Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [B]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• B cell lymphoma, indolent - See Indolent B cell lymphoma
• B cell prolymphocytic leukemia
• B coli infection - See Balantidiasis
• B pseudomallei infection - See Melioidosis
• B variant GM2 gangliosidosis - See Tay-Sachs disease
• B4GALT1-CDG - See B4GALT1-CDG (CDG-IId)
• B4GALT1-CDG (CDG-IId)
• B6-responsive sideroblastic anemia - See Sideroblastic anemia pyridoxine-responsive autosomal recessive
• Babesia parasite infection - See Babesiosis
• Babesiosis
• Babinski-Froelich syndrome - See Hypothalamic obesity
• Baby rattle pelvic dysplasia
• BACNS - See Benign angiitis of the central nervous system
• Bacterial meningitis
• Bacterial toxic-shock syndrome - See Staphylococcal toxic shock syndrome
• Baetz-Greenwalt syndrome
• Bagatelle Cassidy syndrome
• Bahemuka Brown syndrome - See Spastic paraplegia facial cutaneous lesions
• Bain type of X-linked syndromic intellectual disability
• Bainbridge-Ropers syndrome
• Baird syndrome - See Absence of fingerprints congenital milia
• Baker Vinters syndrome
• Baker-Winegrad disease - See Fructose-1,6-bisphosphatase deficiency
• BAL - See Acute leukemia of ambiguous lineage
• Balantidiasis
• Balantidiosis - See Balantidiasis
• Balantidium coli infection - See Balantidiasis
• Balikova-Vermeesch syndrome - See Microtia eye coloboma and imperforation of the nasolacrimal duct
• Balkan endemic nephropathy
• Ballard syndrome - See Brachydactyly types B and E combined
• Baller-Gerold syndrome
• Ballinger Wallace syndrome - See Maternally inherited diabetes and deafness
• Baló concentric sclerosis - See Tumefactive multiple sclerosis
• Balo disease - See Tumefactive multiple sclerosis
• Balo's concentric sclerosis - See Tumefactive multiple sclerosis
• Balo's disease - See Tumefactive multiple sclerosis
• Bamforth syndrome
• Bamforth-Lazarus syndrome - See Bamforth syndrome
• Bancroftian filariasis - See Lymphatic filariasis
• Band-like calcification with simplified gyration and polymicrogyria - See Congenital intrauterine infection-like syndrome
• Bangstad syndrome
• Banki syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Zonana syndrome - See Bannayan-Riley-Ruvalcaba syndrome
• Banti's disease - See Banti's syndrome
• Banti's syndrome
• Bantu siderosis
• BAP1 tumor predisposition syndrome
• BAP1-related tumor predisposition syndrome - See BAP1 tumor predisposition syndrome
• BAP1-TPDS - See BAP1 tumor predisposition syndrome
• Baraitser Rodeck Garner syndrome
• Baraitser-Brett-Piesowicz syndrome - See Congenital intrauterine infection-like syndrome
• Baraitser-Burn syndrome - See Orofaciodigital syndrome 4
• Baraitser-Reardon syndrome - See Congenital intrauterine infection-like syndrome
• Baraitser-Winter syndrome
• Barakat syndrome
• Barber Say syndrome
• Bardet-Biedl syndrome
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 2
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 1
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 12
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 11
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 10
• Bardet-Biedl syndrome 1
• Bardet-Biedl syndrome 10
• Bardet-Biedl syndrome 11
• Bardet-Biedl syndrome 12
• Bardet-Biedl syndrome 2
• Bardet-Biedl syndrome 3
• Bardet-Biedl syndrome 4
• Bardet-Biedl syndrome 5
• Bardet-Biedl syndrome 6
• Bardet-Biedl syndrome 7
• Bardet-Biedl syndrome 8
• Bardet-Biedl syndrome 9
• Bare lymphocyte syndrome
• Bare lymphocyte syndrome 2
• Bare lymphocyte syndrome type 2 - See Bare lymphocyte syndrome 2
• Baritosis
• Barlow syndrome - See Mitral valve prolapse, familial, X-linked
• Barnes syndrome - See Thoracolaryngopelvic dysplasia
• Barnicoat Baraitser syndrome
• Barnicoat-Baraitser syndrome - See Barnicoat Baraitser syndrome
• Baroreflex failure
• Barraquer-Simons syndrome
• Barrett esophagus - not a rare disease
• Barrett syndrome - See Barrett esophagus - not a rare disease
• Barrett ulcer - See Barrett esophagus - not a rare disease
• Barrett's esophagus - See Barrett esophagus - not a rare disease
