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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.

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  • B Cell Chronic Lymphocytic Leukemia - See Chronic lymphocytic leukemia
  • 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
  • B virus - See Herpes simiae (B virus)
  • 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 susceptibility due to TLR signaling pathway deficiency - See MYD88 deficiency
  • Bacterial toxic-shock syndrome - See Staphylococcal toxic shock syndrome
  • Baetz-Greenwalt syndrome
  • Bagatelle Cassidy syndrome
  • Bahemuka Brown syndrome - See Spastic paraplegia facial cutaneous lesions
  • Bailey-Bloch congenital myopathy - See STAC3 Disorder
  • 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 - 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 11
  • Bardet-Biedl syndrome - See Bardet-Biedl syndrome 10
  • Bardet-Biedl syndrome - See Bardet-Biedl syndrome 1
  • Bardet-Biedl syndrome - See Bardet-Biedl syndrome 2
  • Bardet-Biedl syndrome
  • Bardet-Biedl syndrome - See Bardet-Biedl syndrome 12
  • 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
  • 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 - See Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
  • Bassoe syndrome - See Muscular dystrophy, congenital, infantile with cataract and hypogonadism
  • 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 2
  • BBS - See Bardet-Biedl syndrome 12
  • BBS - See Bardet-Biedl syndrome 10
  • BBS - See Bardet-Biedl syndrome 11
  • BBS - See Bardet-Biedl syndrome 1
  • BBS - See Bardet-Biedl syndrome
  • 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 Blepharo-cheilo-odontic syndrome
  • 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
  • BCKDH deficiency - See Maple syrup urine disease
  • BCM - See Blue cone monochromatism
  • BCPM - See Hailey-Hailey disease
  • BD - See Behçet disease
  • Bd syndrome
  • Bd syndrome - See Intellectual disability - athetosis - microphthalmia
  • 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 Collecting duct carcinoma
  • BDC - See Brachydactyly type C
  • 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
  • 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
  • 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 Convulsions benign familial neonatal dominant form
  • Benign familial neonatal convulsions - See Benign familial neonatal epilepsy
  • Benign familial neonatal epilepsy
  • Benign familial neonatal seizures - See Convulsions benign familial neonatal dominant form
  • Benign familial neonatal seizures - See Benign familial neonatal epilepsy
  • 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 mesonephroma
  • Benign metastasizing leiomyoma
  • Benign migratory glossitis - See Geographic tongue - not a rare disease
  • Benign mucosal pemphigoid - See Mucous membrane pemphigoid
  • Benign mucous membrane pemphigoid - See Mucous membrane pemphigoid
  • Benign multicystic peritoneal mesothelioma
  • Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract - See Congenital muscular dystrophy-infantile cataract-hypogonadism 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
  • Berardinelli-Seip syndrome - See Congenital generalized lipodystrophy
  • 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 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
  • Bilginturan syndrome - See Brachydactyly with hypertension
  • Bilharzia - See Schistosomiasis
  • Biliary atresia
  • Biliary atresia intrahepatic non syndromic form
  • Biliary atresia intrahepatic syndromic form
  • Biliary hypoplasia
  • Biliary tract cancer
  • Bilirubin encephalopathy - See Kernicterus
  • Billet Bear syndrome
  • Bimanual synergia - See Congenital mirror movement disorder
  • Bimanual synkinesis - See Congenital mirror movement disorder
  • Binder syndrome - See Maxillonasal dysplasia, Binder type
  • Bindewald Ulmer Muller syndrome - See Fallot complex with severe mental and growth retardation
