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

Becker nevus syndrome

ORPHA:64755Kr.
Not applicable

Behavioral variant of frontotemporal dementia

ORPHA:275864Kr.
Autosomal dominant

Behçet disease

ORPHA:117Kr.
Multigenic/multifactorial

Benign Samaritan congenital myopathy

ORPHA:324581Kr.
Autosomal recessive

Benign cephalic histiocytosis

ORPHA:157997Kr.
Not applicable

Benign concentric annular macular dystrophy

ORPHA:251287Kr.
Autosomal dominant

Benign epithelial tumor of salivary glands

ORPHA:276148Kr.
Not applicable

Benign hereditary chorea

ORPHA:1429Kr.
Autosomal dominant

Benign infantile focal epilepsy with midline spikes and waves during sleep

ORPHA:166308Kr.

Benign metanephric tumor

ORPHA:464359Kr.
Not applicable

Benign nocturnal alternating hemiplegia of childhood

ORPHA:209973Kr.
Unknown

Benign paroxysmal tonic upgaze of childhood with ataxia

ORPHA:1179Kr.

Benign paroxysmal torticollis of infancy

ORPHA:71518Kr.
Autosomal dominant, Not applicable, Unknown

Benign recurrent intrahepatic cholestasis

ORPHA:65682Kr.
Autosomal dominant, Autosomal recessive

Benign schwannoma

ORPHA:252164Kr.
Not applicable

Bernard-Soulier syndrome

ORPHA:274Kr.
Autosomal dominant, Autosomal recessive

Best vitelliform macular dystrophy

ORPHA:1243Kr.
Autosomal dominant

Beta-ketothiolase deficiency

ORPHA:134Kr.
Autosomal recessive

Beta-mannosidosis

ORPHA:118Kr.
Autosomal recessive

Beta-propeller protein-associated neurodegeneration

ORPHA:329284Kr.
X-linked dominant

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

ORPHA:119Kr.
Autosomal recessive

Beta-thalassemia intermedia

ORPHA:231222Kr.
Autosomal recessive

Beta-thalassemia major

ORPHA:231214Kr.
Autosomal recessive

Beta-thalassemia-X-linked thrombocytopenia syndrome

ORPHA:231393Kr.
X-linked recessive