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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Coloboma of macula

ORPHA:98945Морф.

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Мальф.
Autosomal dominant

Coloboma of optic disc

ORPHA:98947Морф.

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

ORPHA:603494Мальф.

Colobomatous macrophthalmia-microcornea syndrome

ORPHA:468672Ауру
Autosomal dominant

Colobomatous microphthalmia

ORPHA:98938Мальф.
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

ORPHA:363741Ауру
Autosomal dominant

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Мальф.
Autosomal dominant, Autosomal recessive

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

ORPHA:435930Ауру
Autosomal recessive

Colonic atresia

ORPHA:1198Морф.
Not applicable

Colorado tick fever

ORPHA:83595Ауру
Not applicable

Combined deficiency of factor V and factor VIII

ORPHA:35909Ауру
Autosomal recessive

Combined deficiency of factor VII and factor X

ORPHA:600691Ауру

Combined hamartoma of the retina and retinal pigment epithelium

ORPHA:440727Ауру
Not applicable

Combined hepatocellular carcinoma and cholangiocarcinoma

ORPHA:529852Ауру

Combined immunodeficiency due to CARD11 deficiency

ORPHA:357237Ауру
Autosomal recessive

Combined immunodeficiency due to CD27 deficiency

ORPHA:238505Ауру
Autosomal recessive

Combined immunodeficiency due to CD3gamma deficiency

ORPHA:169082Ауру
Autosomal recessive

Combined immunodeficiency due to COPG1 deficiency

ORPHA:718017Ауру
Autosomal recessive

Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:169090Ауру
Autosomal recessive

Combined immunodeficiency due to DOCK2 deficiency

ORPHA:447737Ауру
Autosomal recessive

Combined immunodeficiency due to DOCK8 deficiency

ORPHA:217390Ауру
Autosomal recessive

Combined immunodeficiency due to FCHO1 deficiency

ORPHA:647804Ауру
Autosomal recessive

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039Ауру
Autosomal dominant