MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Coloboma of macula

ORPHA:98945Morph.

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Malf.
Autosomal dominant

Coloboma of optic disc

ORPHA:98947Morph.

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

ORPHA:603494Malf.

Colobomatous macrophthalmia-microcornea syndrome

ORPHA:468672Kr.
Autosomal dominant

Colobomatous microphthalmia

ORPHA:98938Malf.
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

ORPHA:363741Kr.
Autosomal dominant

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Malf.
Autosomal dominant, Autosomal recessive

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

ORPHA:435930Kr.
Autosomal recessive

Colonic atresia

ORPHA:1198Morph.
Not applicable

Colorado tick fever

ORPHA:83595Kr.
Not applicable

Combined deficiency of factor V and factor VIII

ORPHA:35909Kr.
Autosomal recessive

Combined deficiency of factor VII and factor X

ORPHA:600691Kr.

Combined hamartoma of the retina and retinal pigment epithelium

ORPHA:440727Kr.
Not applicable

Combined hepatocellular carcinoma and cholangiocarcinoma

ORPHA:529852Kr.

Combined immunodeficiency due to CARD11 deficiency

ORPHA:357237Kr.
Autosomal recessive

Combined immunodeficiency due to CD27 deficiency

ORPHA:238505Kr.
Autosomal recessive

Combined immunodeficiency due to CD3gamma deficiency

ORPHA:169082Kr.
Autosomal recessive

Combined immunodeficiency due to COPG1 deficiency

ORPHA:718017Kr.
Autosomal recessive

Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:169090Kr.
Autosomal recessive

Combined immunodeficiency due to DOCK2 deficiency

ORPHA:447737Kr.
Autosomal recessive

Combined immunodeficiency due to DOCK8 deficiency

ORPHA:217390Kr.
Autosomal recessive

Combined immunodeficiency due to FCHO1 deficiency

ORPHA:647804Kr.
Autosomal recessive

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039Kr.
Autosomal dominant