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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Bazex-Dupré-Christol syndrome

ORPHA:113Disease
X-linked dominant

Becker muscular dystrophy

ORPHA:98895Disease
X-linked recessive

Becker nevus syndrome

ORPHA:64755Disease
Not applicable

Beckwith-Wiedemann syndrome

ORPHA:116Malform.
Autosomal dominant, Unknown

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

ORPHA:231127Etio. sub.
Not applicable

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

ORPHA:231130Etio. sub.

Beckwith-Wiedemann syndrome due to CDKN1C mutation

ORPHA:231120Etio. sub.
Autosomal dominant

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

ORPHA:231117Etio. sub.

Beemer-Ertbruggen syndrome

ORPHA:1237Malform.
Autosomal recessive

Behavioral variant of frontotemporal dementia

ORPHA:275864Disease
Autosomal dominant

Behr syndrome

ORPHA:1239Malform.
Autosomal recessive

Behçet disease

ORPHA:117Disease
Multigenic/multifactorial

Bencze syndrome

ORPHA:1241Malform.
Autosomal dominant

Benign Samaritan congenital myopathy

ORPHA:324581Disease
Autosomal recessive

Benign cephalic histiocytosis

ORPHA:157997Disease
Not applicable

Benign concentric annular macular dystrophy

ORPHA:251287Disease
Autosomal dominant

Benign epithelial tumor of salivary glands

ORPHA:276148Disease
Not applicable

Benign hereditary chorea

ORPHA:1429Disease
Autosomal dominant

Benign infantile focal epilepsy with midline spikes and waves during sleep

ORPHA:166308Disease

Benign metanephric tumor

ORPHA:464359Disease
Not applicable

Benign nocturnal alternating hemiplegia of childhood

ORPHA:209973Disease
Unknown

Benign paroxysmal tonic upgaze of childhood with ataxia

ORPHA:1179Disease

Benign paroxysmal torticollis of infancy

ORPHA:71518Disease
Autosomal dominant, Not applicable, Unknown

Benign recurrent intrahepatic cholestasis

ORPHA:65682Disease
Autosomal dominant, Autosomal recessive