MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

ORPHA:521414Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2E

ORPHA:99939Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2F

ORPHA:99940Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2I

ORPHA:99942Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2J

ORPHA:99943Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2K

ORPHA:99944Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2L

ORPHA:99945Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2M

ORPHA:228179Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2N

ORPHA:228174Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2O

ORPHA:284232Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

ORPHA:329258Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2U

ORPHA:397735Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2V

ORPHA:447964Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2W

ORPHA:488333Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

ORPHA:435387Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2Z

ORPHA:466768Kr.
Autosomal dominant

Autosomal dominant adult-onset proximal spinal muscular atrophy

ORPHA:209335Kr.
Autosomal dominant

Autosomal dominant aplasia and myelodysplasia

ORPHA:314399Kr.
Autosomal dominant

Autosomal dominant centronuclear myopathy

ORPHA:169189Kr.
Autosomal dominant

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ORPHA:314404Kr.
Autosomal dominant, Not applicable

Autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363447Kr.
Autosomal dominant

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

ORPHA:656912Kr.
Autosomal dominant

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

ORPHA:656313Kr.
Autosomal dominant

Autosomal dominant congenital benign spinal muscular atrophy

ORPHA:1216Kr.
Autosomal dominant