MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

ORPHA:100043Kr.
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

ORPHA:100044Kr.
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

ORPHA:100045Kr.
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

ORPHA:100046Kr.
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

ORPHA:93114Kr.
Autosomal dominant, Not applicable

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

ORPHA:352670Kr.
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

ORPHA:324585Kr.
Autosomal dominant

Autosomal dominant isolated diffuse palmoplantar keratoderma

ORPHA:98349Kat.
Autosomal dominant

Autosomal dominant keratitis

ORPHA:2334Kr.
Autosomal dominant

Autosomal dominant limb-girdle muscular dystrophy

ORPHA:102014Kat.
Autosomal dominant

Autosomal dominant macrothrombocytopenia

ORPHA:140957Kr.
Autosomal dominant

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

ORPHA:319543Kat.
Autosomal dominant

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

ORPHA:319581Kr.
Autosomal dominant

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

ORPHA:319589Kr.
Autosomal dominant

Autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA:457050Kr.
Autosomal dominant

Autosomal dominant multiple pterygium syndrome

ORPHA:65743Malf.
Autosomal dominant

Autosomal dominant myoglobinuria

ORPHA:99846Kr.
Autosomal dominant

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

ORPHA:440354Malf.
Autosomal dominant

Autosomal dominant myosin storage myopathy

ORPHA:636965Kl. subt.
Autosomal dominant

Autosomal dominant neovascular inflammatory vitreoretinopathy

ORPHA:329211Kr.
Autosomal dominant

Autosomal dominant non-syndromic intellectual disability

ORPHA:178469Ätl. subt.
Autosomal dominant

Autosomal dominant omodysplasia

ORPHA:93328Kl. subt.
Autosomal dominant

Autosomal dominant optic atrophy

ORPHA:98672Kl. gruppe
Autosomal dominant

Autosomal dominant optic atrophy and cataract

ORPHA:67036Kr.
Autosomal dominant