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- B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1
- B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1
- B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH
- B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
- B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged
- B-ALL
- B-ALL with t(9;22)(q34.1;q11.2)
- B-cell chronic lymphocytic leukemia
- B-cell chronic lymphoid leukemia
- B-cell expansion with NF-kB and T-cell anergy disease
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
- B-cell NHL
- B-cell non-Hodgkin lymphoma
- B-cell prolymphocytic leukemia
- B-CLL
- B-K mole syndrome
- B-lymphoblastic leukemia/lymphoma with hyperdiploidy
- B-lymphoblastic leukemia/lymphoma with hypodiploidy
- B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
- B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
- B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
- B-lymphoblastic leukemia/lymphoma with t(17;19)
- B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
- B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
- B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
- B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
- B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
- B-PLL
- B3GALT6-related spEDS
- B3GALT6-related spondylodysplastic EDS
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- B4GALT1-CDG
- B4GALT7-related spondylodysplastic EDS
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Babesiosis
- Bachmann-Bupp syndrome
- Bacterial myositis
- Bacterial toxic-shock syndrome
- Bacterial TSS
- BADI
- BAFME
- BAG3-related myofibrillar myopathy
- BAGOS
- Bahemuka-Brown syndrome
- Baillarger syndrome
- Bainbridge-Ropers syndrome
- Baird syndrome
- Baker-Gordon syndrome
- Bakrania-Ragge syndrome
- Balanced complete atrioventricular canal
- Balanced partial atrioventricular canal
- Balantidiasis
- Balantidiosis
- Balikova-Vermeesch syndrome
- Balint syndrome
- Balint-Holmes syndrome
- Baller-Gerold syndrome
- Ballooning cardiomyopathy
- Baló concentric sclerosis
- Bamboo hair syndrome
- Bamforth syndrome
- Bamforth-Lazarus syndrome
- Band-shaped and whorled microcystic dystrophy of the corneal epithelium
- Bangstad syndrome
- Banki syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Bantu siderosis
- BAP
- BAP1-related tumor predisposition syndrome
- Baraitser-Brett-Piesowicz syndrome
- Baraitser-Burn syndrome
- Baraitser-Reardon syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Barakat syndrome
- Baralle-Macken syndrome
- Barber-Say syndrome
- Bardet-Biedl syndrome
- Bare lymphocyte syndrome type 1
- Bare lymphocyte syndrome type 2
- Barnes syndrome
- Baroreflex failure
- Barraquer-Simons syndrome
- Bart-Pumphrey syndrome
- Barth syndrome
- Bartonella bacilliformis infection
- Bartonellosis due to Bartonella henselae infection
- Bartonellosis due to Bartonella quintana infection
- Bartonellosis due to infection with Bartonella bacilliformis
- Bartsocas-Papas syndrome
- Bartter syndrome
- Bartter syndrome type 1
- Bartter syndrome type 2
- Bartter syndrome type 3
- Bartter syndrome type 4
- Bartter syndrome type 5
- Bartter syndrome type I
- Bartter syndrome type II
- Bartter syndrome type III
- Bartter syndrome type IV
- Bartter syndrome type V
- Bartter syndrome with sensorineural deafness
- Bartter syndrome with sensorineural hearing loss
- Basal cell carcinoma of the buccal mucosa
- Basal cell carcinoma of the oral cavity
