List of rare diseases-B

NIH genetic and rare disease info

• NIH info on List of rare diseases-B

List of rare diseases-B is a rare disease.

• B Cell Chronic Lymphocytic Leukemia

• B cell lymphoma, indolent

• B cell prolymphocytic leukemia

• B coli infection

• B pseudomallei infection

• B variant GM2 gangliosidosis

• B virus

• B4GALT1-CDG

• B4GALT1-CDG (CDG-IId)

• B6-responsive sideroblastic anemia

• Babesia parasite infection

• Babesiosis

• Babinski-Froelich syndrome

• Baby rattle pelvic dysplasia

• BACNS

• Bacterial meningitis

• Bacterial susceptibility due to TLR signaling pathway deficiency

• Bacterial toxic-shock syndrome

• Baetz-Greenwalt syndrome

• Bagatelle Cassidy syndrome

• Bahemuka Brown syndrome

• Bailey-Bloch congenital myopathy

• Bain type of X-linked syndromic intellectual disability

• Bainbridge-Ropers syndrome

• Baird syndrome

• Baker Vinters syndrome

• Baker-Winegrad disease

• BAL

• Balantidiasis

• Balantidiosis

• Balantidium coli infection

• Balikova-Vermeesch syndrome

• Balkan endemic nephropathy

• Ballard syndrome

• Baller-Gerold syndrome

• Ballinger Wallace syndrome

• Baló concentric sclerosis

• Balo disease

• Balo's concentric sclerosis

• Balo's disease

• Bamforth syndrome

• Bamforth-Lazarus syndrome

• Bancroftian filariasis

• Band-like calcification with simplified gyration and polymicrogyria

• Bangstad syndrome

• Banki syndrome

• Bannayan-Riley-Ruvalcaba syndrome

• Bannayan-Zonana syndrome

• Banti's disease

• Banti's syndrome

• Bantu siderosis

• BAP1 tumor predisposition syndrome

• BAP1-related tumor predisposition syndrome

• BAP1-TPDS

• Baraitser-Brett-Piesowicz syndrome

• Baraitser-Burn syndrome

• Baraitser-Reardon syndrome

• Baraitser-Winter syndrome

• Barakat syndrome

• Barber Say syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome

• 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

• Baritosis

• Barlow syndrome

• Barnes syndrome

• Barnicoat Baraitser syndrome

• Barnicoat-Baraitser syndrome

• Baroreflex failure

• Barraquer-Simons syndrome

• Barrett esophagus - not a rare disease

• Barrett syndrome

• Barth syndrome

• Bartonellosis due to Bartonella henselae infection

• Bart-Pumphrey syndrome

• Bartsocas Papas syndrome

• Bartter syndrome

• Bartter syndrome antenatal type 1

• Bartter syndrome antenatal type 2

• Bartter syndrome classic

• Bartter syndrome type 3

• Bartter syndrome type 4

• Bartter syndrome with sensorineural deafness

• Bartter's syndrome

• Basal cell carcinoma with follicular differentiation

• Basal cell carcinoma, infundibulocystic

• Basal cell carcinoma, multiple

• Basal Cell Nevus Syndrome

• Basal cell papilloma

• Basal ganglia disorder with mental retardation

• Basaloid follicular hamartoma

• Basan syndrome

• Basaran Yilmaz syndrome

• BASD1

• Basedow disease

• Basilar artery migraine

• Basilar impression, primary

• Basilar migraine

• Basilar-type migraine

• Bassen Kornzweig syndrome

• Bassen-Kornzweig disease

• Bassoe syndrome

• Bassoe syndrome

• Bathing trunk nevus

• Battaglia-Neri syndrome

• Batten disease

• Batten Turner congenital myopathy

• Baylisascaris infection

• Bazex syndrome

• Bazex-Dupre-Christol syndrome

• Bazex-Dupré-Christol syndrome

• BBB syndrome

