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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Craniosynostosis-dental anomalies

ORPHA:284149Malform.
Autosomal recessive

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

ORPHA:647681Malform.

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

ORPHA:171839Malform.

Craniosynostosis-intracranial calcifications syndrome

ORPHA:52054Malform.
Autosomal recessive

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

ORPHA:565858Malform.
Autosomal dominant

Craniotelencephalic dysplasia

ORPHA:1528Malform.

Creatine deficiency syndrome

ORPHA:79172Clin. grp.
Autosomal recessive, Not applicable, X-linked recessive

Cree leukoencephalopathy

ORPHA:99854Clin. sub.
Autosomal recessive

Creeping myiasis

ORPHA:504Disease
Not applicable

Crigler-Najjar syndrome

ORPHA:205Disease
Autosomal recessive

Crigler-Najjar syndrome type 1

ORPHA:79234Clin. sub.
Autosomal recessive

Crigler-Najjar syndrome type 2

ORPHA:79235Clin. sub.
Autosomal recessive

Crimean-Congo hemorrhagic fever

ORPHA:99827Disease

Crisponi syndrome

ORPHA:1545Malform.
Autosomal recessive

Criss-cross heart

ORPHA:1461Morph.
Unknown

Cronkhite-Canada syndrome

ORPHA:2930Disease
Not applicable

Crossed polysyndactyly

ORPHA:2935Malform.
Autosomal dominant

Crouzon syndrome

ORPHA:207Malform.
Autosomal dominant

Crouzon syndrome-acanthosis nigricans syndrome

ORPHA:93262Malform.
Autosomal dominant, Not applicable

Cryoglobulinemic vasculitis

ORPHA:91138Disease
Not applicable

Cryptococcosis

ORPHA:1546Disease
Not applicable

Cryptogenic late-onset epileptic spasms

ORPHA:163708Disease

Cryptogenic multifocal ulcerous stenosing enteritis

ORPHA:468635Disease
Autosomal recessive

Cryptogenic organizing pneumonia

ORPHA:1302Disease
Not applicable