B

294 rare conditions. 77 with a recruiting study in our latest snapshot.

B-cell chronic lymphocytic leukemia219 recruitingBloodView → B-cell immunodeficiency-limb anomaly-urogenital malformation syndromeImmuneView → B-cell non-Hodgkin lymphomaBloodGroupView → B-cell prolymphocytic leukemia8 recruitingBloodView → B-lymphoblastic leukemia/lymphoma with hyperdiploidyBloodView → B-lymphoblastic leukemia/lymphoma with hypodiploidyBloodView → B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityBloodView → B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)BloodView → B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)BloodView → B-lymphoblastic leukemia/lymphoma with t(17;19)BloodView → B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)BloodView → B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)BloodView → B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)3 recruitingBloodView → B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)BloodView → B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeConnective TissueView → B4GALT1-CDGView → B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeConnective TissueView → Babesiosis3 recruitingView → Bacterial myositis2 recruitingView → Bacterial toxic-shock syndrome2 recruitingView → BAG3-related myofibrillar myopathyNeuromuscularView → Bainbridge-Ropers syndrome1 recruitingView → BalantidiasisView → Balint syndromeView → Ballard syndromeView → Baller-Gerold syndromeView → Baló concentric sclerosisView → Bamforth-Lazarus syndromeView → Banki syndromeView → Bannayan-Riley-Ruvalcaba syndrome5 recruitingView → BAP1-related tumor predisposition syndrome3 recruitingView → Baraitser-Winter cerebrofrontofacial syndromeView → Barber-Say syndromeView → Bardet-Biedl syndrome7 recruitingView → Baroreflex failure1 recruitingView → Barth syndrome4 recruitingView → Bartonella bacilliformis infectionView → Bartsocas-Papas syndromeView → Bartter Syndrome1 recruitingRenalView → Bartter syndrome type 11 recruitingRenalView → Bartter syndrome type 21 recruitingRenalView → Bartter syndrome type 31 recruitingRenalView → Bartter syndrome type 4RenalView → Bartter syndrome type 5RenalView → Bartter syndrome with hypocalcemia1 recruitingRenalView → Basal encephaloceleView → Basel-Vanagaite-Smirin-Yosef syndromeView → Bathing suit ichthyosisDermatologicalView → Bazex syndromeView → Bazex-Dupré-Christol syndromeView → Becker Muscular Dystrophy61 recruitingNeuromuscularView → Becker nevus syndromeView → Beckwith-Wiedemann syndrome4 recruitingView → Beckwith-Wiedemann syndrome due to 11p15 microdeletionView → Beckwith-Wiedemann syndrome due to 11p15 microduplication1 recruitingView → Beckwith-Wiedemann syndrome due to 11p15 translocation/inversionView → Beckwith-Wiedemann syndrome due to CDKN1C mutation1 recruitingView → Beckwith-Wiedemann syndrome due to imprinting defect of 11p151 recruitingView → Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11View → Beemer-Ertbruggen syndromeView → Behavioral variant of frontotemporal dementia6 recruitingView → Behcet Disease24 recruitingImmuneView → Behr syndromeView → Bencze syndromeView → Benign atrophic papulosisView → Benign cephalic histiocytosisImmuneView → Benign concentric annular macular dystrophyOphthalmologicalView → Benign epithelial tumor of salivary glandsView → Benign focal seizures of adolescenceNeurologicalView → Benign hereditary choreaView → Benign idiopathic neonatal seizuresNeurologicalView → Benign infantile focal epilepsy with midline spikes and waves during sleepNeurologicalView → Benign metanephric tumorView → Benign nocturnal alternating hemiplegia of childhoodView → Benign paroxysmal tonic upgaze of childhood with ataxia1 recruitingNeurologicalView → Benign paroxysmal torticollis of infancyView → Benign partial epilepsy of infancy with complex partial seizuresNeurologicalView → Benign partial epilepsy with secondarily generalized seizures in infancyNeurologicalView → Benign peripheral nerve sheath tumorGroupView → Benign recurrent intrahepatic cholestasis1 recruitingView → Benign recurrent intrahepatic cholestasis type 11 recruitingView → Benign recurrent intrahepatic cholestasis type 21 recruitingView → Benign Samaritan congenital myopathyNeuromuscularView → Benign schwannoma24 recruitingView → Benign tumor of fallopian tubesView → BENTA disease1 recruitingView → Bernard-Soulier syndromeView → Best Disease79 recruitingOphthalmologicalView → Best vitelliform macular dystrophy5 recruitingOphthalmologicalView → Beta-ketothiolase deficiencyView → Beta-mannosidosis3 recruitingView → Beta-propeller protein-associated neurodegeneration1 recruitingNeurologicalView → Beta-sarcoglycan-related limb-girdle muscular dystrophy R41 