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

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Мальформация
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Мальформация
Autosomal recessive

Cleft palate-large ears-small head syndrome

ORPHA:2013Мальформация

Cleft palate-lateral synechia syndrome

ORPHA:2016Мальформация
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Мальформация
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Мальформация
Autosomal recessive

Cleidocranial dysplasia

ORPHA:1452Мальформация
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Мальформация
Autosomal dominant

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Мальформация

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Мальформация
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Мальформация
Not applicable

Cochleosaccular degeneration-cataract syndrome

ORPHA:3233Мальформация

Coffin-Lowry syndrome

ORPHA:192Мальформация
X-linked dominant

Coffin-Siris syndrome

ORPHA:1465Мальформация
Autosomal dominant

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

ORPHA:444077Мальформация
Autosomal dominant, Not applicable

Cohen syndrome

ORPHA:193Мальформация
Autosomal recessive

Cohen-Gibson syndrome

ORPHA:659396Мальформация
Autosomal dominant

Cole-Carpenter syndrome

ORPHA:2050Мальформация
Autosomal dominant, Autosomal recessive, Not applicable

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Мальформация
Autosomal dominant

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

ORPHA:603494Мальформация

Colobomatous microphthalmia

ORPHA:98938Мальформация
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Мальформация
Autosomal dominant, Autosomal recessive

Complex lethal osteochondrodysplasia

ORPHA:457378Мальформация
Autosomal recessive

Conductive deafness-malformed external ear syndrome

ORPHA:3216Мальформация
Unknown