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

Conductive deafness-ptosis-skeletal anomalies syndrome

ORPHA:3236Malf.

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Malf.

Congenital cataract microcornea with corneal opacity

ORPHA:289499Malf.
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Malf.
Autosomal dominant

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Malf.
Autosomal recessive

Congenital contractural arachnodactyly

ORPHA:115Malf.
Autosomal dominant

Congenital ectropion uveae

ORPHA:91491Malf.

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

ORPHA:708019Malf.
Autosomal dominant

Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355Malf.

Congenital hydrocephalus

ORPHA:2185Malf.
Not applicable

Congenital intrahepatic arterioportal fistula

ORPHA:694228Malf.
Not applicable

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

ORPHA:495875Malf.
Autosomal recessive

Congenital laryngeal palsy

ORPHA:137932Malf.

Congenital laryngomalacia

ORPHA:2373Malf.

Congenital left ventricular aneurysm

ORPHA:1055Malf.

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Malf.
Autosomal dominant

Congenital macroglossia

ORPHA:2430Malf.

Congenital microcoria

ORPHA:566Malf.
Autosomal dominant

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Malf.
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Malf.
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Malf.
Autosomal recessive

Congenital pulmonary airway malformation

ORPHA:2444Malf.
Not applicable

Congenital pulmonary sequestration

ORPHA:3161Malf.

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

ORPHA:697356Malf.
Autosomal dominant