- Basal cell carcinoma of vulva
- Basal cell nevus syndrome
- Basal encephalocele
- Basan-Baird syndrome
- BASD
- BASD1
- BASD2
- BASD3
- BASD4
- Basel-Vanagaite-Sirota syndrome
- Basel-Vanagaite-Smirin-Yosef syndrome
- BASM syndrome
- Bassen-Kornzweig disease
- Bassoe syndrome
- Bathing suit ichthyosis
- Battaglia-Neri syndrome
- Batten-Spielmeyer-Vogt-Sjögren disease
- Baughman syndrome
- Bazex syndrome
- Bazex-Dupré-Christol syndrome
- BBGD
- BBIS
- BBS
- BBSOAS
- BCAS3-related neurodevelopmental disorder
- BCD
- BCD syndrome
- BCIE
- BCKD deficiency
- BCKDH deficiency
- BCR-ABL1-like B-ALL
- BCS
- BDC
- BDCS
- BDUMP
- BDV syndrome
- Beals syndrome
- Beals-Hecht syndrome
- Bean syndrome
- Beare-Stevenson cutis gyrata syndrome
- Beaulieu-Boycott-Innes syndrome
- Beck-Fahrner syndrome
- Becker dystrophinopathy
- Becker melanosis
- Becker muscular dystrophy
- Becker naevus syndrome
- Becker nevus syndrome
- Beckwith-Wiedemann syndrome
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion
- Beckwith-Wiedemann syndrome due to 11p15 microduplication
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
- Beckwith-Wiedemann syndrome due to CDKN1C mutation
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
- Beckwith-Wiedemann syndrome due to NSD1 mutation
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
- BECRS
- BECTS
- Bedouin spastic ataxia syndrome
- BEEC
- Beemer-Ertbruggen syndrome
- BEFAHRS
- Behavioral variant of frontotemporal dementia
- Behr complicated familial optic atrophy
- Behr syndrome
- Behçet disease
- Bellini carcinoma
- Bellini duct carcinoma
- Benallegue-Lacete syndrome
- Bencze syndrome
- Benign adult familial myoclonus epilepsy
- Benign atrophic papulosis
- Benign cephalic histiocytosis
- Benign childhood occipital epilepsy, Panayiotopoulos type
- Benign chronic familial pemphigus
- Benign concentric annular macular dystrophy
- Benign congenital sixth cranial nerve palsy
- Benign COX deficiency
- Benign epilepsy of childhood with centrotemporal spikes
- Benign epithelial tumor of salivary glands
- Benign familial chorea
- Benign familial epilepsy of childhood with rolandic spikes
- Benign familial infantile convulsions
- Benign familial infantile epilepsy
- Benign familial infantile seizures
- Benign familial neonatal convulsions
- Benign familial neonatal epilepsy
- Benign familial neonatal seizures
- Benign familial neonatal-infantile seizures
- Benign focal amyotrophy
- Benign focal seizures of adolescence
- Benign hereditary chorea
- Benign hyperferritinemia
- Benign infantile focal epilepsy with midline spikes and waves during sleep
- Benign intracranial hypertension
- Benign metanephric tumor
- Benign multicystic peritoneal mesothelioma
- Benign myoclonic epilepsy of infancy
- Benign myoclonus epilepsy of infancy
- Benign neonatal-infantile epilepsy
- Benign nocturnal alternating hemiplegia of childhood
- Benign occipital epilepsy
- Benign paroxysmal peritonitis
- Benign paroxysmal tonic upgaze of childhood with ataxia
- Benign paroxysmal torticollis of infancy
- Benign partial infantile seizures
- Benign peripheral nerve sheath tumor
- Benign recurrent intrahepatic cholestasis
- Benign recurrent intrahepatic cholestasis type 1
- Benign recurrent intrahepatic cholestasis type 2
- Benign recurrent polyserositis
- Benign rolandic epilepsy
- Benign Samaritan congenital myopathy
- Benign schwannoma
- Benign tumor of fallopian tubes
- Benign vascular tumor
- Bennion-Patterson syndrome
- Benson syndrome
