dominant spastic ataxia
Autosomal dominant
Autosomal dominant spastic ataxia type 1
Autosomal dominant
Adolescent, Adult, Childhood