MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Coloboma of macula

ORPHA:98945Морф. аномалия

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Мальформация
Autosomal dominant

Coloboma of optic disc

ORPHA:98947Морф. аномалия

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

ORPHA:603494Мальформация

Colobomatous macrophthalmia-microcornea syndrome

ORPHA:468672Заболевание
Autosomal dominant

Colobomatous microphthalmia

ORPHA:98938Мальформация
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

ORPHA:363741Заболевание
Autosomal dominant

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Мальформация
Autosomal dominant, Autosomal recessive

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

ORPHA:435930Заболевание
Autosomal recessive

Colonic atresia

ORPHA:1198Морф. аномалия
Not applicable

Colorado tick fever

ORPHA:83595Заболевание
Not applicable

Combined deficiency of factor V and factor VIII

ORPHA:35909Заболевание
Autosomal recessive

Combined deficiency of factor VII and factor X

ORPHA:600691Заболевание

Combined hamartoma of the retina and retinal pigment epithelium

ORPHA:440727Заболевание
Not applicable

Combined hepatocellular carcinoma and cholangiocarcinoma

ORPHA:529852Заболевание

Combined immunodeficiency due to CARD11 deficiency

ORPHA:357237Заболевание
Autosomal recessive

Combined immunodeficiency due to CD27 deficiency

ORPHA:238505Заболевание
Autosomal recessive

Combined immunodeficiency due to CD3gamma deficiency

ORPHA:169082Заболевание
Autosomal recessive

Combined immunodeficiency due to COPG1 deficiency

ORPHA:718017Заболевание
Autosomal recessive

Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:169090Заболевание
Autosomal recessive

Combined immunodeficiency due to DOCK2 deficiency

ORPHA:447737Заболевание
Autosomal recessive

Combined immunodeficiency due to DOCK8 deficiency

ORPHA:217390Заболевание
Autosomal recessive

Combined immunodeficiency due to FCHO1 deficiency

ORPHA:647804Заболевание
Autosomal recessive

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039Заболевание
Autosomal dominant