MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Cranio-osteoarthropathy

ORPHA:1525Malform.
Autosomal recessive

Craniodiaphyseal dysplasia

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

Craniodigital-intellectual disability syndrome

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

Cranioectodermal dysplasia

ORPHA:1515Malform.
Autosomal recessive

Craniofacial conodysplasia

ORPHA:85168Malform.
Autosomal dominant

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

Craniofaciofrontodigital syndrome

ORPHA:363705Disease
Unknown

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.

Craniopharyngioma

ORPHA:54595Disease
Not applicable

Craniorachischisis

ORPHA:63260Morph.
Multigenic/multifactorial, Not applicable

Craniorhiny

ORPHA:157832Malform.

Craniosynostosis

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

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