MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Bazex-Dupré-Christol syndrome

ORPHA:113Заболевание
X-linked dominant

Becker muscular dystrophy

ORPHA:98895Заболевание
X-linked recessive

Becker nevus syndrome

ORPHA:64755Заболевание
Not applicable

Beckwith-Wiedemann syndrome

ORPHA:116Мальформация
Autosomal dominant, Unknown

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

ORPHA:231127Этиол. подтип
Not applicable

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

ORPHA:231130Этиол. подтип

Beckwith-Wiedemann syndrome due to CDKN1C mutation

ORPHA:231120Этиол. подтип
Autosomal dominant

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

ORPHA:231117Этиол. подтип

Beemer-Ertbruggen syndrome

ORPHA:1237Мальформация
Autosomal recessive

Behavioral variant of frontotemporal dementia

ORPHA:275864Заболевание
Autosomal dominant

Behr syndrome

ORPHA:1239Мальформация
Autosomal recessive

Behçet disease

ORPHA:117Заболевание
Multigenic/multifactorial

Bencze syndrome

ORPHA:1241Мальформация
Autosomal dominant

Benign Samaritan congenital myopathy

ORPHA:324581Заболевание
Autosomal recessive

Benign cephalic histiocytosis

ORPHA:157997Заболевание
Not applicable

Benign concentric annular macular dystrophy

ORPHA:251287Заболевание
Autosomal dominant

Benign epithelial tumor of salivary glands

ORPHA:276148Заболевание
Not applicable

Benign hereditary chorea

ORPHA:1429Заболевание
Autosomal dominant

Benign infantile focal epilepsy with midline spikes and waves during sleep

ORPHA:166308Заболевание

Benign metanephric tumor

ORPHA:464359Заболевание
Not applicable

Benign nocturnal alternating hemiplegia of childhood

ORPHA:209973Заболевание
Unknown

Benign paroxysmal tonic upgaze of childhood with ataxia

ORPHA:1179Заболевание

Benign paroxysmal torticollis of infancy

ORPHA:71518Заболевание
Autosomal dominant, Not applicable, Unknown

Benign recurrent intrahepatic cholestasis

ORPHA:65682Заболевание
Autosomal dominant, Autosomal recessive