MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Böök syndrome

ORPHA:1262Malform.
Autosomal dominant

C syndrome

ORPHA:1308Malform.
Not applicable, Unknown

CAMOS syndrome

ORPHA:83472Malform.
Autosomal recessive

CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:692193Malform.
Autosomal dominant

CHAND syndrome

ORPHA:1401Malform.
Autosomal recessive

CHARGE syndrome

ORPHA:138Malform.
Autosomal dominant, Unknown

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

ORPHA:599082Malform.
Autosomal dominant

CHIME syndrome

ORPHA:3474Malform.
Autosomal recessive

CK syndrome

ORPHA:251383Malform.
X-linked recessive

CLAPO syndrome

ORPHA:168984Malform.
Unknown

CLOVES syndrome

ORPHA:140944Malform.
Not applicable

CODAS syndrome

ORPHA:1458Malform.
Autosomal recessive

Caffey disease

ORPHA:1310Malform.
Autosomal dominant, Unknown

Calvarial doughnut lesions-bone fragility syndrome

ORPHA:85192Malform.
Autosomal dominant

Campomelia, Cumming type

ORPHA:1318Malform.
Autosomal recessive

Campomelic dysplasia

ORPHA:140Malform.
Autosomal dominant

Camptobrachydactyly

ORPHA:1319Malform.
Autosomal dominant

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327Malform.
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326Malform.
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 3

ORPHA:488434Malform.

Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

ORPHA:1321Malform.

Camptodactyly-joint contractures-facial skeletal defects syndrome

ORPHA:1323Malform.
Autosomal dominant, Autosomal recessive

Camptodactyly-taurinuria syndrome

ORPHA:1325Malform.
Autosomal dominant

Camurati-Engelmann disease

ORPHA:1328Malform.
Autosomal dominant