Browse A-Z

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 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
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 - See Bardet-Biedl syndrome 11
Bardet-Biedl syndrome - See Bardet-Biedl syndrome 1
Bardet-Biedl syndrome - See Bardet-Biedl syndrome 2
Bardet-Biedl syndrome - See Bardet-Biedl syndrome 10
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
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 - See Congenital muscular dystrophy-infantile cataract-hypogonadism 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 1
BBS - See Bardet-Biedl syndrome 2
BBS - See Bardet-Biedl syndrome 12
BBS - See Bardet-Biedl syndrome 11
BBS - See Bardet-Biedl syndrome 10
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 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
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 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
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
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 mental retardation dysmorphism syndrome - See Birk-Barel syndrome
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 mental retardation syndromes - See Blepharophimosis intellectual disability syndromes
Blepharophimosis radioulnar synostosis - See Jorgenson Lenz syndrome
Blepharophimosis syndrome Ohdo type - See Blepharophimosis intellectual disability syndromes
Blepharophimosis types 1 and 2 - See Blepharophimosis-epicanthus inversus-ptosis syndrome
Blepharophimosis with ptosis, syndactyly, and short stature
Blepharophimosis, arachnodactyly, and congenital contractures - See Marden Walker like syndrome
Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly) - See Saethre-Chotzen syndrome
Blepharophimosis-epicanthus inversus-ptosis 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 Athabaskan brainstem dysgenesis
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
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
Brachycephaly, deafness, cataract and mental retardation - See Fine-Lubinsky syndrome
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 mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face - See Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
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
Bri amyloidosis - See Dementia familial British
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 and great toes, characteristic facies, and mental retardation - 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-Fordyce trichoepitheliomas - See Multiple familial trichoepithelioma
Brooke-Spiegler 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 Brooke-Spiegler 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 Athabaskan brainstem dysgenesis
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
Butterfly dystrophy of retinal pigment epithelium - See Patterned dystrophy of retinal pigment epithelium
Butterfly-shaped pigment dystrophy of the fovea - See Patterned dystrophy of retinal pigment epithelium
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