  • Binswanger's disease
  • Biodefective growth hormone - See Kowarski syndrome
  • Biotin deficiency - See Biotinidase deficiency
  • Biotinidase deficiency
  • Biotin-responsive basal ganglia disease - See Biotin-thiamine-responsive basal ganglia disease
  • Biotin-thiamine-responsive basal ganglia disease
  • Biphenotypic acute leukemia - See Acute leukemia of ambiguous lineage
  • Bipolar affective disorder - See Bipolar disorder - not a rare disease
  • Bipolar disorder - not a rare disease
  • Bipolar illness - See Bipolar disorder - not a rare disease
  • Bird-headed dwarfism - See Seckel syndrome
  • Bird-headed dwarfism microcephaly micrognathia - See Seckel like syndrome Majoor-Krakauer type
  • Bird-headed dwarfism with features of premature senility - See Microcephalic primordial dwarfism, Montreal type
  • Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency - See Bangstad syndrome
  • Birdshot chorioretinitis - See Birdshot chorioretinopathy
  • Birdshot chorioretinopathy
  • Birdshot retinochoroiditis - See Birdshot chorioretinopathy
  • Birdshot retinochoroidopathy - See Birdshot chorioretinopathy
  • Birk-Barel syndrome
  • Birt Hogg Dube syndrome - See Birt-Hogg-Dube syndrome
  • Birt-Hogg-Dube syndrome
  • Bitemporal aplasia cutis congenita - See Focal facial dermal dysplasia
  • Bitemporal forceps marks syndrome - See Facial ectodermal dysplasia
  • Bixler Christian Gorlin syndrome
  • Bizarre parosteal osteochondromatous proliferation
  • Bjornstad syndrome
  • BJS - See Bjornstad syndrome
  • B-K mole syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
  • BK virus nephropathy - See BK-virus nephropathy
  • BKN - See BK-virus nephropathy
  • BK-virus nephropathy
  • BKVN - See Polyomavirus allograft nephropathy
  • BL - See Burkitt lymphoma
  • Black Baine - See Anthrax
  • Black hairy tongue - not a rare disease
  • Black lung disease - See Coal worker's pneumoconiosis
  • Blackfan Diamond syndrome - See Diamond-Blackfan anemia
  • Blackfan-Diamond anemia - See Diamond-Blackfan anemia
  • Bladder cancer - not a rare disease
  • Bladder exstrophy - See Exstrophy of the bladder
  • Bladder exstrophy-epispadias-cloacal extrophy complex - See Exstrophy-epispadias complex
  • Bladder pain syndrome - See Interstitial cystitis - not a rare disease
  • Blaschkoid lichen planus - See Linear lichen planus
  • Blaschkoid LP - See Linear lichen planus
  • Blastic NK-cell lymphoma - See Blastic plasmacytoid dendritic cell
  • Blastic plasmacytoid dendritic cell
  • Blastic plasmacytoid dendritic cell neoplasm - See Blastic plasmacytoid dendritic cell
  • Blastomycosis
  • Blau syndrome
  • BLC-PMG - See Congenital intrauterine infection-like syndrome
  • BLCPMG - See Congenital intrauterine infection-like syndrome
  • Bleeding diathesis due to a collagen receptor defect - See Glycoprotein VI deficiency
  • Bleeding diathesis due to glycoprotein VI deficiency - See Glycoprotein VI deficiency
  • Bleeding disorder due to ADP platelet receptor P2Y12 defect - See Bleeding disorder due to P2RY12 defect
  • Bleeding disorder due to P2RX1 defect, somatic - See Bleeding disorder due to P2RY12 defect
  • Bleeding disorder due to P2RY12 defect
  • Bleeding disorder due to P2Y12 defect - See Bleeding disorder due to P2RY12 defect
  • Bleeding disorder due to primary defects in platelet release mechanism - See Primary release disorder of platelets
  • Bleeding disorder, platelet-type 8 - See Bleeding disorder due to P2RY12 defect
  • Blepharo naso facial syndrome Van maldergem type
  • Blepharochalasis - double lip - See Ascher Syndrome
  • Blepharochalasis and double lip - See Ascher Syndrome
  • Blepharochalasis-double lip syndrome - See Ascher Syndrome
  • Blepharocheilodontic syndrome - See Blepharo-cheilo-odontic syndrome
  • Blepharo-cheilo-dontic syndrome - See Blepharo-cheilo-odontic syndrome
  • Blepharocheilodontic syndrome 1 - See Blepharo-cheilo-odontic syndrome
