Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant
Infancy
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant
Childhood, Infancy
Autosomal dominant myoglobinuria
Autosomal dominant
No data available
Autosomal dominant neovascular inflammatory vitreoretinopathy
Autosomal dominant
All ages
Autosomal dominant optic atrophy and cataract
Autosomal dominant
Childhood
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 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 primary hypomagnesemia with hypocalciuria
Autosomal dominant
All ages
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant
Adolescent, Adult
Autosomal dominant progressive nephropathy with hypertension
Autosomal dominant
Adult
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 type 1
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant spastic paraplegia type 10
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant spastic paraplegia type 12
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant spastic paraplegia type 13
Autosomal dominant
Adolescent, Adult
Autosomal dominant spastic paraplegia type 17
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant spastic paraplegia type 19
Autosomal dominant
Adult