recruitingNeuromuscularView → Beta-Thalassemia48 recruitingBloodView → Beta-thalassemia and related disordersBloodGroupView → Beta-thalassemia associated with another hemoglobin anomalyBloodGroupView → Beta-thalassemia intermedia42 recruitingBloodView → Beta-thalassemia major46 recruitingBloodView → Beta-thalassemia-trichothiodystrophy syndromeBloodView → Beta-thalassemia-X-linked thrombocytopenia syndrome2 recruitingBloodView → Beta-ureidopropionase deficiency1 recruitingView → Bethlem Myopathy1 recruitingNeuromuscularView → BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyNeuromuscularView → Bicervical bicornuate uterus and blind hemivaginaView → Bicervical bicornuate uterus with patent cervix and vaginaView → Bickerstaff brainstem encephalitisView → BIDS syndromeView → Biemond syndrome type 21 recruitingView → Bietti Crystalline DystrophyOphthalmologicalView → Bifid noseView → Bifid uvulaView → Bifunctional enzyme deficiency1 recruitingView → Bilateral acute depigmentation of the irisView → Bilateral diffuse uveal melanocytic proliferation diseaseView → Bilateral frontal polymicrogyriaNeurologicalView → Bilateral frontoparietal polymicrogyriaNeurologicalView → Bilateral generalized polymicrogyriaNeurologicalView → Bilateral massive adrenal hemorrhageRenalView → Bilateral microtia-deafness-cleft palate syndromeView → Bilateral multicystic dysplastic kidney5 recruitingRenalView → Bilateral parasagittal parieto-occipital polymicrogyriaNeurologicalView → Bilateral perisylvian polymicrogyriaNeurologicalView → Bilateral polymicrogyriaNeurologicalView → Bilateral striopallidodentate calcinosisView → Bile acid CoA ligase deficiency and defective amidationView → Bile acid synthesis defect with cholestasis and malabsorptionGroupView → Biliary atresia and associated disordersGroupView → Biliary atresia with splenic malformation syndromeView → Biliary cystadenocarcinomaOncologyView → Biliary tract malformation-renal failure syndrome1 recruitingRenalView → Bilineal acute leukemia1 recruitingBloodView → Biological anomaly without phenotypic characterizationGroupView → Biotin-thiamine-responsive basal ganglia diseaseView → Biotinidase Deficiency1 recruitingMetabolicView → Bipartite talusView → Birdshot chorioretinopathy3 recruitingView → Birk-Barel syndromeView → Birt-Hogg-Dubé syndromeView → Björnstad syndromeView → Blake pouch cystView → Blastic plasmacytoid dendritic cell neoplasm14 recruitingView → Blau syndrome2 recruitingView → Bleeding diathesis due to a collagen receptor defectView → Bleeding diathesis due to glycoprotein VI deficiencyView → Bleeding diathesis due to integrin alpha2-beta1 deficiencyView → Bleeding diathesis due to thromboxane synthesis deficiencyView → Bleeding disorder due to CalDAG-GEFI deficiencyView → Bleeding disorder due to P2Y12 defectView → Bleeding disorder in hemophilia A carriersBloodView → Bleeding disorder in hemophilia B carriersBloodView → Blepharo-cheilo-odontic syndrome1 recruitingView → Blepharofacioskeletal syndromeView → Blepharonasofacial malformation syndromeView → Blepharophimosis-intellectual disability syndrome due to UBE3B deficiencyView → Blepharophimosis-intellectual disability syndrome, MKB typeView → Blepharophimosis-intellectual disability syndrome, Ohdo type1 recruitingView → Blepharophimosis-intellectual disability syndrome, SBBYS typeView → Blepharophimosis-intellectual disability syndrome, Verloes typeView → Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndromeView → Blepharophimosis-ptosis-epicanthus inversus syndromeView → Blepharophimosis-ptosis-epicanthus inversus syndrome plusView → Blepharophimosis-ptosis-epicanthus inversus syndrome type 1View → Blepharophimosis-ptosis-epicanthus inversus syndrome type 2View → Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndromeView → Blepharoptosis-myopia-ectopia lentis syndromeView → Blepharospasm-oromandibular dystonia syndrome2 recruitingView → Blindness-scoliosis-arachnodactyly syndromeView → Blomstrand lethal chondrodysplasiaView → Bloom syndrome2 recruitingView → Blount diseaseView → Blue cone monochromatism1 recruitingView → Blue diaper syndromeView → Blue rubber bleb nevus1 recruitingView → BNAR syndromeView → Body integrity dysphoriaView → Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyView → Bohring-Opitz syndrome2 recruitingView → Bolivian hemorrhagic feverView → Bone dysplasia, lethal Holmgren typeView → Bonnemann-Meinecke-Reich syndromeView → Böök syndromeView → Boomerang dysplasiaView → BOR syndromeView → Borjeson-Forssman-Lehmann syndromeView → Borna virus encephalitisView → Bosley-Salih-Alorainy syndrome1 recruitingView → Bothnia retinal dystrophyOphthalmologicalView → Botulism1 recruitingView → Boutonneuse feverView → Bowen