  • Blepharo-cheilo-odontic syndrome
  • Blepharofacioskeletal syndrome - See Hypotelorism cleft palate hypospadias
  • Blepharonasofacial malformation syndrome
  • Blepharophimosis
  • Blepharophimosis - ptosis - esotropia - syndactyly - short stature - See Blepharophimosis with ptosis, syndactyly, and short stature
  • Blepharophimosis intellectual disability syndromes
  • Blepharophimosis radioulnar synostosis - See Jorgenson Lenz syndrome
  • Blepharophimosis syndrome Ohdo type - See Blepharophimosis intellectual disability syndromes
  • Blepharophimosis with ptosis, syndactyly, and short stature
  • Blepharophimosis, arachnodactyly, and congenital contractures - See Van den Ende Gupta syndrome
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome
  • Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly) - See Saethre-Chotzen syndrome
  • Blepharophimosis-intellectual disability syndrome - See Blepharophimosis intellectual disability syndromes
  • Blepharoptosis myopia ectopia lentis
  • Blepharospasm - See Benign essential blepharospasm
  • Blepharospasm - oromandibular dystonia - See Meige syndrome
  • Blepharospasm-oromandibular dystonia - See Meige syndrome
  • Blepharospasm-oromandibular dystonia syndrome - See Meige syndrome
  • BLM - See Bloom syndrome
  • Bloch-Sulzberger syndrome - See Incontinentia pigmenti
  • Blomstrand lethal osteochondrodysplasia - See Chondrodysplasia Blomstrand type
  • Blomstrand's lethal chondrodysplasia - See Chondrodysplasia Blomstrand type
  • Blood fluke - See Schistosomiasis
  • Bloom syndrome
  • Bloom-Torre-Machacek syndrome - See Bloom syndrome
  • Blount disease
  • Blount-Barber syndrome - See Blount disease
  • Blount's disease - See Blount disease
  • BLS - See Bloom syndrome
  • BLS 2 - See Bare lymphocyte syndrome 2
  • BLS type 1 - See Bare lymphocyte syndrome
  • BLT syndrome - See Brain-lung-thyroid syndrome
  • Blue baby syndrome - See Methemoglobinemia, beta-globin type
  • Blue cone monochromatism
  • Blue diaper syndrome
  • Blue neuronevus - See Tièche-Jadassohn nevus
  • Blue nevus - See Tièche-Jadassohn nevus
  • Blue rubber bleb nevus - See Blue rubber bleb nevus syndrome
  • Blue rubber bleb nevus syndrome
  • BMFS - See Inherited bone marrow failure syndromes - not a rare disease
  • BMPM - See Benign multicystic peritoneal mesothelioma
  • BMRS - See Blepharophimosis intellectual disability syndromes
  • BMS - See Burning mouth syndrome - not a rare disease
  • BNAR syndrome - See Bifid nose with or without anorectal and renal anomalies
  • BO syndrome 1 - See Branchiootic syndrome
  • Bobble head doll syndrome - See Bobble-head doll syndrome
  • Bobble-head doll syndrome
  • BOCD - See Chondrodysplasia Blomstrand type
  • Bockenheimer syndrome - See Genuine diffuse phlebectasia
  • BOD syndrome
  • Boder syndrome - See Odontoma dysphagia syndrome
  • Body stalk anomaly - See Limb-body wall complex
  • BOE - See Epilepsy, benign occipital
  • Boerhaave syndrome
  • Boerhaave's syndrome - See Boerhaave syndrome
  • Boerhave syndrome - See Boerhaave syndrome
  • BOFS syndrome - See Branchiooculofacial syndrome
  • Bohring syndrome - See Bohring-Opitz syndrome
  • Bohring-Opitz syndrome
  • Bone dysplasia Azouz type
  • Bone dysplasia corpus callosum agenesis
  • Bone dysplasia lethal Holmgren type
  • Bone dysplasia Moore type
  • Bone dysplasia with malignant fibrous histiocytoma - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • Bone dysplasia with medullary fibrosarcoma - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features - See Cole Carpenter syndrome
  • Bone marrow necrosis - not a rare disease
  • Bonneau-Beaumont syndrome - See Hyperferritinemia cataract syndrome
  • Bonnemann Meinecke Reich syndrome - See Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
  • Bonnemann Meinecke syndrome - See Porencephaly cerebellar hypoplasia internal malformations
  • Bonnet-Decaume-Blanc syndrome - See Wyburn-Mason syndrome
  • Bonnevie-Ulrich syndrome - See Turner syndrome
