MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Bazex-Dupré-Christol syndrome

ORPHA:113Kr.
X-linked dominant

Becker muscular dystrophy

ORPHA:98895Kr.
X-linked recessive

Becker nevus syndrome

ORPHA:64755Kr.
Not applicable

Beckwith-Wiedemann syndrome

ORPHA:116Malf.
Autosomal dominant, Unknown

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

ORPHA:231127Ätl. subt.
Not applicable

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

ORPHA:231130Ätl. subt.

Beckwith-Wiedemann syndrome due to CDKN1C mutation

ORPHA:231120Ätl. subt.
Autosomal dominant

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

ORPHA:231117Ätl. subt.

Beemer-Ertbruggen syndrome

ORPHA:1237Malf.
Autosomal recessive

Behavioral variant of frontotemporal dementia

ORPHA:275864Kr.
Autosomal dominant

Behr syndrome

ORPHA:1239Malf.
Autosomal recessive

Behçet disease

ORPHA:117Kr.
Multigenic/multifactorial

Bencze syndrome

ORPHA:1241Malf.
Autosomal dominant

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