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Rare Disease Database

Search Results for: B

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


Also known as: Piriplasmosis, Redwater Fever


Also known as: Balantidiosis, Balantidosis, Ciliary Dysentery

Baller-Gerold Syndrome

Also known as: craniosynostosis-radial aplasia syndrome, craniosynostosis with radial defects

Balo Disease

Also known as: Concentric Sclerosis, Encephalitis Periaxialis Concentrica, Leukoencephalitis Periaxialis Concentric

Banti’s Syndrome

Also known as: Banti's Disease, Hypersplenism, Idiopathic congestive splenomegaly, Idiopathic portal hypertension

Barakat Syndrome

Also known as: HDR syndrome, hypoparathyroidism, sensorineural deafness, and renal disease

Barth Syndrome

Also known as: X linked endocardial fibroelastosis (EFE), X linked cardioskeletal myopathy and neutropenia, 3-methylglutaconic aciduria, Type II (MGA, Type II), cardioskeletal myopathy, Barth type, cardioskeletal myopathy with neutropenia and abnormal mitochondria, endocardial fibroelastosis, type 2 (EFE2)


Subdivisions: Carrion's disease, cat scratch disease, trench fever

Bartter Syndrome

Also known as: salt-losing tubulopathy with secondary hyperaldosteronism
Subdivisions: Bartter syndrome type 1 (SLC12A1 gene), Bartter syndrome type 2 (KCNJ1 gene), Bartter syndrome type 3 (CLCNKB gene), Bartter syndrome type 4A (BSND gene), Bartter syndrome type 4B (CLCNKA and CLCNKB genes), Bartter syndrome type 5 (MAGED2 gene)

Beckwith-Wiedemann Syndrome

Also known as: Beckwith-Syndrome, Beckwith-Wiedemann spectrum, BWS, EMG syndrome, exomphalos-macroglossia-gigantism syndrome, hypoglycemia with macroglossia, omphalocele-visceromegaly-macroglossia syndrome, visceromegaly-umbilical hernia-macroglossia syndrome, Wiedemann-Beckwith syndrome

Behçet’s Syndrome

Also known as: Adamantiades-Behcet's syndrome, BD, Behcet's disease
Subdivisions: neuro-Behcet, ocular-Behcet, vasculo-Behcet


Also known as: Dichuchwa, Endemic Syphilis, Frenga, Njovera, Nonvenereal Syphilis, Siti, Treponematosis, Bejel Type

Bell’s Palsy

Also known as: Antoni's Palsy, Facial Nerve Palsy, Facial Paralysis, Idiopathic Facial Palsy, Refrigeration Palsy

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


Also known as: Acute Beryllium Disease, Beryllium Granulomatosis, Beryllium Pneumonosis, Beryllium Poisoning
Subdivisions: Acute Berylliosis (Acute Beryllium Disease), Chronic Berylliosis (Chronic Beryllium Disease [CBD])

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

Beta Thalassemia

Also known as: Mediterranean anemia
Subdivisions: beta thalassemia major (Cooley’s anemia), beta thalassemia intermedia, beta thalassemia minor (beta thalassemia trait), dominant beta thalassemia

Bile Acid Synthesis Disorders

Also known as: BASD, bile acid synthesis defects
Subdivisions: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, alpha-methylacyl-CoA racemase (AMACR) deficiency, amino acid n-acyltransferase deficiency, bile acid CoA ligase deficiency, delta4-3-oxosteroid 5-beta-reductase deficiency, oxysterol 7-alpha-hydroxylase deficiency, sterol 27-hydroxylase deficiency (cerebrotendinous xanthomatosis), trihydroxycholestanoic acid CoA oxidase deficiency

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

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

Birt-Hogg-Dubé Syndrome

Also known as: BHD syndrome, Hornstein-Knickenberg syndrome
Subdivisions: No subdivisions found

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


Also known as: Gilchrist's Disease, North American Blastomycosis

Bloom Syndrome

Also known as: Bloom’s syndrome, Bloom-Torre-Machacek syndrome, BSyn

Blue Diaper Syndrome

Also known as: Drummond's Syndrome, Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria

Bosma Arhinia Microphthalmia Syndrome

Also known as: Gifford-Bosma syndrome, Bosma syndrome, Ruprecht Majewski syndrome, arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, BAM syndrome


Subdivisions: adult intestinal colonization ( intestinal toxemia) botulism, foodborne botulism, infant botulism, wound botulism, iatrogenic botulism

Bowen Hutterite Syndrome

Also known as: Bowen-Conradi Hutterite Syndrome, Bowen-Conradi Syndrome, Hutterite Syndrome, Bowen-Conradi Type

Branchio Oculo Facial Syndrome

Also known as: BOFS, branchio-oculo-facial syndrome, also branchiooculofacial syndrome, hemangiomatous branchial clefts-lip pseudocleft syndrome

Brown Séquard Syndrome

Also known as: BSS, Hemiparaplegic Syndrome, Hemisection of the Spinal Cord, Partial Spinal Sensory Syndrome, Spastic Spinal Monoplegia Syndrome

Brown Syndrome

Also known as: Superior Oblique Tendon Sheath Syndrome, Tendon Sheath Adherence, Superior Oblique
Subdivisions: Acquired Brown Syndrome, Congenital Brown Syndrome, Primary Brown Syndrome, Secondary Brown Syndrome


Also known as: Bang Disease, Brucellemia, Brucelliasis, Cyprus Fever, Febris Melitensis, Febris Sudoralis, Febris Undulans, Fievre Caprine, Gibraltar Fever, Goat Fever, Maltese Fever, Mediterranean Fever, Nonfamilial, Melitensis Septicemia, Melitococcosis, Neapolitan Fever, Phthisis
Subdivisions: Acute Brucellosis, Chronic Brucellosis, Localized Brucellosis, Subacute Brucellosis, Undulant Fever

Budd Chiari Syndrome

Also known as: Budd's Syndrome, Chiari-Budd Syndrome, Chiari's Disease, Hepatic Veno-Occlusive Disease, Rokitansky's Disease

Buerger’s Disease

Also known as: Inflammatory Occlusive Peripheral Vascular Disease, Occlusive Peripheral Vascular Disease, TAO, Thromboangiitis Obliterans