MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Cooper-Jabs syndrome

ORPHA:1488Мальформация
Autosomal recessive

Coralliform cataract

ORPHA:98990Клин. подтип
Autosomal dominant

Corneal dystrophy

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

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Мальформация
Autosomal recessive

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662Заболевание
Autosomal dominant

Cornelia de Lange syndrome

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

Corneodermatoosseous syndrome

ORPHA:3194Мальформация
Autosomal dominant

Coronary arterial fistula

ORPHA:2041Морф. аномалия
Not applicable

Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:2508Мальформация
X-linked recessive

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:52055Мальформация
X-linked recessive

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:459074Мальформация
Unknown

Corpus callosum agenesis-neuronopathy syndrome

ORPHA:1496Заболевание
Autosomal recessive

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Мальформация
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:3071Мальформация
Autosomal dominant, Not applicable

Cowden syndrome

ORPHA:201Клин. подтип
Autosomal dominant

Coxoauricular syndrome

ORPHA:1508Мальформация
Unknown

Coxopodopatellar syndrome

ORPHA:1509Заболевание
Autosomal dominant

Cramp-fasciculation syndrome

ORPHA:581271Заболевание
Autosomal dominant

Crane-Heise syndrome

ORPHA:1512Мальформация
Autosomal recessive

Cranial meningocele

ORPHA:268820Морф. аномалия

Cranio-cervical dystonia with laryngeal and upper-limb involvement

ORPHA:420485Заболевание
Autosomal dominant