• BBGD

• BBS

• BBS

• BBS

• BBS

• BBS

• BBS

• BBS1

• BBS10

• BBS11

• BBS12

• BBS2

• BCD

• BCD syndrome

• B-cell expansion with NFKB and T-cell anergy

• B-cell expansion with NF-kB and T-cell anergy disease

• B-cell lymphoma

• BCIE

• BCKD deficiency

• BCKDH deficiency

• BCM

• BCPM

• BD

• Bd syndrome

• Bd syndrome

• BDA1

• BDA2

• BDA3

• BDA4

• BDA6

• BDC

• BDC

• BDCS

• BDMF

• BDPLT11

• BDS

• Beals syndrome

• Beals-Hecht syndrome

• Bean syndrome

• Beare stevenson syndrome

• Beare-Stevenson cutis gyrata syndrome

• BEB

• Bechterew syndrome

• Becker melanosis

• Becker muscular dystrophy

• Becker naevus

• Becker nevus

• Becker nevus syndrome

• Becker's muscular dystrophy

• Becker's nevus

• Beckwith-Wiedemann syndrome

• Bednar tumor

• Bedouin spastic ataxia syndrome

• BEEC

• Beemer Ertbruggen syndrome

• Beemer Langer syndrome

• Beemer lethal malformation syndrome

• Begeer syndrome

• Behavioral variant of frontotemporal dementia

• Behçet disease

• Behcet syndrome

• Behçet syndrome

• Behçet’s disease

• Behcet's disease

• Behçet's disease

• Behcet's syndrome

• Behçet's syndrome

• Behr syndrome

• Behrens Baumann Dust syndrome

• Behrens-Baumann-Vogel syndrome

• Bejel

• Belgian type mental retardation syndrome

• Bell palsy

• Bellini carcinoma

• Bellini Chiumello Rimoldi syndrome

• Bellini duct carcinoma

• Bellini syndrome

• Bellini’s duct carcinoma

• Bell's palsy

• BEN

• Ben Ari Shuper Mimouni syndrome

• Ben Ari-Shuper-Mimouni syndrome

• Benallegue Lacete syndrome

• Bencze syndrome

• Benign angiitis of the central nervous system

• Benign autosomal dominant myopathy

• Benign chronic pemphigus

• Benign chronic T-cell infiltrative disorder

• Benign cystic peritoneal mesothelioma

• Benign eccrine spiradenoma

• Benign epilepsy of childhood with centrotemporal spikes (BECCT)

• Benign epilepsy with centro-temporal spikes (BECTS)

• Benign essential blepharospasm

• Benign essential hematuria

• Benign familial infantile convulsions syndrome

• Benign familial infantile epilepsy

• Benign familial macrocephaly

• Benign familial megalencephaly

• Benign familial neonatal convulsions

• Benign familial neonatal convulsions

• Benign familial neonatal epilepsy

• Benign familial neonatal seizures

• Benign familial neonatal seizures

• Benign familial neonatal-infantile seizures

• Benign familial pemphigus

• Benign focal amyotrophy

• Benign giant lymphoma

• Benign hereditary chorea

• Benign hereditary nephritis

• Benign lymphocytic infiltration

• Benign mesenchymal melanoma

• Benign mesonephroma

• Benign metastasizing leiomyoma

• Benign migratory glossitis

• Benign mucous membrane pemphigoid

• Benign multicystic peritoneal mesothelioma

• Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract

• Benign occipital epilepsy

• Benign paroxysmal peritonitis

• Benign paroxysmal positional vertigo

• Benign Pemphigus

• Benign pseudohypertrophic muscular dystrophy

• Benign recurrent aseptic meningitis

• Benign recurrent intrahepatic cholestasis

• Benign recurrent intrahepatic cholestasis 1

• Benign recurrent intrahepatic cholestasis 2

• Benign recurrent lymphocytic meningitis

• Benign rolandic epilepsy (BRE)

• Benign rolandic epilepsy of childhood (BREC)

