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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Bazex-Dupré-Christol syndrome

ORPHA:113Ауру
X-linked dominant

Becker muscular dystrophy

ORPHA:98895Ауру
X-linked recessive

Becker nevus syndrome

ORPHA:64755Ауру
Not applicable

Beckwith-Wiedemann syndrome

ORPHA:116Мальф.
Autosomal dominant, Unknown

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

ORPHA:231127Этио. под.
Not applicable

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

ORPHA:231130Этио. под.

Beckwith-Wiedemann syndrome due to CDKN1C mutation

ORPHA:231120Этио. под.
Autosomal dominant

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

ORPHA:231117Этио. под.

Beemer-Ertbruggen syndrome

ORPHA:1237Мальф.
Autosomal recessive

Behavioral variant of frontotemporal dementia

ORPHA:275864Ауру
Autosomal dominant

Behr syndrome

ORPHA:1239Мальф.
Autosomal recessive

Behçet disease

ORPHA:117Ауру
Multigenic/multifactorial

Bencze syndrome

ORPHA:1241Мальф.
Autosomal dominant

Benign Samaritan congenital myopathy

ORPHA:324581Ауру
Autosomal recessive

Benign cephalic histiocytosis

ORPHA:157997Ауру
Not applicable

Benign concentric annular macular dystrophy

ORPHA:251287Ауру
Autosomal dominant

Benign epithelial tumor of salivary glands

ORPHA:276148Ауру
Not applicable

Benign hereditary chorea

ORPHA:1429Ауру
Autosomal dominant

Benign infantile focal epilepsy with midline spikes and waves during sleep

ORPHA:166308Ауру

Benign metanephric tumor

ORPHA:464359Ауру
Not applicable

Benign nocturnal alternating hemiplegia of childhood

ORPHA:209973Ауру
Unknown

Benign paroxysmal tonic upgaze of childhood with ataxia

ORPHA:1179Ауру

Benign paroxysmal torticollis of infancy

ORPHA:71518Ауру
Autosomal dominant, Not applicable, Unknown

Benign recurrent intrahepatic cholestasis

ORPHA:65682Ауру
Autosomal dominant, Autosomal recessive