MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Chylomicron retention disease

ORPHA:71Kr.
Autosomal recessive

Chylous ascites

ORPHA:1160Kr.

Chédiak-Higashi syndrome

ORPHA:167Kr.
Autosomal recessive

Circumscribed palmoplantar hypokeratosis

ORPHA:69744Kr.
Unknown

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854Kr.
Autosomal recessive

Citrin deficiency

ORPHA:247582Kat.
Autosomal recessive

Citrullinemia

ORPHA:187Kat.
Autosomal recessive

Citrullinemia type I

ORPHA:247525Kr.
Autosomal recessive

Citrullinemia type II

ORPHA:247585Kr.
Autosomal recessive

Clark-Baraitser syndrome

ORPHA:600731Malf.

Class I glucose-6-phosphate dehydrogenase deficiency

ORPHA:466026Kr.
X-linked recessive

Classic Hodgkin lymphoma

ORPHA:391Kr.
Unknown

Classic Hodgkin lymphoma, lymphocyte-depleted type

ORPHA:98846His. subt.

Classic Hodgkin lymphoma, lymphocyte-rich type

ORPHA:98845His. subt.

Classic Hodgkin lymphoma, mixed cellularity type

ORPHA:98844His. subt.

Classic Hodgkin lymphoma, nodular sclerosis type

ORPHA:98843His. subt.

Classic bladder exstrophy

ORPHA:93930Kl. subt.
Multigenic/multifactorial

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ORPHA:90794Kr.
Autosomal recessive

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

ORPHA:315306Kl. subt.
Autosomal recessive

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

ORPHA:315311Kl. subt.
Autosomal recessive

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

ORPHA:325524Kl. subt.
Autosomal recessive

Classic eosinophilic pustular folliculitis

ORPHA:617408Kr.

Classic galactosemia

ORPHA:79239Kr.
Autosomal recessive

Classic glucose transporter type 1 deficiency syndrome

ORPHA:71277Kr.
Autosomal dominant, Autosomal recessive