• Benign schwannoma

• Benign symmetrical lipomatosis

• Benign thunderclap headache

• Bennion-Patterson syndrome

• Bent bone dysplasia (BBD)-FGFR2 type

• Bent bone dysplasia syndrome

• Bent spine

• Bent Spine Syndrome

• BENTA disease

• Beradinelli-Seip syndrome

• Berardinelli Seip congenital lipodystrophy type 2

• Berardinelli syndrome

• Berardinelli-Seip congenital lipodystrophy

• Berardinelli-Seip congenital lipodystrophy type 1

• Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy

• Berardinelli-Seip syndrome

• Berdon syndrome

• Berger disease

• Berger's disease

• Beriberi

• Berk-Tabatznik syndrome

• Berlin Breakage syndrome

• Berman syndrome

• Bernard-Horner Syndrome

• Bernard-Soulier syndrome

• Bernhardt-Roth syndrome

• Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification

• Beryllium disease

• Beryllliosis

• Best disease

• Best macular dystrophy

• Best vitelliform macular dystrophy

• Beta galactosidase deficiency type 1

• Beta galactosidase 1 deficiency

• Beta ketothiolase deficiency

• Beta thalassemia intermedia

• Beta thalassemia major

• Beta thalassemia minor

• Beta-1,4-galactosyltransferase deficiency

• Beta-2-microglobulin amyloidosis

• Beta-galactosidase deficiency type 3

• Beta-galactosidase-1 deficiency

• Beta-galactosidosis

• Beta-glucuronidase deficiency

• Beta-hexosaminidase-beta-subunit deficiency

• Beta-hydroxyisobutyryl-CoA deacylase deficiency

• Betalipoprotein deficiency disease

• Beta-mannosidase deficiency

• Beta-mannosidosis

• Beta-mercaptolactate cysteine disulfiduria

• BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION

• Beta-Propeller Protein-Associated Neurodegeneration

• Beta-sarcoglycan limb-girdle muscular dystrophy

• Beta-sarcoglycanopathy

• Beta-thalassemia

• Bethlem myopathy

• Beukes familial hip dysplasia

• BFHD

• BFIC

• BFIC1

• BFIS1

• BFLS

• BFNC/Myokymia syndrome

• BFNIS

• BFNS

• BFPP

• BGMR

• BGS

• BH4 deficiency

• BHD

• BHD syndrome

• BHDS

• Bicarbonate-wasting RTA

• Bickerstaff migraine

• Bidirectional tachycardia

• Bidirectional tachycardia induced by catecholamine

• Bidirectional ventricular tachycardia

• Biedl-Bardet Syndrome

• Biemond ataxia

• Biemond syndrome

• Biemond syndrome 2

• Biemond syndrome type 1

• Bier spots

• Biermer anemia

• Bietti tapetoretinal degeneration with marginal corneal dystrophy

• Bifid cranium

• Bifid nose

• Bifid nose with or without anorectal and renal anomalies

• Bifid tongue

• Bifunctional enzyme deficiency

• Bifurcation of distal humerus with oligoectro-syndactyly

• Bilateral absence of the tibia

• Bilateral acoustic neurofibromatosis

• Bilateral anophthalmia, esophageal atresia, and right cryptorchidism

• Bilateral anorchia

• Bilateral band-like calcification with polymicrogyria

• Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

• Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance

• Bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch

• Bilateral frontal polymicrogyria

• Bilateral frontoparietal polymicrogyria

• Bilateral generalised polymicrogyria

• Bilateral generalized polymicrogyria

• Bilateral Kienbock's disease

• Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma

• Bilateral occipital calcifications with epilepsy

• Bilateral parasagittal parieto-occipital polymicrogyria

• Bilateral perisylvian polymicrogyria

• Bilateral periventricular nodular heterotopia

• Bilateral radial aplasia with Wilms tumor

• Bilateral radial defects club foot deformity micrognathia and cleft palate

• Bilateral renal agenesis dominant type

• Bilateral right-sidedness sequence

• Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects

• Bilateral striopallidodentate calcinosis

• Bilateral striopallidodentate calcinosis childhood-onset

• Bilateral temporal lobe disorder

• Bilateral trigger thumb (type)

