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

Conductive deafness-ptosis-skeletal anomalies syndrome

ORPHA:3236Malform.

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Malform.

Congenital cataract microcornea with corneal opacity

ORPHA:289499Malform.
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Malform.
Autosomal dominant

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Malform.
Autosomal recessive

Congenital contractural arachnodactyly

ORPHA:115Malform.
Autosomal dominant

Congenital ectropion uveae

ORPHA:91491Malform.

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

ORPHA:708019Malform.
Autosomal dominant

Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355Malform.

Congenital hydrocephalus

ORPHA:2185Malform.
Not applicable

Congenital intrahepatic arterioportal fistula

ORPHA:694228Malform.
Not applicable

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

ORPHA:495875Malform.
Autosomal recessive

Congenital laryngeal palsy

ORPHA:137932Malform.

Congenital laryngomalacia

ORPHA:2373Malform.

Congenital left ventricular aneurysm

ORPHA:1055Malform.

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Malform.
Autosomal dominant

Congenital macroglossia

ORPHA:2430Malform.

Congenital microcoria

ORPHA:566Malform.
Autosomal dominant

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Malform.
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Malform.
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Malform.
Autosomal recessive

Congenital pulmonary airway malformation

ORPHA:2444Malform.
Not applicable

Congenital pulmonary sequestration

ORPHA:3161Malform.

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

ORPHA:697356Malform.
Autosomal dominant