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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Cooper-Jabs syndrome

ORPHA:1488Порок
Autosomal recessive

Coralliform cataract

ORPHA:98990Клин. подт.
Autosomal dominant

Corneal dystrophy

ORPHA:34533Кат.
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Порок
Autosomal recessive

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662Заболевание
Autosomal dominant

Cornelia de Lange syndrome

ORPHA:199Порок
Autosomal dominant, Not applicable, X-linked recessive

Corneodermatoosseous syndrome

ORPHA:3194Порок
Autosomal dominant

Coronary arterial fistula

ORPHA:2041Морф.
Not applicable

Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:2508Порок
X-linked recessive

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:52055Порок
X-linked recessive

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:459074Порок
Unknown

Corpus callosum agenesis-neuronopathy syndrome

ORPHA:1496Заболевание
Autosomal recessive

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Порок
Autosomal recessive

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

ORPHA:300570Заболевание
Autosomal dominant

Corticobasal syndrome

ORPHA:454887Заболевание

Corticosteroid-binding globulin deficiency

ORPHA:199247Заболевание
Semi-dominant

Costello syndrome

ORPHA:3071Порок
Autosomal dominant, Not applicable

Cowden syndrome

ORPHA:201Клин. подт.
Autosomal dominant

Coxoauricular syndrome

ORPHA:1508Порок
Unknown

Coxopodopatellar syndrome

ORPHA:1509Заболевание
Autosomal dominant

Cramp-fasciculation syndrome

ORPHA:581271Заболевание
Autosomal dominant

Crane-Heise syndrome

ORPHA:1512Порок
Autosomal recessive

Cranial meningocele

ORPHA:268820Морф.

Cranio-cervical dystonia with laryngeal and upper-limb involvement

ORPHA:420485Заболевание
Autosomal dominant