• Bilateral ulnar hypoplasia and mental retardation

• Bilateral Wilms tumor

• Bilateral, annular limbal dermoids with corneal and conjunctival extension

• Bile acid synthesis defect, congenital, 4

• Bile duct cancer

• Bile duct cysts

• Bilginturan syndrome

• Bilharzia

• Biliary atresia

• Biliary atresia intrahepatic non syndromic form

• Biliary atresia intrahepatic syndromic form

• Biliary hypoplasia

• Biliary tract cancer

• Bilirubin encephalopathy

• Billet Bear syndrome

• Bimanual synergia

• Bimanual synkinesis

• Binder syndrome

• Bindewald Ulmer Muller syndrome

• Binswanger's disease

• Biodefective growth hormone

• Biotin deficiency

• Biotinidase deficiency

• Biotin-responsive basal ganglia disease

• Biotin-thiamine-responsive basal ganglia disease

• Biphenotypic acute leukemia

• Bipolar affective disorder

• Bird-headed dwarfism microcephaly micrognathia

• Bird-headed dwarfism with features of premature senility

• Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency

• Birdshot chorioretinitis

• Birdshot chorioretinopathy

• Birdshot retinochoroiditis

• Birdshot retinochoroidopathy

• Birk Barel mental retardation dysmorphism syndrome

• Birk-Barel syndrome

• Birt Hogg Dube syndrome

• Birt-Hogg-Dube syndrome

• Bitemporal aplasia cutis congenita

• Bitemporal forceps marks syndrome

• Bixler Christian Gorlin syndrome

• Bizarre parosteal osteochondromatous proliferation

• Bjornstad syndrome

• BJS

• B-K mole syndrome

• BKN

• BK-virus nephropathy

• BKVN

• BL

• Black Baine

• Black hairy tongue - not a rare disease

• Black lung disease

• Blackfan Diamond syndrome

• Blackfan-Diamond anemia

• Bladder cancer - not a rare disease

• Bladder exstrophy

• Bladder exstrophy-epispadias-cloacal extrophy complex

• Bladder pain syndrome

• Blaschkoid LP

• Blastic NK-cell lymphoma

• Blastic plasmacytoid dendritic cell

• Blastic plasmacytoid dendritic cell neoplasm

• Blastomycosis

• Blau syndrome

• BLC-PMG

• BLCPMG

• Bleeding diathesis due to a collagen receptor defect

• Bleeding diathesis due to glycoprotein VI deficiency

• Bleeding disorder due to ADP platelet receptor P2Y12 defect

• Bleeding disorder due to P2RX1 defect, somatic

• Bleeding disorder due to P2RY12 defect

• Bleeding disorder due to P2Y12 defect

• Bleeding disorder due to primary defects in platelet release mechanism

• Bleeding disorder, platelet-type 8

• Blepharo naso facial syndrome Van maldergem type

• Blepharochalasis - double lip

• Blepharochalasis and double lip

• Blepharochalasis-double lip syndrome

• Blepharocheilodontic syndrome

• Blepharo-cheilo-dontic syndrome

• Blepharocheilodontic syndrome 1

• Blepharo-cheilo-odontic syndrome

• Blepharofacioskeletal syndrome

• Blepharonasofacial malformation syndrome

• Blepharophimosis

• Blepharophimosis - ptosis - esotropia - syndactyly - short stature

• Blepharophimosis intellectual disability syndromes

• Blepharophimosis mental retardation syndromes

• Blepharophimosis radioulnar synostosis

• Blepharophimosis syndrome Ohdo type

• Blepharophimosis types 1 and 2

• Blepharophimosis with ptosis, syndactyly, and short stature

• Blepharophimosis, arachnodactyly, and congenital contractures

• Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)

