MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Ankylostomiasis

ORPHA:78Kr.
Not applicable

Annular atrophic lichen planus

ORPHA:254411Kr.

Annular epidermolytic ichthyosis

ORPHA:281139Kr.
Autosomal dominant

Annular lichen planus

ORPHA:254424Kr.

Anoctamin-5-related limb-girdle muscular dystrophy R12

ORPHA:206549Kr.
Autosomal recessive

Anterior cutaneous nerve entrapment syndrome

ORPHA:51890Kr.
Not applicable

Anti-glomerular basement membrane disease

ORPHA:375Kr.
Not applicable

Anti-p200 pemphigoid

ORPHA:454710Kr.
Not applicable

Antisynthetase syndrome

ORPHA:81Kr.
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

Aquagenic palmoplantar keratoderma

ORPHA:498359Kr.

Arachnoiditis

ORPHA:137817Kr.
Not applicable

Argentine hemorrhagic fever

ORPHA:319223Kr.

Arginine vasopressin deficiency

ORPHA:178029Kr.
Autosomal dominant, Autosomal recessive, X-linked dominant

Arginine vasopressin resistance

ORPHA:223Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

ORPHA:3145Kr.

Argininemia

ORPHA:90Kr.
Autosomal recessive

Argininosuccinic aciduria

ORPHA:23Kr.
Autosomal recessive