• Barry Perkins Young syndrome - See Young syndrome
• Barth syndrome
• Bartonellosis due to Bartonella henselae infection - See Cat scratch disease
• Bart-Pumphrey syndrome - See Knuckle pads, leuconychia and sensorineural deafness
• Bartsocas Papas syndrome - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Bartter syndrome
• Bartter syndrome antenatal type 1
• Bartter syndrome antenatal type 2
• Bartter syndrome classic - See Bartter syndrome type 3
• Bartter syndrome type 3
• Bartter syndrome type 4
• Bartter syndrome with sensorineural deafness - See Bartter syndrome type 4
• Bartter's syndrome - See Bartter syndrome
• Basal cell carcinoma with follicular differentiation - See Basal cell carcinoma, infundibulocystic
• Basal cell carcinoma, infundibulocystic
• Basal cell carcinoma, multiple
• Basal Cell Nevus Syndrome - See Nevoid basal cell carcinoma syndrome
• Basal cell papilloma - See Seborrheic keratosis - not a rare disease
• Basal ganglia disease adult-onset - See Neuroferritinopathy
• Basal ganglia disorder with mental retardation - See Early-onset parkinsonism-intellectual disability syndrome
• Basaloid follicular hamartoma
• Basan syndrome - See Absence of fingerprints congenital milia
• Basaran Yilmaz syndrome
• BASD1 - See Congenital bile acid synthesis defect, type 1
• Basedow disease - See Graves disease - not a rare disease
• Basedow's coma
• Basilar artery migraine - See Migraine with brainstem aura
• Basilar impression, primary - See Primary basilar impression
• Basilar migraine - See Migraine with brainstem aura
• Basilar-type migraine - See Migraine with brainstem aura
• Bassen Kornzweig syndrome - See Abetalipoproteinemia
• Bassen-Kornzweig disease - See Abetalipoproteinemia
• Bassoe syndrome
• Bathing trunk nevus - See Giant congenital nevus
• Battaglia-Neri syndrome
• Batten disease - See Neuronal ceroid lipofuscinosis
• Batten Turner congenital myopathy - See Myopathy congenital
• Baylisascaris infection
• Bazex syndrome - See Bazex-Dupre-Christol syndrome
• Bazex-Dupre-Christol syndrome
• Bazex-Dupré-Christol syndrome - See Bazex-Dupre-Christol syndrome
• BBB syndrome - See Opitz G/BBB syndrome
• BBGD - See Biotin-thiamine-responsive basal ganglia disease
• BBS - See Bardet-Biedl syndrome 12
• BBS - See Bardet-Biedl syndrome 11
• BBS - See Bardet-Biedl syndrome 10
• BBS - See Bardet-Biedl syndrome
• BBS - See Bardet-Biedl syndrome 2
• BBS - See Bardet-Biedl syndrome 1
• BBS1 - See Bardet-Biedl syndrome 1
• BBS10 - See Bardet-Biedl syndrome 10
• BBS11 - See Bardet-Biedl syndrome 11
• BBS12 - See Bardet-Biedl syndrome 12
• BBS2 - See Bardet-Biedl syndrome 2
• BCD - See Bietti crystalline corneoretinal dystrophy
• BCD syndrome - See Ectropion inferior cleft lip and or palate
• B-cell expansion with NFKB and T-cell anergy - See BENTA disease
• B-cell expansion with NF-kB and T-cell anergy disease - See BENTA disease
• B-cell lymphoma
• BCIE - See Epidermolytic ichthyosis
• BCKD deficiency - See Maple syrup urine disease
• BCM - See Blue cone monochromatism
• BCPM - See Hailey-Hailey disease
• BD - See Behçet disease
• Bd syndrome - See Intellectual disability - athetosis - microphthalmia
• Bd syndrome
• BDA1 - See Brachydactyly type A1
• BDA2 - See Brachydactyly type A2
• BDA3 - See Brachydactyly type A3
• BDA4 - See Brachydactyly type A4
• BDA6 - See Brachydactyly type A6
• BDC - See Brachydactyly type C
• BDC - See Collecting duct carcinoma
• BDCS - See Bazex-Dupre-Christol syndrome
• BDMF - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
• BDPLT11 - See Glycoprotein VI deficiency
• BDS - See Diamond-Blackfan anemia
• Beals syndrome - See Congenital contractural arachnodactyly
• Beals-Hecht syndrome - See Congenital contractural arachnodactyly
• Bean syndrome - See Blue rubber bleb nevus syndrome
• Beare stevenson syndrome - See Beare-Stevenson cutis gyrata syndrome
• Beare-Stevenson cutis gyrata syndrome
• BEB - See Benign essential blepharospasm
• Bechterew syndrome - See Ankylosing spondylitis - not a rare disease
• Becker dystrophinopathy - See Becker muscular dystrophy
• Becker melanosis - See Becker's nevus
• Becker muscular dystrophy
