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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Congenital subglottic stenosis

ORPHA:141121Порок

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Порок
Autosomal recessive

Congenitally short costocoracoid ligament

ORPHA:2391Порок
Autosomal dominant

Cono-spondylar dysplasia

ORPHA:420794Порок
Autosomal recessive

Contractures-developmental delay-Pierre Robin syndrome

ORPHA:436003Порок
Unknown

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1484Порок
Autosomal recessive, X-linked recessive

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002Порок
No data available

Cooks syndrome

ORPHA:1487Порок
Autosomal dominant

Cooper-Jabs syndrome

ORPHA:1488Порок
Autosomal recessive

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Порок
Autosomal recessive

Cornelia de Lange syndrome

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

Corneodermatoosseous syndrome

ORPHA:3194Порок
Autosomal dominant

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

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Порок
Autosomal recessive

Costello syndrome

ORPHA:3071Порок
Autosomal dominant, Not applicable

Coxoauricular syndrome

ORPHA:1508Порок
Unknown

Crane-Heise syndrome

ORPHA:1512Порок
Autosomal recessive

Cranio-osteoarthropathy

ORPHA:1525Порок
Autosomal recessive

Craniodiaphyseal dysplasia

ORPHA:1513Порок
Autosomal dominant, Autosomal recessive, Not applicable

Craniodigital-intellectual disability syndrome

ORPHA:1514Порок
Autosomal recessive, X-linked recessive

Cranioectodermal dysplasia

ORPHA:1515Порок
Autosomal recessive

Craniofacial conodysplasia

ORPHA:85168Порок
Autosomal dominant