MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Cranio-osteoarthropathy

ORPHA:1525Malf.
Autosomal recessive

Craniodiaphyseal dysplasia

ORPHA:1513Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Craniodigital-intellectual disability syndrome

ORPHA:1514Malf.
Autosomal recessive, X-linked recessive

Cranioectodermal dysplasia

ORPHA:1515Malf.
Autosomal recessive

Craniofacial conodysplasia

ORPHA:85168Malf.
Autosomal dominant

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

ORPHA:1798Malf.
Autosomal dominant

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

ORPHA:459061Malf.
Autosomal recessive

Craniofacial-deafness-hand syndrome

ORPHA:1529Malf.
Autosomal dominant

Craniofaciofrontodigital syndrome

ORPHA:363705Kr.
Unknown

Craniofrontonasal dysplasia

ORPHA:1520Malf.
X-linked dominant

Craniofrontonasal dysplasia-Poland anomaly syndrome

ORPHA:1521Malf.
Unknown

Craniolenticulosutural dysplasia

ORPHA:50814Malf.
Autosomal recessive

Craniometadiaphyseal dysplasia, wormian bone type

ORPHA:85184Malf.
Autosomal recessive

Craniometaphyseal dysplasia

ORPHA:1522Malf.
Autosomal dominant, Autosomal recessive

Craniomicromelic syndrome

ORPHA:1524Malf.

Craniopharyngioma

ORPHA:54595Kr.
Not applicable

Craniorachischisis

ORPHA:63260Morph.
Multigenic/multifactorial, Not applicable

Craniorhiny

ORPHA:157832Malf.

Craniosynostosis

ORPHA:1531Kat.
Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive

Craniosynostosis, Boston type

ORPHA:1541Malf.
Autosomal dominant

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145Malf.

Craniosynostosis, Philadelphia type

ORPHA:1527Malf.
Autosomal dominant

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

ORPHA:1538Malf.
Autosomal dominant

Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:85199Malf.
Autosomal recessive