• Becker naevus - See Becker's nevus
• Becker nevus - See Becker's nevus
• Becker nevus syndrome
• Becker's muscular dystrophy - See Becker muscular dystrophy
• Becker's nevus
• Beckwith-Wiedemann syndrome
• Bednar tumor
• Bedouin spastic ataxia syndrome - See Mousa Al din Al Nassar syndrome
• BEEC - See Exstrophy-epispadias complex
• Beemer Ertbruggen syndrome
• Beemer Langer syndrome - See Short rib-polydactyly syndrome type 4
• Beemer lethal malformation syndrome - See Beemer Ertbruggen syndrome
• Begeer syndrome - See Cataract ataxia deafness
• Behavioral variant of frontotemporal dementia
• Behçet disease
• Behcet syndrome - See Behçet disease
• Behçet syndrome - See Behçet disease
• Behçet’s disease - See Behçet disease
• Behcet's disease - See Behçet disease
• Behçet's disease - See Behçet disease
• Behcet's syndrome - See Behçet disease
• Behçet's syndrome - See Behçet disease
• Behr syndrome
• Behrens Baumann Dust syndrome - See Oculo-cerebral dysplasia
• Behrens-Baumann-Vogel syndrome - See Oculo-cerebral dysplasia
• Bejel
• Belgian type mental retardation syndrome - See Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
• Bell palsy - See Bell's palsy
• Bellini carcinoma - See Collecting duct carcinoma
• Bellini Chiumello Rimoldi syndrome - See Metaphyseal acroscyphodysplasia
• Bellini duct carcinoma - See Collecting duct carcinoma
• Bellini syndrome - See Metaphyseal acroscyphodysplasia
• Bellini’s duct carcinoma - See Collecting duct carcinoma
• Bell's palsy
• Bell-shaped thorax owing to short ribs, short-limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulas, and improvement - See Thoraco limb dysplasia Rivera type
• BEN - See Balkan endemic nephropathy
• Ben Ari Shuper Mimouni syndrome
• Ben Ari-Shuper-Mimouni syndrome - See Corpus callosum agenesis double urinary collecting
• Benallegue Lacete syndrome
• Bencze syndrome - See Hemifacial hyperplasia strabismus
• Benign angiitis of the central nervous system
• Benign autosomal dominant myopathy
• Benign chronic pemphigus - See Hailey-Hailey disease
• Benign chronic T-cell infiltrative disorder - See Lymphocytic infiltrate of Jessner
• Benign cystic peritoneal mesothelioma - See Benign multicystic peritoneal mesothelioma
• Benign eccrine spiradenoma
• Benign epilepsy of childhood with centrotemporal spikes (BECCT) - See Benign rolandic epilepsy (BRE)
• Benign epilepsy with centro-temporal spikes (BECTS) - See Benign rolandic epilepsy (BRE)
• Benign essential blepharospasm
• Benign essential hematuria - See Thin basement membrane nephropathy - not a rare disease
• Benign essential tremor - See Essential tremor - not a rare disease
• Benign familial hematuria - See Thin basement membrane nephropathy - not a rare disease
• Benign familial infantile convulsions - See Benign familial neonatal-infantile seizures
• Benign familial infantile convulsions syndrome - See Convulsions, benign familial infantile, 1
• Benign familial infantile epilepsy
• Benign familial macrocephaly - See Macrocephaly, benign familial
• Benign familial megalencephaly - See Macrocephaly, benign familial
• Benign familial neonatal convulsions - See Benign familial neonatal epilepsy
• Benign familial neonatal convulsions - See Convulsions benign familial neonatal dominant form
• Benign familial neonatal epilepsy
• Benign familial neonatal seizures - See Benign familial neonatal epilepsy
• Benign familial neonatal seizures - See Convulsions benign familial neonatal dominant form
• Benign familial neonatal-infantile seizures
• Benign familial pemphigus - See Hailey-Hailey disease
• Benign focal amyotrophy - See Monomelic amyotrophy
• Benign giant lymphoma - See Castleman disease
• Benign hereditary chorea
• Benign hereditary nephritis - See Thin basement membrane nephropathy - not a rare disease
• Benign infantile familial convulsions - See Convulsions, benign familial infantile, 1
• Benign lymphocytic infiltration - See Lymphocytic infiltrate of Jessner
• Benign mesenchymal melanoma - See Tièche-Jadassohn nevus
• Benign metastasizing leiomyoma
• Benign migratory glossitis - See Geographic tongue - not a rare disease