  • Book syndrome
  • Boomerang dysplasia
  • Boomerang-like skeletal dysplasia - See Boomerang dysplasia
  • BOOP - See Bronchiolitis obliterans organizing pneumonia
  • Booth-Haworth-Dilling syndrome - See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • BOR syndrome - See Branchiootorenal syndrome
  • Bordetella pertussis infection - See Whooping cough
  • BOR-Duane hydrocephalus contiguous gene syndrome
  • BORJ - See Borjeson-Forssman-Lehmann syndrome
  • Borjeson Syndrome - See Borjeson-Forssman-Lehmann syndrome
  • Borjeson-Forssman-Lehmann syndrome
  • Bork Stender Schmidt syndrome
  • Bork syndrome - See Bork Stender Schmidt syndrome
  • Borreliosis - See Lyme disease - not a rare disease
  • Borrone dermatocardioskeletal syndrome - See Borrone Di Rocco Crovato syndrome
  • Borrone Di Rocco Crovato syndrome
  • BOS - See Buschke-Ollendorff syndrome
  • BOS syndrome - See Bohring-Opitz syndrome
  • BOS1 - See Branchiootic syndrome
  • Bosley Salih Alorainy syndrome - See Human HOXA1 Syndromes
  • Bosma arhinia microphthalmia syndrome - See Arhinia choanal atresia microphthalmia
  • Bosma Henkin Christiansen syndrome - See Arhinia choanal atresia microphthalmia
  • Bothriocephalosis
  • Botryoid rhabdomyosarcoma (type of ERMS) - See Rhabdomyosarcoma embryonal
  • Botulism
  • Boucher-Neuhäuser syndrome - See Ataxia - hypogonadism - choroidal dystrophy
  • Boudhina Yedes Khiari syndrome
  • Bourneville syndrome - See Tuberous sclerosis complex
  • Bow hunter's stroke
  • Bow hunter's syndrome - See Bow hunter's stroke
  • Bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay - See Chitty Hall Webb syndrome
  • Bowen Hutterite syndrome (formerly) - See Bowen-Conradi syndrome
  • Bowen-Conradi Hutterite syndrome - See Bowen-Conradi syndrome
  • Bowen-Conradi syndrome
  • Bowenoid papulosis
  • Bowen's disease
  • Bowing of legs, anterior with dwarfism
  • Bowing of long bones congenital
  • Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies - See Fuhrmann syndrome
  • Bowing, congenital, with short bones - See Kyphomelic dysplasia
  • Boylan Dew Greco syndrome
  • BP - See Bowenoid papulosis
  • BPAN - See Beta-Propeller Protein-Associated Neurodegeneration
  • BPD - See Bronchopulmonary dysplasia
  • BPDCN - See Blastic plasmacytoid dendritic cell
  • BPNH - See X-linked periventricular heterotopia
  • BPOP - See Bizarre parosteal osteochondromatous proliferation
  • BPPV - See Benign paroxysmal positional vertigo
  • BPS - See Popliteal pterygium syndrome, Bartsocas-Papas type
  • Brachial amelia, cleft lip, and forebrain defects - See Brachial amelia, cleft lip, and holoprosencephaly
  • Brachial amelia, cleft lip, and holoprosencephaly
  • Brachial plexus neuropathy, hereditary - See Hereditary neuralgic amyotrophy
  • Brachioskeletogenital syndrome
  • Brachmann de Lange syndrome - See Cornelia de Lange syndrome
  • Brachycephalofrontonasal dysplasia
  • Brachydactylous dwarfism Mseleni type
  • Brachydactylous dwarfs of Mseleni - See Brachydactylous dwarfism Mseleni type
  • Brachydactyly - not a rare disease
  • Brachydactyly - nystagmus - cerebellar ataxia - See Biemond syndrome
  • Brachydactyly absence of distal phalanges
  • Brachydactyly and intraventricular conduction defect - See Heart-hand syndrome, Spanish type
  • Brachydactyly anonychia
  • Brachydactyly Ballard type - See Brachydactyly types B and E combined
  • Brachydactyly combined B and E types - See Brachydactyly types B and E combined
  • Brachydactyly elbow wrist dysplasia
  • Brachydactyly Farabee type - See Brachydactyly type A1
  • Brachydactyly Haws type - See Brachydactyly type C
  • Brachydactyly long thumb type
  • Brachydactyly Mononen type
  • Brachydactyly of the hands and feet with duplication of the first toes - See Sugarman brachydactyly
  • Brachydactyly preaxial with hallux varus and thumb abduction
  • Brachydactyly small stature face anomalies
  • Brachydactyly Smorgasbord type - See Brachydactyly type A7
