MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Craniosynostosis-dental anomalies

ORPHA:284149Мальформация
Autosomal recessive

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ORPHA:647681Мальформация

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

ORPHA:171839Мальформация

Craniosynostosis-intracranial calcifications syndrome

ORPHA:52054Мальформация
Autosomal recessive

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

ORPHA:565858Мальформация
Autosomal dominant

Craniotelencephalic dysplasia

ORPHA:1528Мальформация

Creatine deficiency syndrome

ORPHA:79172Клин. группа
Autosomal recessive, Not applicable, X-linked recessive

Cree leukoencephalopathy

ORPHA:99854Клин. подтип
Autosomal recessive

Creeping myiasis

ORPHA:504Заболевание
Not applicable

Crigler-Najjar syndrome

ORPHA:205Заболевание
Autosomal recessive

Crigler-Najjar syndrome type 1

ORPHA:79234Клин. подтип
Autosomal recessive

Crigler-Najjar syndrome type 2

ORPHA:79235Клин. подтип
Autosomal recessive

Crimean-Congo hemorrhagic fever

ORPHA:99827Заболевание

Crisponi syndrome

ORPHA:1545Мальформация
Autosomal recessive

Criss-cross heart

ORPHA:1461Морф. аномалия
Unknown

Cronkhite-Canada syndrome

ORPHA:2930Заболевание
Not applicable

Crossed polysyndactyly

ORPHA:2935Мальформация
Autosomal dominant

Crouzon syndrome

ORPHA:207Мальформация
Autosomal dominant

Crouzon syndrome-acanthosis nigricans syndrome

ORPHA:93262Мальформация
Autosomal dominant, Not applicable

Cryoglobulinemic vasculitis

ORPHA:91138Заболевание
Not applicable

Cryptococcosis

ORPHA:1546Заболевание
Not applicable

Cryptogenic late-onset epileptic spasms

ORPHA:163708Заболевание

Cryptogenic multifocal ulcerous stenosing enteritis

ORPHA:468635Заболевание
Autosomal recessive

Cryptogenic organizing pneumonia

ORPHA:1302Заболевание
Not applicable