MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Coloboma of macula

ORPHA:98945Morph.

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Malform.
Autosomal dominant

Coloboma of optic disc

ORPHA:98947Morph.

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

ORPHA:603494Malform.

Colobomatous macrophthalmia-microcornea syndrome

ORPHA:468672Disease
Autosomal dominant

Colobomatous microphthalmia

ORPHA:98938Malform.
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

ORPHA:363741Disease
Autosomal dominant

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Malform.
Autosomal dominant, Autosomal recessive

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

ORPHA:435930Disease
Autosomal recessive

Colonic atresia

ORPHA:1198Morph.
Not applicable

Colorado tick fever

ORPHA:83595Disease
Not applicable

Combined deficiency of factor V and factor VIII

ORPHA:35909Disease
Autosomal recessive

Combined deficiency of factor VII and factor X

ORPHA:600691Disease

Combined hamartoma of the retina and retinal pigment epithelium

ORPHA:440727Disease
Not applicable

Combined hepatocellular carcinoma and cholangiocarcinoma

ORPHA:529852Disease

Combined immunodeficiency due to CARD11 deficiency

ORPHA:357237Disease
Autosomal recessive

Combined immunodeficiency due to CD27 deficiency

ORPHA:238505Disease
Autosomal recessive

Combined immunodeficiency due to CD3gamma deficiency

ORPHA:169082Disease
Autosomal recessive

Combined immunodeficiency due to COPG1 deficiency

ORPHA:718017Disease
Autosomal recessive

Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:169090Disease
Autosomal recessive

Combined immunodeficiency due to DOCK2 deficiency

ORPHA:447737Disease
Autosomal recessive

Combined immunodeficiency due to DOCK8 deficiency

ORPHA:217390Disease
Autosomal recessive

Combined immunodeficiency due to FCHO1 deficiency

ORPHA:647804Disease
Autosomal recessive

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039Disease
Autosomal dominant