• Benign mucosal pemphigoid - See Cicatricial pemphigoid
• Benign mucous membrane pemphigoid - See Cicatricial pemphigoid
• Benign multicystic peritoneal mesothelioma
• Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract - See Bassoe syndrome
• Benign occipital epilepsy - See Epilepsy, benign occipital
• Benign paroxysmal peritonitis - See Familial Mediterranean fever
• Benign paroxysmal positional vertigo
• Benign Pemphigus - See Bullous pemphigoid
• Benign pseudohypertrophic muscular dystrophy - See Becker muscular dystrophy
• Benign recurrent aseptic meningitis - See Mollaret meningitis
• Benign recurrent intrahepatic cholestasis
• Benign recurrent intrahepatic cholestasis 1
• Benign recurrent intrahepatic cholestasis 2
• Benign recurrent lymphocytic meningitis - See Mollaret meningitis
• Benign rolandic epilepsy (BRE)
• Benign rolandic epilepsy of childhood (BREC) - See Benign rolandic epilepsy (BRE)
• Benign schwannoma - See Schwannoma
• Benign symmetrical lipomatosis - See Multiple symmetric lipomatosis
• Benign thunderclap headache - See Thunderclap headache
• Bennion-Patterson syndrome - See Tylosis with esophageal cancer
• Bent bone dysplasia (BBD)-FGFR2 type - See Bent bone dysplasia syndrome
• Bent bone dysplasia syndrome
• Bent spine - See Camptocormism
• Bent Spine Syndrome - See Camptocormism
• BENTA disease
• Beradinelli-Seip syndrome - See Congenital generalized lipodystrophy
• Berardinelli Seip congenital lipodystrophy type 2 - See Congenital generalized lipodystrophy
• Berardinelli syndrome - See Congenital generalized lipodystrophy
• Berardinelli-Seip congenital lipodystrophy - See Congenital generalized lipodystrophy
• Berardinelli-Seip congenital lipodystrophy type 1 - See Congenital generalized lipodystrophy type 1
• Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy - See Congenital generalized lipodystrophy type 4
• Berdon syndrome - See Megacystis microcolon intestinal hypoperistalsis syndrome
• Berger disease - See IgA nephropathy
• Berger's disease - See IgA nephropathy
• Beriberi
• Berk-Tabatznik syndrome
• Berlin Breakage syndrome - See Nijmegen breakage syndrome
• Berman syndrome - See Mucolipidosis type 4
• Bernard-Horner Syndrome - See Horner's syndrome
• Bernard-Soulier syndrome - See Giant platelet syndrome
• Bernhardt-Roth syndrome - See Meralgia paresthetica
• Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
• Beryllium disease
• Beryllliosis - See Beryllium disease
• Best disease - See Best vitelliform macular dystrophy
• Best macular dystrophy - See Best vitelliform macular dystrophy
• Best vitelliform macular dystrophy
• Beta galactosidase deficiency type 1 - See GM1 gangliosidosis type 1
• Beta galactosidase 1 deficiency - See GM1 gangliosidosis
• Beta ketothiolase deficiency
• Beta thalassemia intermedia - See Beta-thalassemia
• Beta thalassemia major - See Beta-thalassemia
• Beta thalassemia minor - See Beta-thalassemia
• Beta-1,4-galactosyltransferase deficiency - See B4GALT1-CDG (CDG-IId)
• Beta-2-microglobulin amyloidosis - See Amyloidosis Beta2M
• Beta-galactosidase deficiency type 3 - See GM1 gangliosidosis type 3
• Beta-galactosidase-1 deficiency
• Beta-galactosidosis - See GM1 gangliosidosis
• Beta-glucuronidase deficiency - See Mucopolysaccharidosis type VII
• Beta-hexosaminidase-beta-subunit deficiency - See Sandhoff disease
• Beta-hydroxyisobutyryl-CoA deacylase deficiency - See HIBCH deficiency
• Betalipoprotein deficiency disease - See Abetalipoproteinemia
• Beta-mannosidase deficiency - See Mannosidosis, beta A, lysosomal
• Beta-mannosidosis - See Mannosidosis, beta A, lysosomal
• Beta-mercaptolactate cysteine disulfiduria - See Ampola syndrome
• BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION - See Beta-Propeller Protein-Associated Neurodegeneration
• Beta-Propeller Protein-Associated Neurodegeneration
• Beta-sarcoglycan limb-girdle muscular dystrophy - See Limb-girdle muscular dystrophy type 2E
• Beta-sarcoglycanopathy
• Beta-thalassemia
• Bethlem myopathy
• Beukes familial hip dysplasia
• BFHD - See Beukes familial hip dysplasia
• BFIC - See Convulsions, benign familial infantile, 1
