MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Central retinal vein occlusion

ORPHA:411527Situation
Not applicable

Central serous chorioretinopathy

ORPHA:443079Disease
Not applicable

Centrifugal lipodystrophy

ORPHA:90156Disease

Centronuclear myopathy

ORPHA:595Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked recessive

Cephalocele

ORPHA:268817Clin. grp.

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

ORPHA:504476Disease
Autosomal recessive

Cerebellar ataxia, Cayman type

ORPHA:94122Disease
Autosomal recessive

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

ORPHA:1171Disease
Autosomal dominant, Mitochondrial inheritance

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174Malform.
Autosomal recessive

Cerebellar ataxia-hypogonadism syndrome

ORPHA:1173Disease
Autosomal recessive

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

ORPHA:603448Malform.
Autosomal dominant

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

ORPHA:2246Malform.

Cerebellar liponeurocytoma

ORPHA:251931Disease
Not applicable

Cerebellar-facial-dental syndrome

ORPHA:444072Malform.
Autosomal recessive

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:136Disease
Autosomal dominant

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:199354Disease
Autosomal recessive

Cerebral cortical dysplasia

ORPHA:268950Clin. grp.

Cerebral organic aciduria

ORPHA:79158Cat.

Cerebral proliferative angiopathy

ORPHA:692271Disease

Cerebral sinovenous thrombosis

ORPHA:329217Disease

Cerebral visual impairment

ORPHA:447788Clinical syndrome
Not applicable

Cerebrocostomandibular syndrome

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

Cerebrofacioarticular syndrome

ORPHA:314679Malform.
Autosomal recessive

Cerebrofaciothoracic dysplasia

ORPHA:1394Malform.
Autosomal recessive