MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Böök syndrome

ORPHA:1262Malf.
Autosomal dominant

C syndrome

ORPHA:1308Malf.
Not applicable, Unknown

CAMOS syndrome

ORPHA:83472Malf.
Autosomal recessive

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

ORPHA:692193Malf.
Autosomal dominant

CHAND syndrome

ORPHA:1401Malf.
Autosomal recessive

CHARGE syndrome

ORPHA:138Malf.
Autosomal dominant, Unknown

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

ORPHA:599082Malf.
Autosomal dominant

CHIME syndrome

ORPHA:3474Malf.
Autosomal recessive

CK syndrome

ORPHA:251383Malf.
X-linked recessive

CLAPO syndrome

ORPHA:168984Malf.
Unknown

CLOVES syndrome

ORPHA:140944Malf.
Not applicable

CODAS syndrome

ORPHA:1458Malf.
Autosomal recessive

Caffey disease

ORPHA:1310Malf.
Autosomal dominant, Unknown

Calvarial doughnut lesions-bone fragility syndrome

ORPHA:85192Malf.
Autosomal dominant

Campomelia, Cumming type

ORPHA:1318Malf.
Autosomal recessive

Campomelic dysplasia

ORPHA:140Malf.
Autosomal dominant

Camptobrachydactyly

ORPHA:1319Malf.
Autosomal dominant

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327Malf.
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326Malf.
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 3

ORPHA:488434Malf.

Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

ORPHA:1321Malf.

Camptodactyly-joint contractures-facial skeletal defects syndrome

ORPHA:1323Malf.
Autosomal dominant, Autosomal recessive

Camptodactyly-taurinuria syndrome

ORPHA:1325Malf.
Autosomal dominant

Camurati-Engelmann disease

ORPHA:1328Malf.
Autosomal dominant