- Bent bone dysplasia
- BENTA disease
- Berant syndrome
- Berardinelli-Seip congenital lipodystrophy
- Berardinelli-Seip syndrome
- Berardinelli-Seip syndrome associated to PPARG
- Berardinelli-Seip syndrome type 1
- Berardinelli-Seip syndrome type 2
- Berardinelli-Seip syndrome type 3
- Berardinelli-Seip syndrome type 4, BSCL type 4
- Berdon syndrome
- Berger disease
- Berlin breakage syndrome
- Berlin syndrome
- Bernard-Soulier syndrome
- Berti lymphoma
- Berylliosis
- Besnier-Boeck-Schaumann disease
- Bessel-Hagen disease
- Best disease
- Best macular dystrophy
- Best vitelliform macular dystrophy
- Beta-1,4-galactosyltransferase deficiency
- Beta-alanine synthase deficiency
- Beta-D-galactosidase deficiency
- Beta-galactosidase-1 deficiency
- Beta-glucuronidase deficiency
- Beta-hexosaminidase subunit alpha deficiency
- Beta-hexosaminidase subunit alpha deficiency, adult form
- Beta-hexosaminidase subunit alpha deficiency, infantile form
- Beta-hexosaminidase subunit alpha deficiency, juvenile form
- Beta-hexosaminidase subunit beta deficiency, adult form
- Beta-hexosaminidase subunit beta deficiency, infantile form
- Beta-hexosaminidase subunit beta deficiency, juvenile form
- Beta-ketothiolase deficiency
- Beta-mannosidase deficiency
- Beta-mannosidosis
- Beta-mercaptolactate cysteine disulfiduria
- Beta-propeller protein-associated neurodegeneration
- Beta-sarcoglycan-related LGMD R4
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- Beta-sarcoglycanopathy
- Beta-thalassemia
- Beta-thalassemia and related diseases
- Beta-thalassemia associated with another Hb anomaly
- Beta-thalassemia associated with another hemoglobin anomaly
- Beta-thalassemia intermedia
- Beta-thalassemia major
- Beta-thalassemia with other manifestations
- Beta-thalassemia-X-linked thrombocytopenia syndrome
- Beta-ureidopropionase deficiency
- Beta2-microglobulinic amyloidosis
- Beta3GalT6-deficient EDS
- Bethlem muscular dystrophy
- Bethlem myopathy
- Beukes familial hip dysplasia
- BFHD
- BFIE
- BFIS
- BFLS
- BFNIS
- BFNS
- BH4-responsive HPA/PKU
- BH4-responsive hyperphenylalaninemia/phenylketonuria
- BHC
- BHFS
- BHMED
- Biber-Haab-Dimmer dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
- Bicervical bicornuate uterus
- Bicervical bicornuate uterus and blind hemivagina
- Bicervical bicornuate uterus with patent cervix and vagina
- Bickers-Adams syndrome
- Bickerstaff brainstem encephalitis
- Bicornuate uterus
- BID
- Bidirectional ventricular tachycardia induced by catecholamine
- Biemond syndrome
- Biemond syndrome type 2
- Bietti crystalline corneoretinal dystrophy
- Bietti crystalline dystrophy
- Bietti crystalline retinopathy
- Bifid femur-monodactylous ectrodactyly syndrome
- Bifid nose
- Bifid nose with or without anorectal and renal anomalies
- Bifid uvula
- Bifidity of the uvula
- Bifunctional enzyme deficiency
- BIID
- Bilateral acute depigmentation of the iris
- Bilateral adrenal hemorrhage
- Bilateral and symmetric oto-mandibular dysplasia
- Bilateral anorchia
- Bilateral anterior opercular syndrome
- Bilateral band-like calcification with polymicrogyria
- Bilateral diffuse uveal melanocytic proliferation disease
- Bilateral frontal polymicrogyria
- Bilateral frontoparietal polymicrogyria
- Bilateral generalized polymicrogyria
- Bilateral hereditary micro-epiphyseal dysplasia
- Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
- Bilateral lambdoid and sagittal synostosis
- Bilateral massive adrenal hemorrhage
- Bilateral MCDK