  • Brachydactyly Temtamy type - See Brachydactyly type A4
  • Brachydactyly tibial hypoplasia
  • Brachydactyly type A1
  • Brachydactyly type A2
  • Brachydactyly type A3
  • Brachydactyly type A4
  • Brachydactyly type A5
  • Brachydactyly type A5 nail dysplasia - See Brachydactyly type A5
  • Brachydactyly type A6
  • Brachydactyly type A7
  • Brachydactyly type B
  • Brachydactyly type C
  • Brachydactyly type E
  • Brachydactyly type E with short stature and hypertension - See Brachydactyly with hypertension
  • Brachydactyly types B and E combined
  • Brachydactyly with absence of middle phalanges and hypoplastic nails - See Brachydactyly type A5
  • Brachydactyly with hypertension
  • brachydactyly with joint dysplasia - See Brachydactyly elbow wrist dysplasia
  • Brachydactyly with major proximal phalangeal shortening - See Sugarman brachydactyly
  • Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys - See Acro-pectoro-renal field defect
  • Brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle - See Cleidorhizomelic syndrome
  • Brachydactyly, nystagmus and cerebellar ataxia - See Biemond syndrome
  • Brachydactyly-clinodactyly - See Brachydactyly type A3
  • Brachydactyly-distal symphalangism syndrome - See Sillence syndrome
  • Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia - See Fibular aplasia ectrodactyly
  • Brachydactyly-Intellectual disability syndrome - See 2q37 deletion syndrome
  • Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
  • Brachydactyly-nystagmus-cerebellar ataxia syndrome - See Biemond syndrome
  • Brachydactyly-scoliosis-carpal fusion syndrome - See Acrodysplasia scoliosis
  • Brachymelic primordial dwarfism - See Microcephalic osteodysplastic primordial dwarfism type 1
  • Brachymesomelia renal syndrome
  • Brachymesomelia-renal syndrome - See Langer Nishino Yamaguchi syndrome
  • Brachymesophalangy 2 - See Brachydactyly type A2
  • Brachymesophalangy 5 - See Brachydactyly type A3
  • Brachymesophalangy II and V - See Brachydactyly type A4
  • Brachymesophalangy type 2
  • Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities - See Brachydactyly type A6
  • Brachymetapody anodontia hypotrichosis albinoidism
  • Brachymorphism onychodysplasia dysphalangism syndrome - See BOD syndrome
  • Brachymorphism-onychodysplasia-dysphalangism syndrome - See BOD syndrome
  • Brachyolmia
  • Brachyolmia autosomal dominant - See Brachyolmia type 3
  • Brachyolmia Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
  • Brachyolmia type 2 - See Spondyloepiphyseal dysplasia Maroteaux type
  • Brachyolmia type 3
  • Brachyphalangy, polydactyly and absent tibiae - See Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
  • Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
  • Brachyrachia - See Brachyolmia type 3
  • Bradbury Eggleston syndrome - See Pure autonomic failure
  • Bradbury-Eggleston syndrome - See Pure autonomic failure
  • Braddock Carey syndrome - See Thrombocytopenia Robin sequence
  • Braddock Jones Superneau syndrome
  • Braddock-Jones-Superneau syndrome - See Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
  • Bradyopsia - See Bradyopsia
  • Bradyopsia
  • Brain dopamine-serotonin vesicular transport disease
  • Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - See ZTTK syndrome
  • Brain stem cancer
  • Brain tumor, adult
  • Brain tumor, childhood
  • BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL - See Rhabdoid tumor
  • Brain tumor-polyposis syndrome - See Turcot syndrome
  • Brain-bone-fat disease - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • Brain-lung-thyroid syndrome
  • Brainstem migraine - See Migraine with brainstem aura
  • Branched chain ketoaciduria - See Maple syrup urine disease
  • Branched-chain 2-ketoacid dehydrogenase deficiency - See Maple syrup urine disease
  • Branched-chain alpha-keto acid dehydrogenase deficiency - See Maple syrup urine disease
  • Branched-chain ketoaciduria - See Maple syrup urine disease
