Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Bell’s Palsy

Also known as: Antoni's Palsy facial nerve palsy facial paralysis idiopathic facial palsy refrigeration palsy

NORD Rare Disease Report
Bernard-Soulier Syndrome

Also known as: BSS giant platelet syndrome hemorrhagiparous thrombocytic dystrophy hereditary platelet disorder macrothrombocytopenia, familial Bernard-Soulier type platelet glycoprotein Ib deficiency Von Willebrand factor receptor deficiency

NORD Rare Disease Report
Berylliosis

Also known as: Acute Beryllium Disease Beryllium Granulomatosis Beryllium Pneumonosis Beryllium Poisoning

NORD Rare Disease Report
Best Vitelliform Macular Dystrophy

Also known as: Best macular dystrophy Best disease vitelline dystrophy vitelliruptive degeneration macular degeneration, polymorphic vitelline vitelliform macular dystrophy, early-onset vitelliform macular dystrophy, juvenile-onset vitelliform macular dystrophy, type 2

NORD Rare Disease Report
Beta-Mannosidosis

Also known as: beta-D-mannosidosis beta-mannosidase deficiency mannosidosis, beta A, lysosomal lysosomal beta-mannosidase deficiency

NORD Rare Disease Report
Binswanger Disease

Also known as: Binswanger encephalopathy multi-infarct dementia, Binswanger type subcortical arteriosclerotic encephalopathy, SAE subcortical dementia subcortical ischemic vascular disease vascular dementia, Binswanger type

* También disponible en español

NORD Rare Disease Report
Biotinidase Deficiency

Also known as: BTD deficiency infantile multiple carboxylase deficiency juvenile multiple carboxylase deficiency late-onset multiple carboxylase deficiency multiple carboxylase deficiency, due to biotinidase deficiency delayed-onset biotinidase deficiency profound biotinidase deficiency partial biotinidase deficiency

NORD Rare Disease Report
Birt-Hogg-Dubé Syndrome

Also known as: BHD syndrome Hornstein-Knickenberg syndrome

* También disponible en español

NORD Rare Disease Report
Björnstad Syndrome

Also known as: deafness and pili torti, Bjornstad type pili torti and nerve deafness; PTND pili torti-sensorineural hearing loss pili torti-deafness syndrome BS

* También disponible en español

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