MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Мальф.
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Мальф.
Autosomal recessive

Cleft palate-large ears-small head syndrome

ORPHA:2013Мальф.

Cleft palate-lateral synechia syndrome

ORPHA:2016Мальф.
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Мальф.
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Мальф.
Autosomal recessive

Cleidocranial dysplasia

ORPHA:1452Мальф.
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Мальф.
Autosomal dominant

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Мальф.

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Мальф.
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Мальф.
Not applicable

Cochleosaccular degeneration-cataract syndrome

ORPHA:3233Мальф.

Coffin-Lowry syndrome

ORPHA:192Мальф.
X-linked dominant

Coffin-Siris syndrome

ORPHA:1465Мальф.
Autosomal dominant

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

ORPHA:444077Мальф.
Autosomal dominant, Not applicable

Cohen syndrome

ORPHA:193Мальф.
Autosomal recessive

Cohen-Gibson syndrome

ORPHA:659396Мальф.
Autosomal dominant

Cole-Carpenter syndrome

ORPHA:2050Мальф.
Autosomal dominant, Autosomal recessive, Not applicable

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Мальф.
Autosomal dominant

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

ORPHA:603494Мальф.

Colobomatous microphthalmia

ORPHA:98938Мальф.
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Мальф.
Autosomal dominant, Autosomal recessive

Complex lethal osteochondrodysplasia

ORPHA:457378Мальф.
Autosomal recessive

Conductive deafness-malformed external ear syndrome

ORPHA:3216Мальф.
Unknown