  • Brancher deficiency - See Glycogen storage disease type 4
  • Branchial arch defects
  • Branchial arch syndrome X-linked
  • Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging - See Branchiooculofacial syndrome
  • Branchial dysplasia clubfoot inguinal hernia and biliary atresia - See Lambert syndrome
  • Branchio oto renal syndrome - See Branchiootorenal syndrome
  • Branchiooculofacial syndrome
  • Branchiootic dysplasia - See Branchiootic syndrome
  • Branchiootic syndrome
  • Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome - See BOR-Duane hydrocephalus contiguous gene syndrome
  • Branchiootorenal dysplasia - See Branchiootorenal syndrome
  • Branchiootorenal syndrome
  • Branchioskeletogenital syndrome - See Brachioskeletogenital syndrome
  • Branchio-skeleto-genital syndrome - See Brachioskeletogenital syndrome
  • Brandt syndrome - See Acrodermatitis enteropathica
  • Brandywine type dentinogenesis imperfecta - See Dentinogenesis imperfecta type 3
  • Brauer syndrome - See Focal facial dermal dysplasia
  • Brauer-Buschke-Fischer syndrome - See Punctate palmoplantar keratoderma type I
  • Brazilian achondrogenesis - See Chondrodysplasia, Grebe type
  • Brazilian pemphigus - See Pemphigus and fogo selvagem
  • Brazilian pemphigus foliaceus - See Pemphigus and fogo selvagem
  • BRBNS - See Blue rubber bleb nevus syndrome
  • BRCA1 hereditary breast and ovarian cancer syndrome
  • BRCA2 hereditary breast and ovarian cancer syndrome
  • Breast angiosarcoma - See Angiosarcoma of the breast
  • Breast cancer in men - See Breast cancer, male
  • Breast cancer, familial - See Familial breast cancer - not a rare disease
  • Breast cancer, inflammatory - See Inflammatory breast cancer
  • Breast cancer, male
  • Brenner tumor of ovary
  • Brenner tumor of the vagina
  • BRIC - See Benign recurrent intrahepatic cholestasis
  • BRIC1 - See Benign recurrent intrahepatic cholestasis 1
  • BRIC2 - See Benign recurrent intrahepatic cholestasis 2
  • Bright's disease - See Glomerulonephritis
  • Brill-Zinsser disease - See Typhus
  • Brittle bone disease - See Osteogenesis imperfecta
  • Brittle bone syndrome lethal type
  • Brittle cornea syndrome
  • Brittle diabetes
  • Brittle diabetes mellitus - See Brittle diabetes
  • Brittle hair and mental deficit - See Trichothiodystrophy
  • Brittle type 1 diabetes - See Brittle diabetes
  • BRKS1 - See Bruck syndrome 1
  • BRKS2 - See Bruck syndrome 2
  • Broad beta disease - See Hyperlipidemia type 3
  • Broad gyri of cerebrum - See Pachygyria
  • Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses - See Rubinstein Taybi like syndrome
  • Broad thumb-hallux syndrome - See Rubinstein-Taybi syndrome
  • Broad thumbs-halluces syndrome - See Rubinstein-Taybi syndrome
  • Broad-betalipoproteinemia - See Hyperlipidemia type 3
  • Brocq pseudopelade - See Pseudopelade of Brocq
  • Brocq-Duhring disease - See Dermatitis herpetiformis
  • Brodie Chole Griffin syndrome - See Macrothrombocytopenia progressive deafness
  • Brody disease - See Brody myopathy
  • Brody myopathy
  • Broken heart syndrome
  • Broken-heart syndrome - See Broken heart syndrome
  • Bronchial adenomas/carcinoids childhood
  • Bronchial carcinoids - See Bronchial adenomas/carcinoids childhood
  • Bronchiectasis oligospermia
  • Bronchiolitis obliterans
  • Bronchiolitis obliterans organizing pneumonia
  • Bronchogenic cyst
  • Bronchopulmonary dysplasia
  • Brooke-Spiegler syndrome - See CYLD cutaneous syndrome
  • Brooks Wisniewski Brown syndrome
  • BROVCA1 - See BRCA1 hereditary breast and ovarian cancer syndrome
  • BROVCA2 - See BRCA2 hereditary breast and ovarian cancer syndrome
  • Brown syndrome
  • Brown-Sequard syndrome
  • Brown-Vialetto-van Laere syndrome - See Riboflavin transporter deficiency
  • Brown-Vialetto-Van Laere syndrome 2
  • BRRS - See Bannayan-Riley-Ruvalcaba syndrome
  • BRSS - See CYLD cutaneous syndrome
  • Bruce Winship syndrome - See Radial defect Robin sequence
  • Brucellosis
