MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Central retinal vein occlusion

ORPHA:411527spez. Sit.
Not applicable

Central serous chorioretinopathy

ORPHA:443079Kr.
Not applicable

Centrifugal lipodystrophy

ORPHA:90156Kr.

Centronuclear myopathy

ORPHA:595Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked recessive

Cephalocele

ORPHA:268817Kl. gruppe

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-ectodermal dysplasia syndrome

ORPHA:1174Malf.
Autosomal recessive

Cerebellar ataxia-hypogonadism syndrome

ORPHA:1173Kr.
Autosomal recessive

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

ORPHA:603448Malf.
Autosomal dominant

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

ORPHA:2246Malf.

Cerebellar liponeurocytoma

ORPHA:251931Kr.
Not applicable

Cerebellar-facial-dental syndrome

ORPHA:444072Malf.
Autosomal recessive

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:136Kr.
Autosomal dominant

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:199354Kr.
Autosomal recessive

Cerebral cortical dysplasia

ORPHA:268950Kl. gruppe

Cerebral organic aciduria

ORPHA:79158Kat.

Cerebral proliferative angiopathy

ORPHA:692271Kr.

Cerebral sinovenous thrombosis

ORPHA:329217Kr.

Cerebral visual impairment

ORPHA:447788Clinical syndrome
Not applicable

Cerebrocostomandibular syndrome

ORPHA:1393Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Cerebrofacioarticular syndrome

ORPHA:314679Malf.
Autosomal recessive

Cerebrofaciothoracic dysplasia

ORPHA:1394Malf.
Autosomal recessive