MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis

ORPHA:596008Kl. subt.
Autosomal dominant

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Malf.
Autosomal dominant

Aortic arch defects

ORPHA:1132Kat.
Not applicable

Aortic arch interruption

ORPHA:2299Morph.
Not applicable

Aorto-ventricular tunnel

ORPHA:3400Morph.
Not applicable

Apert syndrome

ORPHA:87Malf.
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Malf.
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Malf.
Autosomal dominant

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

ORPHA:324540Malf.
Autosomal recessive

Aplasia cutis congenita

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

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

ORPHA:1116Kr.
Autosomal recessive

Aplasia cutis-myopia syndrome

ORPHA:1117Kr.
Autosomal recessive

Aplasia of lacrimal and salivary glands

ORPHA:86815Kr.
Autosomal dominant

Aplastic anemia-intellectual disability-dwarfism syndrome

ORPHA:611216Kr.

Apnea of prematurity

ORPHA:99981Kr.
Not applicable

Apolipoprotein A-I deficiency

ORPHA:425Kr.
Autosomal dominant

Apparent mineralocorticoid excess

ORPHA:320Kr.
Autosomal recessive

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Malf.

Aquagenic palmoplantar keratoderma

ORPHA:498359Kr.

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Malf.
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Malf.
Unknown

Arachnoid cyst

ORPHA:2356Morph.
Autosomal recessive, Not applicable

Arachnoiditis

ORPHA:137817Kr.
Not applicable

Argentine hemorrhagic fever

ORPHA:319223Kr.