  • Bruck syndrome 1
  • Bruck syndrome 2
  • Bruck syndrome-1 - See Kuskokwim disease
  • Brueghel syndrome - See Meige syndrome
  • Brugada syndrome
  • Brugada syndrome 3
  • Brugada syndrome 4
  • Brunner syndrome - See Monoamine oxidase A deficiency
  • Brunner-Winter syndrome - See Feingold syndrome
  • Brunsting Perry syndrome - See Brunsting-Perry syndrome
  • Brunsting-Perry syndrome
  • Brunzell syndrome - See Congenital generalized lipodystrophy
  • Bruton type agammaglobulinemia - See X-linked agammaglobulinemia
  • Bruton's agammaglobulinemia - See X-linked agammaglobulinemia
  • Bruyn Scheltens syndrome
  • BRWS - See Baraitser-Winter syndrome
  • BS - See Bloom syndrome
  • BS2 - See Biemond syndrome 2
  • BSAS - See Human HOXA1 Syndromes
  • BSCL - See Congenital generalized lipodystrophy
  • BSCL1 - See Congenital generalized lipodystrophy type 1
  • BSCL2-Related Brunzell syndrome - See Congenital generalized lipodystrophy
  • BSCR - See Birdshot chorioretinopathy
  • BSG syndrome - See Brachioskeletogenital syndrome
  • BSND - See Bartter syndrome type 4
  • BSPDC - See Primary Familial Brain Calcification
  • BSS - See Giant platelet syndrome
  • BTD deficiency - See Biotinidase deficiency
  • BTHS - See Barth syndrome
  • BTK-deficiency - See X-linked agammaglobulinemia
  • Bubonic plague
  • BUD - See Buruli ulcer
  • Budd-Chiari syndrome
  • Buerger disease
  • Buerger's disease - See Buerger disease
  • Bulbospinal muscular atrophy - See Kennedy disease
  • Bull teeth - See Taurodontism
  • Bulldog syndrome - See Simpson-Golabi-Behmel syndrome
  • Bull-Nixon syndrome - See Primary basilar impression
  • Bullous acrokeratotic poikiloderma of kindler and weary - See Kindler syndrome
  • Bullous cellulitis with eosinophilia - See Wells syndrome
  • Bullous congenital ichthyosiform erythroderma - See Epidermolytic ichthyosis
  • Bullous dystrophy hereditary macular type
  • Bullous erythroderma ichthyosiformis congenita of Brocq - See Epidermolytic ichthyosis
  • Bullous ichthyosiform erythroderma - See Epidermolytic ichthyosis
  • Bullous ichthyosiform erythroderma congenita - See Epidermolytic ichthyosis
  • Bullous papular urticaria - type - See Papular urticaria
  • Bullous pemphigoid
  • Bullous type of ichthyosis - See Ichthyosis bullosa of Siemens
  • Burger-Grutz syndrome - See Familial lipoprotein lipase deficiency
  • Burkholderia mallei - See Glanders
  • Burkholderia mallei infection - See Glanders
  • Burkholderia pseudomallei infection - See Melioidosis
  • Burkitt lymphoma
  • Burkitt's lymphoma - See Burkitt lymphoma
  • Burn Goodship syndrome
  • Burning mouth disorder - See Burning mouth syndrome - not a rare disease
  • Burning mouth syndrome - not a rare disease
  • Burn-McKeown syndrome - See Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
  • Burton skeletal dysplasia - See Schwartz Jampel syndrome
  • Burton syndrome - See Schwartz Jampel syndrome
  • Burton syndrome - See Kniest-like dysplasia with pursed lips and ectopia lentis
  • Buruli ulcer
  • Buruli ulcer disease - See Buruli ulcer
  • Buschke-Lowenstein tumor
  • Buschke-Ollendorff syndrome
  • Buschke's scleredema - See Scleredema
  • Bustos Simosa Pinto Cisternas syndrome
  • Buttiens Fryns syndrome - See Limb deficiencies distal with micrognathia
  • Butyrylcholinesterase deficiency - See Pseudocholinesterase deficiency
  • bvFTD - See Behavioral variant of frontotemporal dementia
  • BVMD - See Best vitelliform macular dystrophy
  • BVVLS - See Riboflavin transporter deficiency
  • BWCNS - See Bowen-Conradi syndrome
  • BXL4-Related Early-Onset Mitochondrial Encephalopathy - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
  • Byler disease - See Progressive familial intrahepatic cholestasis 1
  • Byler's disease - See Progressive familial intrahepatic cholestasis 1
  • Byssinosis
  • BZS - See Bannayan-Riley-Ruvalcaba syndrome
  • BZX - See Bazex-Dupre-Christol syndrome
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