• Blepharophimosis-epicanthus inversus-ptosis syndrome

• Blepharophimosis-intellectual disability syndrome

• Blepharophimosis-ptosis-epicanthus inversus syndrome

• Blepharoptosis myopia ectopia lentis

• Blepharospasm

• Blepharospasm - oromandibular dystonia

• Blepharospasm-oromandibular dystonia

• Blepharospasm-oromandibular dystonia syndrome

• BLM

• Bloch-Sulzberger syndrome

• Blomstrand lethal osteochondrodysplasia

• Blomstrand's lethal chondrodysplasia

• Blood fluke

• Bloom syndrome

• Bloom-Torre-Machacek syndrome

• Blount disease

• Blount-Barber syndrome

• Blount's disease

• BLS

• BLS 2

• BLS type 1

• BLT syndrome

• Blue baby syndrome

• Blue cone monochromatism

• Blue diaper syndrome

• Blue neuronevus

• Blue nevus

• Blue rubber bleb nevus

• Blue rubber bleb nevus syndrome

• BMFS

• BMRS

• BMS

• BO syndrome 1

• Bobble head doll syndrome

• Bobble-head doll syndrome

• BOCD

• Bockenheimer syndrome

• BOD syndrome

• Boder syndrome

• Body stalk anomaly

• BOE

• Boerhaave syndrome

• Boerhaave's syndrome

• Boerhave syndrome

• BOFS syndrome

• Bohring 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

• Bone dysplasia with medullary fibrosarcoma

• Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

• Bone marrow necrosis - not a rare disease

• Bonneau-Beaumont syndrome

• Bonnemann Meinecke Reich syndrome

• Bonnemann Meinecke syndrome

• Bonnet-Decaume-Blanc syndrome

• Bonnevie-Ulrich syndrome

• Book syndrome

• Boomerang dysplasia

• Boomerang-like skeletal dysplasia

• BOOP

• Booth-Haworth-Dilling syndrome

• BOR syndrome

• Bordetella pertussis infection

• BOR-Duane hydrocephalus contiguous gene syndrome

• BORJ

• Borjeson Syndrome

• Borjeson-Forssman-Lehmann syndrome

• Bork Stender Schmidt syndrome

• Bork syndrome

• Borreliosis

• Borrone Di Rocco Crovato syndrome

• BOS

• BOS syndrome

• BOS1

• Bosley Salih Alorainy syndrome

• Bosma arhinia microphthalmia syndrome

• Bosma Henkin Christiansen syndrome

• Bothriocephalosis

• Botryoid rhabdomyosarcoma (type of ERMS)

• Botulism

• Boucher-Neuhäuser syndrome

• Boudhina Yedes Khiari syndrome

• Bow hunter's stroke

• Bow hunter's syndrome

• Bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay

• Bowen Hutterite syndrome (formerly)

