MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Malform.
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Malform.
Autosomal recessive

Cleft palate-large ears-small head syndrome

ORPHA:2013Malform.

Cleft palate-lateral synechia syndrome

ORPHA:2016Malform.
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Malform.
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Malform.
Autosomal recessive

Cleidocranial dysplasia

ORPHA:1452Malform.
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Malform.
Autosomal dominant

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Malform.

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Malform.
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Malform.
Not applicable

Cochleosaccular degeneration-cataract syndrome

ORPHA:3233Malform.

Coffin-Lowry syndrome

ORPHA:192Malform.
X-linked dominant

Coffin-Siris syndrome

ORPHA:1465Malform.
Autosomal dominant

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

ORPHA:444077Malform.
Autosomal dominant, Not applicable

Cohen syndrome

ORPHA:193Malform.
Autosomal recessive

Cohen-Gibson syndrome

ORPHA:659396Malform.
Autosomal dominant

Cole-Carpenter syndrome

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

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Malform.
Autosomal dominant

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

ORPHA:603494Malform.

Colobomatous microphthalmia

ORPHA:98938Malform.
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Malform.
Autosomal dominant, Autosomal recessive

Complex lethal osteochondrodysplasia

ORPHA:457378Malform.
Autosomal recessive

Conductive deafness-malformed external ear syndrome

ORPHA:3216Malform.
Unknown