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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

ORPHA:1798Malform.
Autosomal dominant

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

ORPHA:459061Malform.
Autosomal recessive

Craniofacial-deafness-hand syndrome

ORPHA:1529Malform.
Autosomal dominant

Craniofrontonasal dysplasia

ORPHA:1520Malform.
X-linked dominant

Craniofrontonasal dysplasia-Poland anomaly syndrome

ORPHA:1521Malform.
Unknown

Craniolenticulosutural dysplasia

ORPHA:50814Malform.
Autosomal recessive

Craniometadiaphyseal dysplasia, wormian bone type

ORPHA:85184Malform.
Autosomal recessive

Craniometaphyseal dysplasia

ORPHA:1522Malform.
Autosomal dominant, Autosomal recessive

Craniomicromelic syndrome

ORPHA:1524Malform.

Craniorhiny

ORPHA:157832Malform.

Craniosynostosis, Boston type

ORPHA:1541Malform.
Autosomal dominant

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145Malform.

Craniosynostosis, Philadelphia type

ORPHA:1527Malform.
Autosomal dominant

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

ORPHA:1538Malform.
Autosomal dominant

Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:85199Malform.
Autosomal recessive

Craniosynostosis-dental anomalies

ORPHA:284149Malform.
Autosomal recessive

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ORPHA:647681Malform.

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

ORPHA:171839Malform.

Craniosynostosis-intracranial calcifications syndrome

ORPHA:52054Malform.
Autosomal recessive

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

ORPHA:565858Malform.
Autosomal dominant

Craniotelencephalic dysplasia

ORPHA:1528Malform.

Crisponi syndrome

ORPHA:1545Malform.
Autosomal recessive

Crossed polysyndactyly

ORPHA:2935Malform.
Autosomal dominant

Crouzon syndrome

ORPHA:207Malform.
Autosomal dominant