MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Autosomal dominant optic atrophy and peripheral neuropathy

ORPHA:250932Kr.
Autosomal dominant

Autosomal dominant optic atrophy plus syndrome

ORPHA:1215Kr.
Autosomal dominant

Autosomal dominant optic atrophy, classic form

ORPHA:98673Kr.
Autosomal dominant

Autosomal dominant osteopetrosis type 1

ORPHA:2783Malf.
Autosomal dominant

Autosomal dominant otospondylomegaepiphyseal dysplasia

ORPHA:166100Malf.
Autosomal dominant

Autosomal dominant palmoplantar keratoderma and congenital alopecia

ORPHA:1010Kr.
Autosomal dominant

Autosomal dominant polycystic kidney disease

ORPHA:730Kr.
Autosomal dominant

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

ORPHA:88924Kr.
Autosomal dominant

Autosomal dominant popliteal pterygium syndrome

ORPHA:1300Malf.
Autosomal dominant

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

ORPHA:476119Malf.
Autosomal dominant

Autosomal dominant primary hypomagnesemia with hypocalciuria

ORPHA:34528Kr.
Autosomal dominant

Autosomal dominant primary microcephaly

ORPHA:2514Ätl. subt.
Autosomal dominant

Autosomal dominant prognathism

ORPHA:2964Malf.
Autosomal dominant

Autosomal dominant progressive external ophthalmoplegia

ORPHA:254892Kr.
Autosomal dominant

Autosomal dominant progressive nephropathy with hypertension

ORPHA:88659Kr.
Autosomal dominant

Autosomal dominant proximal renal tubular acidosis

ORPHA:314889Kl. subt.
Autosomal dominant

Autosomal dominant proximal spinal muscular atrophy

ORPHA:211037Kl. gruppe
Autosomal dominant

Autosomal dominant pure spastic paraplegia

ORPHA:100980Kl. gruppe
Autosomal dominant

Autosomal dominant rhegmatogenous retinal detachment

ORPHA:209867Kr.
Autosomal dominant

Autosomal dominant secondary polycythemia

ORPHA:247511Kr.
Autosomal dominant

Autosomal dominant severe congenital neutropenia

ORPHA:486Kr.
Autosomal dominant

Autosomal dominant slowed nerve conduction velocity

ORPHA:140481Kr.
Autosomal dominant

Autosomal dominant spastic ataxia

ORPHA:316235Kat.
Autosomal dominant

Autosomal dominant spastic ataxia type 1

ORPHA:251282Kr.
Autosomal dominant