• Bowen-Conradi Hutterite 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

• Bowing, congenital, with short bones

• Boylan Dew Greco syndrome

• BP

• BPAN

• BPD

• BPDCN

• BPES

• BPNH

• BPOP

• BPPV

• BPS

• Brachial amelia, cleft lip, and forebrain defects

• Brachial amelia, cleft lip, and holoprosencephaly

• Brachial plexus neuropathy, hereditary

• Brachioskeletogenital syndrome

• Brachmann de Lange syndrome

• Brachycephalofrontonasal dysplasia

• Brachycephaly, deafness, cataract and mental retardation

• Brachydactylous dwarfism Mseleni type

• Brachydactylous dwarfs of Mseleni

• Brachydactyly - not a rare disease

• Brachydactyly - nystagmus - cerebellar ataxia

• Brachydactyly absence of distal phalanges

• Brachydactyly and intraventricular conduction defect

• Brachydactyly anonychia

• Brachydactyly Ballard type

• Brachydactyly combined B and E types

• Brachydactyly elbow wrist dysplasia

• Brachydactyly Farabee type

• Brachydactyly Haws type

• Brachydactyly long thumb type

• Brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face

• Brachydactyly Mononen type

• Brachydactyly of the hands and feet with duplication of the first toes

• Brachydactyly preaxial with hallux varus and thumb abduction

• Brachydactyly small stature face anomalies

• Brachydactyly Smorgasbord type

• Brachydactyly Temtamy type

• Brachydactyly tibial hypoplasia

• Brachydactyly type A1

• Brachydactyly type A2

• Brachydactyly type A3

• Brachydactyly type A4

• Brachydactyly type A5

• Brachydactyly type A5 nail dysplasia

• Brachydactyly type A6

• Brachydactyly type A7

• Brachydactyly type B

• Brachydactyly type C

• Brachydactyly type E

• Brachydactyly type E with short stature and hypertension

• Brachydactyly types B and E combined

• Brachydactyly with absence of middle phalanges and hypoplastic nails

• Brachydactyly with hypertension

• brachydactyly with joint dysplasia

• Brachydactyly with major proximal phalangeal shortening

• Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys

• Brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle

• Brachydactyly, nystagmus and cerebellar ataxia

• Brachydactyly-clinodactyly

• Brachydactyly-distal symphalangism syndrome

• Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia

• Brachydactyly-Intellectual disability syndrome

• Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

• Brachydactyly-nystagmus-cerebellar ataxia syndrome

• Brachydactyly-scoliosis-carpal fusion syndrome

• Brachymelic primordial dwarfism

• Brachymesomelia renal syndrome

• Brachymesomelia-renal syndrome

• Brachymesophalangy 2

• Brachymesophalangy 5

• Brachymesophalangy II and V

• Brachymesophalangy type 2

• Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities

• Brachymetapody anodontia hypotrichosis albinoidism

• Brachymorphism onychodysplasia dysphalangism syndrome

• Brachymorphism-onychodysplasia-dysphalangism syndrome

• Brachyolmia

• Brachyolmia autosomal dominant

• Brachyolmia Maroteaux type

• Brachyolmia type 2

• Brachyolmia type 3

• Brachyphalangy, polydactyly and absent tibiae

• Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

• Brachyrachia

• Bradbury Eggleston syndrome

• Bradbury-Eggleston syndrome

• Braddock Carey syndrome

• Braddock Jones Superneau syndrome

• Braddock-Jones-Superneau syndrome

• Bradyopsia

• Bradyopsia

• Brain dopamine-serotonin vesicular transport disease

• Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

• Brain stem cancer

• Brain tumor, adult

• Brain tumor, childhood

• BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL

• Brain tumor-polyposis syndrome

• Brain-bone-fat disease

• Brain-lung-thyroid syndrome

• Brainstem migraine

• Branched chain ketoaciduria

• Branched-chain 2-ketoacid dehydrogenase deficiency

• Branched-chain alpha-keto acid dehydrogenase deficiency

• Branched-chain ketoaciduria

• Brancher deficiency

• Branchial arch defects

• Branchial arch syndrome X-linked

• Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging

• Branchial dysplasia clubfoot inguinal hernia and biliary atresia

