MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Congenital subglottic stenosis

ORPHA:141121Мальформация

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Мальформация
Autosomal recessive

Congenitally short costocoracoid ligament

ORPHA:2391Мальформация
Autosomal dominant

Cono-spondylar dysplasia

ORPHA:420794Мальформация
Autosomal recessive

Contractures-developmental delay-Pierre Robin syndrome

ORPHA:436003Мальформация
Unknown

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1484Мальформация
Autosomal recessive, X-linked recessive

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002Мальформация
No data available

Cooks syndrome

ORPHA:1487Мальформация
Autosomal dominant

Cooper-Jabs syndrome

ORPHA:1488Мальформация
Autosomal recessive

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Мальформация
Autosomal recessive

Cornelia de Lange syndrome

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

Corneodermatoosseous syndrome

ORPHA:3194Мальформация
Autosomal dominant

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

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Мальформация
Autosomal recessive

Costello syndrome

ORPHA:3071Мальформация
Autosomal dominant, Not applicable

Coxoauricular syndrome

ORPHA:1508Мальформация
Unknown

Crane-Heise syndrome

ORPHA:1512Мальформация
Autosomal recessive

Cranio-osteoarthropathy

ORPHA:1525Мальформация
Autosomal recessive

Craniodiaphyseal dysplasia

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

Craniodigital-intellectual disability syndrome

ORPHA:1514Мальформация
Autosomal recessive, X-linked recessive

Cranioectodermal dysplasia

ORPHA:1515Мальформация
Autosomal recessive

Craniofacial conodysplasia

ORPHA:85168Мальформация
Autosomal dominant