MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis

ORPHA:596008Clin. sub.
Autosomal dominant

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Malform.
Autosomal dominant

Aortic arch defects

ORPHA:1132Cat.
Not applicable

Aortic arch interruption

ORPHA:2299Morph.
Not applicable

Aorto-ventricular tunnel

ORPHA:3400Morph.
Not applicable

Apert syndrome

ORPHA:87Malform.
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Malform.
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Malform.
Autosomal dominant

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

ORPHA:324540Malform.
Autosomal recessive

Aplasia cutis congenita

ORPHA:1114Malform.
Autosomal dominant, Autosomal recessive, Not applicable

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

ORPHA:1116Disease
Autosomal recessive

Aplasia cutis-myopia syndrome

ORPHA:1117Disease
Autosomal recessive

Aplasia of lacrimal and salivary glands

ORPHA:86815Disease
Autosomal dominant

Aplastic anemia-intellectual disability-dwarfism syndrome

ORPHA:611216Disease

Apnea of prematurity

ORPHA:99981Disease
Not applicable

Apolipoprotein A-I deficiency

ORPHA:425Disease
Autosomal dominant

Apparent mineralocorticoid excess

ORPHA:320Disease
Autosomal recessive

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Malform.

Aquagenic palmoplantar keratoderma

ORPHA:498359Disease

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Malform.
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Malform.
Unknown

Arachnoid cyst

ORPHA:2356Morph.
Autosomal recessive, Not applicable

Arachnoiditis

ORPHA:137817Disease
Not applicable

Argentine hemorrhagic fever

ORPHA:319223Disease