• Branchio oto renal syndrome

• Branchiooculofacial syndrome

• Branchiootic dysplasia

• Branchiootic syndrome

• Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome

• Branchiootorenal dysplasia

• Branchiootorenal syndrome

• Branchioskeletogenital syndrome

• Branchio-skeleto-genital syndrome

• Brandt syndrome

• Brandywine type dentinogenesis imperfecta

• Brauer syndrome

• Brauer-Buschke-Fischer syndrome

• Brazilian achondrogenesis

• Brazilian pemphigus

• Brazilian pemphigus foliaceus

• BRBNS

• BRCA1 hereditary breast and ovarian cancer syndrome

• BRCA2 hereditary breast and ovarian cancer syndrome

• Breast angiosarcoma

• Breast cancer in men

• Breast cancer, familial

• Breast cancer, male

• Brenner tumor of ovary

• Brenner tumor of the vagina

• Bri amyloidosis

• BRIC

• BRIC1

• BRIC2

• Bright's disease

• Brill-Zinsser disease

• Brittle bone disease

• Brittle bone syndrome lethal type

• Brittle cornea syndrome

• Brittle diabetes

• Brittle diabetes mellitus

• Brittle hair and mental deficit

• Brittle type 1 diabetes

• BRKS1

• BRKS2

• Broad beta disease

• Broad gyri of cerebrum

• Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses

• Broad thumb-hallux syndrome

• Broad thumbs and great toes, characteristic facies, and mental retardation

• Broad thumbs-halluces syndrome

• Broad-betalipoproteinemia

• Brocq pseudopelade

• Brocq-Duhring disease

• Brodie Chole Griffin syndrome

• Brody disease

• Brody myopathy

• Broken heart syndrome

• Broken-heart syndrome

• Bronchial adenomas/carcinoids childhood

• Bronchial carcinoids

• Bronchiectasis oligospermia

• Bronchiolitis obliterans

• Bronchiolitis obliterans organizing pneumonia

• Bronchogenic cyst

• Bronchopulmonary dysplasia

• Brooke-Fordyce trichoepitheliomas

• Brooke-Spiegler syndrome

• Brooks Wisniewski Brown syndrome

• BROVCA1

• BROVCA2

• Brown syndrome

• Brown-Sequard syndrome

• Brown-Vialetto-van Laere syndrome

• Brown-Vialetto-Van Laere syndrome 2

• BRRS

• BRSS

• Bruce Winship syndrome

• Brucellosis

• Bruck syndrome 1

• Bruck syndrome 2

• Bruck syndrome-1

• Brueghel syndrome

• Brugada syndrome

• Brugada syndrome 3

• Brugada syndrome 4

• Brunner syndrome

• Brunner-Winter syndrome

• Brunsting Perry syndrome

• Brunsting-Perry syndrome

• Brunzell syndrome

• Bruton type agammaglobulinemia

• Bruton's agammaglobulinemia

• Bruyn Scheltens syndrome

• BRWS

• BS

• BS2

• BSAS

• BSCL

• BSCL1

• BSCL2-Related Brunzell syndrome

• BSCR

• BSG syndrome

• BSND

• BSPDC

• BSS

• BTD deficiency

• BTHS

• BTK-deficiency

• Bubonic plague

• BUD

• Budd-Chiari syndrome

• Buerger disease

• Buerger's disease

• Bulbospinal muscular atrophy

• Bull teeth

• Bulldog syndrome

• Bull-Nixon syndrome

• Bullous acrokeratotic poikiloderma of kindler and weary

• Bullous cellulitis with eosinophilia

• Bullous congenital ichthyosiform erythroderma

• Bullous dystrophy hereditary macular type

• Bullous erythroderma ichthyosiformis congenita of Brocq

• Bullous ichthyosiform erythroderma

• Bullous ichthyosiform erythroderma congenita

• Bullous papular urticaria - type

• Bullous pemphigoid

• Bullous type of ichthyosis

• Burger-Grutz syndrome

• Burkholderia mallei

• Burkholderia mallei infection

• Burkholderia pseudomallei infection

• Burkitt lymphoma

• Burkitt's lymphoma

• Burn Goodship syndrome

• Burning mouth disorder

• Burton skeletal dysplasia

• Burton syndrome

• Burton syndrome

• Buruli ulcer

• Buruli ulcer disease

• Buschke Lowenstein tumor

• Buschke Ollendorff syndrome

• Buschke's scleredema

• Bustos Simosa Pinto Cisternas syndrome

• Butterfly dystrophy of retinal pigment epithelium

• Butterfly-shaped pigment dystrophy of the fovea

• Buttiens Fryns syndrome

• Butyrylcholinesterase deficiency

• bvFTD

• BVMD

• BVVLS

• BWCNS

• BXL4-Related Early-Onset Mitochondrial Encephalopathy

• Byler disease

• Byler's disease

• Byssinosis

• BZS

• BZX

NIH genetic and rare disease info

• NIH info on List of rare diseases-B

List of rare diseases-B is a rare disease.