• BFIC1 - See Convulsions, benign familial infantile, 1
• BFIS1 - See Convulsions, benign familial infantile, 1
• BFLS - See Borjeson-Forssman-Lehmann syndrome
• BFNC/Myokymia syndrome - See Myokymia with neonatal epilepsy
• BFNIS - See Benign familial neonatal-infantile seizures
• BFNS - See Benign familial neonatal epilepsy
• BFPP - See Bilateral frontoparietal polymicrogyria
• BGMR - See Early-onset parkinsonism-intellectual disability syndrome
• BGS - See Baller-Gerold syndrome
• BH4 deficiency - See Tetrahydrobiopterin deficiency
• BHD - See Birt-Hogg-Dube syndrome
• BHD syndrome - See Birt-Hogg-Dube syndrome
• BHDS - See Bobble-head doll syndrome
• Bicarbonate-wasting RTA - See Renal tubular acidosis, distal, type 3
• Bickerstaff migraine - See Migraine with brainstem aura
• Bidirectional tachycardia
• Bidirectional tachycardia induced by catecholamine - See Catecholaminergic polymorphic ventricular tachycardia
• Bidirectional ventricular tachycardia - See Bidirectional tachycardia
• Biedl-Bardet Syndrome - See Bardet-Biedl syndrome
• Biemond ataxia - See Posterior column ataxia
• Biemond syndrome
• Biemond syndrome 2
• Biemond syndrome type 1
• Bier spots
• Biermer anemia - See Pernicious anemia - not a rare disease
• Biermer's disease - See Pernicious anemia - not a rare disease
• Bietti crystalline corneoretinal dystrophy
• Bietti tapetoretinal degeneration with marginal corneal dystrophy - See Bietti crystalline corneoretinal dystrophy
• Bifid cranium - See Encephalocele
• Bifid nose
• Bifid nose with or without anorectal and renal anomalies
• Bifid tongue - See Cleft tongue
• Bifunctional enzyme deficiency - See D-bifunctional protein deficiency
• Bifurcation of distal humerus with oligoectro-syndactyly - See Gollop Coates syndrome
• Bilateral absence of the tibia - See Absence of Tibia
• Bilateral acoustic neurofibromatosis - See Neurofibromatosis type 2
• Bilateral anophthalmia, esophageal atresia, and right cryptorchidism - See Arroyo Garcia Cimadevilla syndrome
• Bilateral anorchia - See Anorchia
• Bilateral band-like calcification with polymicrogyria - See Congenital intrauterine infection-like syndrome
• Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy - See Spastic paraplegia 9
• Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance - See Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
• Bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch - See Cryptomicrotia brachydactyly syndrome
• Bilateral frontal polymicrogyria
• Bilateral frontoparietal polymicrogyria
• Bilateral generalised polymicrogyria - See Bilateral generalized polymicrogyria
• Bilateral generalized polymicrogyria
• Bilateral Kienbock's disease - See Kienbock's disease
• Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma - See Ghose Sachdev Kumar syndrome
• Bilateral occipital calcifications with epilepsy - See Epilepsy occipital calcifications
• Bilateral parasagittal parieto-occipital polymicrogyria
• Bilateral perisylvian polymicrogyria
• Bilateral periventricular nodular heterotopia - See X-linked periventricular heterotopia
• Bilateral radial aplasia with Wilms tumor - See Wilms tumor and radial bilateral aplasia
• Bilateral radial defects club foot deformity micrognathia and cleft palate - See Radial defect Robin sequence
• Bilateral renal agenesis dominant type
• Bilateral right-sidedness sequence - See Ivemark syndrome
• Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects - See Deafness enamel hypoplasia nail defects
• Bilateral striopallidodentate calcinosis - See Primary Familial Brain Calcification
• Bilateral striopallidodentate calcinosis childhood-onset - See Idiopathic basal ganglia calcification childhood-onset
• Bilateral temporal lobe disorder - See Kluver Bucy syndrome
• Bilateral trigger thumb (type) - See Trigger thumb
• Bilateral ulnar hypoplasia and mental retardation - See Ulna hypoplasia-intellectual disability syndrome
• Bilateral Wilms tumor - See Wilms' tumor
• Bilateral, annular limbal dermoids with corneal and conjunctival extension - See Ring dermoid of cornea
• Bile acid synthesis defect, congenital, 4
• Bile duct cancer
• Bile duct cysts