- Bilateral microtia-deafness-cleft palate syndrome
- Bilateral microtia-hearing loss-cleft palate syndrome
- Bilateral multicystic dysplastic kidney
- Bilateral multicystic renal dysplasia
- Bilateral parasagittal parieto-occipital polymicrogyria
- Bilateral perisylvian polymicrogyria
- Bilateral polymicrogyria
- Bilateral striopallidodentate calcinosis
- Bilateral symmetrical thalamic gliosis
- Bile acid CoA ligase deficiency and defective amidation
- Bile acid synthesis defect with cholestasis and malabsorption
- Bile duct cancer
- Bilginturan brachydactyly
- Bilginturan syndrome
- Bilharziasis
- Biliary atresia and associated disorders
- Biliary atresia with splenic malformation syndrome
- Biliary cystadenocarcinoma
- Biliary hamartoma
- Bilirubin encephalopathy
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
- Bilirubin-induced neurological dysfunction
- Bilirubin-UGT deficiency
- Bilirubin-UGT deficiency type 1
- Bilirubin-UGT deficiency type 2
- Billard-Toutain-Maheut syndrome
- BILU syndrome
- BIMSE
- BIND
- Binder syndrome
- Bindewald-Ulmer-Müller syndrome
- Biological anomaly without phenotypic characterization
- Biotin-responsive basal ganglia disease
- Biotin-thiamine-responsive basal ganglia disease
- Biotinidase deficiency
- Biparietal Alzheimer disease
- Bipartite talus
- Bird-headed dwarfism, Montreal type
- Birdshot chorioretinitis
- Birdshot chorioretinopathy
- Birdshot retinochoroiditis
- Birdshot retinochoroidopathy
- Birk-Barel Intellectual Disability-Dimorphism syndrome
- Birk-Barel syndrome
- Birt-Hogg-Dubé syndrome
- Bitemporal aplasia cutis congenita
- Bixler-Christian-Gorlin syndrome
- Björnstad syndrome
- Bladder exstrophy-epispadias-cloacal extrophy complex
- Bladder pain syndrome
- Blake pouch cyst
- Blakemore-Durmaz-Vasileiou syndrome
- Blaschkoid lichen planus
- Blaschkoid LP
- Blastic plasmacytoid dendritic cell neoplasm
- Blastogenesis defect
- Blau syndrome
- BLC
- BLC-PMG
- Bleeding diathesis due to a collagen receptor defect
- Bleeding diathesis due to glycoprotein VI deficiency
- Bleeding diathesis due to integrin alpha2-beta1 deficiency
- Bleeding diathesis due to thromboxane synthesis deficiency
- Bleeding disorder due to ADP platelet receptor P2Y12 defect
- Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
- Bleeding disorder due to CalDAG-GEFI deficiency
- Bleeding disorder due to P2Y12 defect
- Bleeding disorder in hemophilia A carriers
- Bleeding disorder in hemophilia B carriers
- Blepharo-cheilo-odontic syndrome
- Blepharochalasis-double lip syndrome
- Blepharocheilodontic syndrome
- Blepharonasofacial malformation syndrome
- Blepharophimosis syndrome, Ohdo type
- Blepharophimosis-intellectual disability syndrome
- Blepharophimosis-intellectual disability syndrome type V
- Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
- Blepharophimosis-intellectual disability syndrome, MKB type
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
- Blepharophimosis-ptosis-epicanthus inversus syndrome
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
- Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure
- Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Blepharophimosis-telecanthus-microstomia syndrome
- Blepharoptosis-myopia-ectopia lentis syndrome
- Blepharospasm-oromandibular dystonia syndrome
- Blindness-scoliosis-arachnodactyly syndrome
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
- Blomstrand chondrodysplasia
- Blomstrand lethal chondrodysplasia
- Blomstrand osteochondrodysplasia
- Bloom syndrome
