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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

ORPHA:1798Порок
Autosomal dominant

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

ORPHA:459061Порок
Autosomal recessive

Craniofacial-deafness-hand syndrome

ORPHA:1529Порок
Autosomal dominant

Craniofrontonasal dysplasia

ORPHA:1520Порок
X-linked dominant

Craniofrontonasal dysplasia-Poland anomaly syndrome

ORPHA:1521Порок
Unknown

Craniolenticulosutural dysplasia

ORPHA:50814Порок
Autosomal recessive

Craniometadiaphyseal dysplasia, wormian bone type

ORPHA:85184Порок
Autosomal recessive

Craniometaphyseal dysplasia

ORPHA:1522Порок
Autosomal dominant, Autosomal recessive

Craniomicromelic syndrome

ORPHA:1524Порок

Craniorhiny

ORPHA:157832Порок

Craniosynostosis, Boston type

ORPHA:1541Порок
Autosomal dominant

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145Порок

Craniosynostosis, Philadelphia type

ORPHA:1527Порок
Autosomal dominant

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

ORPHA:1538Порок
Autosomal dominant

Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:85199Порок
Autosomal recessive

Craniosynostosis-dental anomalies

ORPHA:284149Порок
Autosomal recessive

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

ORPHA:647681Порок

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

ORPHA:171839Порок

Craniosynostosis-intracranial calcifications syndrome

ORPHA:52054Порок
Autosomal recessive

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

ORPHA:565858Порок
Autosomal dominant

Craniotelencephalic dysplasia

ORPHA:1528Порок

Crisponi syndrome

ORPHA:1545Порок
Autosomal recessive

Crossed polysyndactyly

ORPHA:2935Порок
Autosomal dominant

Crouzon syndrome

ORPHA:207Порок
Autosomal dominant