Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program B/1 ENGLISH

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





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Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• 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
• BAER - See Brainstem auditory evoked responses - not a rare disease
• 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 Brett Piesowicz 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 - See Bardet-Biedl syndrome 12
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 10
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 11
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 2
• Bardet-Biedl syndrome
• Bardet-Biedl syndrome - See Bardet-Biedl syndrome 1
• 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 anodontia abnormal bone mineralization
• Basal Cell Nevus Syndrome - See Nevoid basal cell carcinoma syndrome
• Basal cell nevus, anodontia, abnormal bone mineralization - See Aloi Tomasini Isaia 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
• 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 10
• BBS - See Bardet-Biedl syndrome
• BBS - See Bardet-Biedl syndrome 11
• BBS - See Bardet-Biedl syndrome 2
• BBS - See Bardet-Biedl syndrome 12
• 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
• 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
• Benedict Augustin Morel's ear - See Morel's ear
• 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 Convulsions benign familial neonatal dominant form
• Benign familial neonatal convulsions - See Benign familial neonatal epilepsy
• 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 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 membrance 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 type 2
• Berardinelli syndrome - See Congenital generalized lipodystrophy type 2
• 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