- Blount disease
- BLSS
- Blue colour blindness
- Blue cone monochromacy
- Blue cone monochromatism
- Blue diaper syndrome
- Blue rubber bleb nevus
- Blue-dot cataract
- BMAH
- BMD
- BMD
- BMRS type V
- BMRS, Maat-Kievit-Brunner type
- BMRS, MKB type
- BMRS, Ohdo type
- BMRS, Verloes type
- BMS
- BNAR syndrome
- BOCD
- Bockenheimer syndrome
- BOD syndrome
- Boder syndrome
- Body cavity-based lymphoma
- Body integrity dysphoria
- Body integrity identity disorder
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Body stalk anomaly
- Boeck sarcoid
- BOFS
- Bohring syndrome
- Bohring-Opitz syndrome
- Boichis disease
- BOLA3 deficiency
- Bolivian hemorrhagic fever
- Bone dysplasia, lethal Holmgren type
- Bone dysplasia-medullary fibrosarcoma syndrome
- Bone filaminopathy
- Bone fragility-contractures-arterial rupture-deafness syndrome
- Bone fragility-contractures-arterial rupture-hearing loss syndrome
- Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
- Bone necrosis
- Bone necrosis of genetic origin
- Bone sarcoma
- Bonneau syndrome
- Bonnemann-Meinecke syndrome
- Bonnemann-Meinecke-Reich syndrome
- Bonnet-Dechaume-Blanc syndrome
- Boomerang dysplasia
- BOOP
- Booth-Haworth-Dilling syndrome
- BOR syndrome
- Borderline vascular neoplasm
- Borderline vascular tumor
- Borjeson-Forssman-Lehmann syndrome
- Bork syndrome
- Borna virus encephalitis
- Bornavirus encephalitis
- Bornholm eye disease
- Borrmann gastric cancer type 4
- BOS
- BOS syndrome
- Bosch-Boonstra-Schaaf optic atrophy syndrome
- Bosley-Salih-Alorainy syndrome
- Bosma arhinia-microphthalmia syndrome
- Bosma-Henkin-Christiansen syndrome
- Bothnia retinal dystrophy
- Bothriocephalosis
- Botulism
- Boucher-Neuhäuser syndrome
- Bourneville syndrome
- Boutonneuse fever
- Bowen syndrome, Hutterite type
- Bowen-Conradi syndrome
- Boxer's dementia
- Boyadjiev-Jabs syndrome
- BPAN
- BPD
- BPDCN
- BPES
- BPES plus
- BPES type 1
- BPES type 2
- BPNST
- BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
- BPTF-related NEDDFL
- BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- Brachial plexus neuritis
- Brachmann-de Lange syndrome
- Brachycephalofrontonasal dysplasia
- Brachycephaly-deafness-cataract-intellectual disability syndrome
- Brachycephaly-hearing loss-cataract-intellectual disability syndrome
- Brachydactylous dwarfism, Mseleni type
- Brachydactyly type A1
- Brachydactyly type A2
- Brachydactyly type A4
- Brachydactyly type A6
- Brachydactyly type A7
- Brachydactyly type B
- Brachydactyly type B1
- Brachydactyly type B2
- Brachydactyly type C
- Brachydactyly type E
- Brachydactyly type E, with short stature and hypertension
- Brachydactyly, Farabee type
- Brachydactyly, long thumb type
- Brachydactyly, Mohr-Wriedt type
- Brachydactyly, Smorgasbord type
- Brachydactyly, Temtamy type
- Brachydactyly-arterial hypertension syndrome
- Brachydactyly-elbow wrist dysplasia syndrome
- Brachydactyly-intellectual disability syndrome
- Brachydactyly-joint dysplasia syndrome
- Brachydactyly-long thumb syndrome
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- Brachydactyly-nystagmus-cerebellar ataxia syndrome
- Brachydactyly-preaxial hallux varus syndrome
- Brachydactyly-scoliosis-carpal fusion syndrome
- Brachydactyly-short stature-microcephaly syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Brachydactyly-symphalangism syndrome
- Brachydactyly-syndactyly, Zhao type
- Brachymesophalangy II and V
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Brachyolmia
