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

FRAXE intellectual disability

ORPHA:100973Kr.
X-linked recessive

FRAXF syndrome

ORPHA:100974Kr.
Unknown

FTH1-related iron overload

ORPHA:247790Kr.
Autosomal dominant

Fabry disease

ORPHA:324Kr.
X-linked dominant, X-linked recessive

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

ORPHA:352712Kr.
Autosomal recessive

Facial onset sensory and motor neuronopathy

ORPHA:85162Kr.
Unknown

Facioscapulohumeral dystrophy

ORPHA:269Kr.
Autosomal dominant

Factor V short isoforms-related bleeding disorder

ORPHA:599519Kr.
Autosomal dominant

Familial Alzheimer-like prion disease

ORPHA:280397Kr.
Autosomal dominant

Familial Chilblain lupus

ORPHA:481662Kr.
Autosomal dominant

Familial Mediterranean fever

ORPHA:342Kr.
Autosomal dominant, Autosomal recessive

Familial abdominal aortic aneurysm

ORPHA:86Kr.

Familial acute necrotizing encephalopathy

ORPHA:88619Kr.
Autosomal dominant

Familial adenomatous polyposis

ORPHA:733Kr.
Autosomal dominant, Autosomal recessive

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

ORPHA:95700Kr.
Autosomal recessive

Familial adult myoclonic epilepsy

ORPHA:86814Kr.
Autosomal dominant

Familial advanced sleep-phase syndrome

ORPHA:164736Kr.
Autosomal dominant

Familial anetoderma

ORPHA:228277Kr.
Autosomal dominant, Autosomal recessive

Familial aortic dissection

ORPHA:229Kr.

Familial articular hypermobility syndrome

ORPHA:2295Kr.
Autosomal dominant

Familial atrial myxoma

ORPHA:615Kr.
Autosomal dominant

Familial atypical multiple mole melanoma syndrome

ORPHA:404560Kr.
Autosomal dominant

Familial avascular necrosis of femoral head

ORPHA:86820Kr.
Autosomal dominant

Familial benign copper deficiency

ORPHA:1551Kr.