MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Cerebrooculonasal syndrome

ORPHA:66625Malf.
Autosomal dominant

Cerebrotendinous xanthomatosis

ORPHA:909Kr.
Autosomal recessive

Cernunnos-XLF deficiency

ORPHA:169079Kr.
Autosomal recessive

Cerulean cataract

ORPHA:98989Kl. subt.
Autosomal dominant

Cervical hypertrichosis-peripheral neuropathy syndrome

ORPHA:2218Kr.
Autosomal recessive

Chapare hemorrhagic fever

ORPHA:319244Kr.

Char syndrome

ORPHA:46627Malf.
Autosomal dominant

Charcot-Marie-Tooth disease type 1

ORPHA:65753Kl. gruppe
Autosomal dominant

Charcot-Marie-Tooth disease type 1A

ORPHA:101081Kr.
Autosomal dominant

Charcot-Marie-Tooth disease type 1B

ORPHA:101082Kr.
Autosomal dominant

Charcot-Marie-Tooth disease type 1C

ORPHA:101083Kr.
Autosomal dominant

Charcot-Marie-Tooth disease type 1D

ORPHA:101084Kr.
Autosomal dominant

Charcot-Marie-Tooth disease type 1E

ORPHA:90658Kr.
Autosomal dominant

Charcot-Marie-Tooth disease type 1F

ORPHA:101085Kr.
Autosomal dominant

Charcot-Marie-Tooth disease type 2B1

ORPHA:98856Kr.
Autosomal recessive

Charcot-Marie-Tooth disease type 2B2

ORPHA:101101Kr.
Autosomal recessive

Charcot-Marie-Tooth disease type 2B5

ORPHA:228374Kr.
Autosomal recessive

Charcot-Marie-Tooth disease type 2H

ORPHA:101102Kr.
Autosomal recessive

Charcot-Marie-Tooth disease type 2P

ORPHA:300319Kr.
Autosomal dominant, Autosomal recessive

Charcot-Marie-Tooth disease type 2R

ORPHA:397968Kr.
Autosomal recessive

Charcot-Marie-Tooth disease type 2S

ORPHA:443073Kr.
Autosomal recessive

Charcot-Marie-Tooth disease type 2T

ORPHA:495274Kr.
Autosomal recessive

Charcot-Marie-Tooth disease type 4

ORPHA:64749Kl. gruppe
Autosomal recessive

Charcot-Marie-Tooth disease type 4A

ORPHA:99948Kr.
Autosomal recessive