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

Central cloudy dystrophy of François

ORPHA:98972Kr.
Autosomal dominant

Central core disease

ORPHA:597Kr.
Autosomal dominant

Central giant cell granuloma

ORPHA:696078Kr.
Not applicable

Central neurocytoma

ORPHA:73256Kr.
Not applicable

Central retinal artery occlusion

ORPHA:648684Kr.

Central serous chorioretinopathy

ORPHA:443079Kr.
Not applicable

Centrifugal lipodystrophy

ORPHA:90156Kr.

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

ORPHA:504476Kr.
Autosomal recessive

Cerebellar ataxia, Cayman type

ORPHA:94122Kr.
Autosomal recessive

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

ORPHA:1171Kr.
Autosomal dominant, Mitochondrial inheritance

Cerebellar ataxia-hypogonadism syndrome

ORPHA:1173Kr.
Autosomal recessive

Cerebellar liponeurocytoma

ORPHA:251931Kr.
Not applicable

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:136Kr.
Autosomal dominant

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:199354Kr.
Autosomal recessive

Cerebral proliferative angiopathy

ORPHA:692271Kr.

Cerebral sinovenous thrombosis

ORPHA:329217Kr.

Cerebrotendinous xanthomatosis

ORPHA:909Kr.
Autosomal recessive

Cernunnos-XLF deficiency

ORPHA:169079Kr.
Autosomal recessive

Cervical hypertrichosis-peripheral neuropathy syndrome

ORPHA:2218Kr.
Autosomal recessive

Chapare hemorrhagic fever

ORPHA:319244Kr.

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