- Brachyolmia type 2
- Brachyolmia type 3
- Brachyolmia, Hobaek/Toledo type
- Brachyolmia, Maroteaux type
- Brachyolmia-amelogenesis imperfecta syndrome
- Brachytelephalangic chondrodysplasia punctata
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Bradbury-Eggleston syndrome
- Braddock syndrome
- Braddock-Jones-Superneau syndrome
- Bradykinine-induced angioedema
- Bradyopsia
- Brailsford disease
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
- Brain calcification, Rajab type
- Brain cortical dysplasia
- Brain dopamine-serotonin vesicular transport disease
- Brain inflammatory disease
- Brain malformation due to abnormal neuronal migration
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
- Brain-lung-thyroid syndrome
- Branch pulmonary artery stenosis
- Branched chain alpha-ketoacid dehydrogenase complex deficiency
- Branched-chain 2-ketoacid dehydrogenase deficiency
- Branched-chain ketoaciduria
- Branchial arch or oral-acral syndrome
- Branchial dysplasia-intellectual disability-inguinal hernia syndrome
- Branchio-oculo-facial syndrome
- Branchiogenic deafness syndrome
- Branchiogenic hearing loss syndrome
- Branchiootic syndrome
- Branchiootorenal spectrum disorder
- Branchiootorenal syndrome
- Branchioskeletogenital syndrome
- Brauer syndrome
- Braun-Bayer syndrome
- Brazilian hemorrhagic fever
- BRBN
- BRE
- Breast implant-associated ALCL
- Breast implant-associated anaplastic large cell lymphoma
- BRESEK syndrome
- BRESHECK syndrome
- BRIC
- BRIC type 1
- BRIC type 2
- BRIC1
- BRIC2
- Brill disease
- Brill-Zinsser disease
- Brittle bone disease
- Brittle cornea syndrome
- Broad thumb-hallux syndrome
- Broad thumbs-halluces syndrome
- Broad-beta disease
- Brody myopathy
- Broken heart syndrome
- Bronchial malformation
- Bronchial NET
- Bronchial neuroendocrine tumor
- Bronchiolitis obliterans
- Bronchiolitis obliterans organizing pneumonia
- Bronchiolitis obliterans syndrome
- Bronchogenic cyst
- Bronchopulmonary dysplasia
- Bronspiegel-Zelnick syndrome
- Bronze John
- Brooke-Spiegler syndrome
- Brown-Vialetto-van Laere syndrome
- BRPF1-related neurodevelopmental disorder
- BRRS
- BRSS
- Brucellosis
- Bruck syndrome
- Brugada syndrome
- Brunner syndrome
- Brunner-Winter syndrome
- Brunner-Winter syndrome type 1
- Brunner-Winter syndrome type 2
- Bruton type agammaglobulinemia
- BSCL
- BSCL type 1
- BSCL type 2
- BSCL type 3
- BSCL type 4
- BSEP deficiency
- BSG syndrome
- BSI
- BSPDC
- BSyn
- BTBGD
- BTHS
- BTK-deficiency
- Buckley syndrome
- Budd-Chiari syndrome
- Buerger disease
- Bulbospinal muscular atrophy
- Bulbospinal muscular atrophy of adult
- Bulbospinal muscular atrophy of childhood
- Bull-Nixon syndrome
- Bullous congenital ichthyosiform erythroderma
- Bullous congenital ichthyosiform erythroderma of Brock
- Bullous DCM
- Bullous diffuse cutaneous mastocytosis
- Bullous ichthyosis
- Bullous impetigo
- Bullous lichen planus
- Bullous pemphigoid
- Bullous pyoderma gangrenosum
- Buphthalmia
- Buphthalmos
- Buphthalmus
- Burkholderia mallei infection
- Burkholderia pseudomallei infection
- Burkitt lymphoma
- Burn-McKeown syndrome
- Burning mouth syndrome
- Burton skeletal dysplasia
- Burton syndrome
- Buschke scleredema
- Buschke-Fischer-Brauer syndrome
- Butterfly-shaped pattern dystrophy
- Butterfly-shaped pigment dystrophy
- Butterfly-shaped pigmentary macular dystrophy
- Buttiens-Fryns syndrome
- bv-FTD
- BVES-related LGMD
- BVES-related limb-girdle muscular dystrophy
- BVMD
- BWS
- Byler disease
- Böök syndrome