syndromeView → Bowen-Conradi syndromeView → BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndromeView → Brachydactylous dwarfism, Mseleni typeView → Brachydactyly type A1View → Brachydactyly type A2View → Brachydactyly type A4View → Brachydactyly type A5View → Brachydactyly type A6View → Brachydactyly type A7View → Brachydactyly type BView → Brachydactyly type B1View → Brachydactyly type B2View → Brachydactyly type CView → Brachydactyly type E1 recruitingView → Brachydactyly-arterial hypertension syndromeView → Brachydactyly-elbow wrist dysplasia syndromeView → Brachydactyly-long thumb syndromeView → Brachydactyly-mesomelia-intellectual disability-heart defects syndromeView → Brachydactyly-nystagmus-cerebellar ataxia syndrome1 recruitingNeurologicalView → Brachydactyly-preaxial hallux varus syndromeView → Brachydactyly-short stature-retinitis pigmentosa syndrome1 recruitingOphthalmologicalView → Brachydactyly-syndactyly, Zhao typeView → Brachymorphism-onychodysplasia-dysphalangism syndromeView → Brachyolmia type 1, Hobaek typeView → Brachyolmia type 1, Toledo typeView → Brachyolmia-amelogenesis imperfecta syndromeView → Brachyolmia, Maroteaux typeView → Brachytelephalangic chondrodysplasia punctataView → Brachytelephalangy-dysmorphism-Kallmann syndromeView → Braddock syndromeView → Braddock-Carey syndromeView → BradyopsiaView → Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndromeView → Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutationView → Brain arteriovenous malformation26 recruitingView → Brain dopamine-serotonin vesicular transport diseaseView → Brain inflammatory diseaseGroupView → Brain malformation-congenital heart disease-postaxial polydactyly syndromeView → Brain pial arteriovenous fistulaView → Brain-lung-thyroid syndrome1 recruitingEndocrineView → Branchial arch or oral-acral syndromeGroupView → Branchio-oculo-facial syndromeView → Branchiogenic deafness syndromeView → Branchiootic syndromeView → Branchioskeletogenital syndromeView → Brazilian hemorrhagic feverView → Breast implant-associated anaplastic large cell lymphoma3 recruitingBloodView → BRESEK syndromeView → Brill-Zinsser disease1 recruitingView → Brittle cornea syndromeView → Brittle hair syndrome, Sabinas typeView → Brody myopathyNeuromuscularView → Bronchial neuroendocrine tumor109 recruitingRespiratoryView → Bronchiectasis-oligospermia syndromeRespiratoryView → Bronchiolitis Obliterans Syndrome97 recruitingRespiratoryView → Bronchogenic cystRespiratoryView → Bronchopulmonary dysplasia46 recruitingRespiratoryView → Brooke-Spiegler syndromeView → Brucellosis13 recruitingView → Bruck syndromeView → Brugada Syndrome11 recruitingCardiovascularView → Budd-Chiari syndrome1 recruitingView → Buerger disease2 recruitingView → Bulbospinal muscular atrophyNeuromuscularGroupView → Bullous diffuse cutaneous mastocytosisView → Bullous impetigoView → Bullous lichen planus1 recruitingView → Bullous pemphigoid5 recruitingView → Bullous pyoderma gangrenosumView → Burkitt lymphoma111 recruitingBloodView → Burn-McKeown syndromeView → Burning mouth syndrome3 recruitingView → Butterfly-shaped pigment dystrophyView → BVES-related limb-girdle muscular dystrophyNeuromuscularView → OBSOLETE: Bacterial susceptibility due to TLR signaling pathway deficiencyRetired termView → OBSOLETE: Basal epidermolysis bullosa simplexDermatologicalRetired termView → OBSOLETE: Basement membrane diseaseRetired termView → OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutationRetired termView → OBSOLETE: Benign essential blepharospasmRetired termView → OBSOLETE: Benign exophthalmos syndromeOphthalmologicalRetired termView → OBSOLETE: Benign infantile seizures associated with mild gastroenteritisNeurologicalRetired termView → OBSOLETE: Benign tumor of palpebral epidermisRetired termView → OBSOLETE: Binswanger diseaseRetired termView → OBSOLETE: Blaichman syndromeRetired termView → OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndromeRetired termView → OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndromeRetired termView → OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variationsRetired termView → OBSOLETE: Blepharophimosis-radioulnar synostosis syndromeRetired termView → OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndromeRetired termView → OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvementRetired termView → OBSOLETE: Bone dysplasia, Azouz typeRetired termView → OBSOLETE: Borderline epithelial tumor of ovaryRetired termView → OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndromeRetired termView → OBSOLETE: BrachydactylyRetired termView → OBSOLETE: Brachydactyly groupRetired termView → OBSOLETE: Brachydactyly of fingersRetired termView → OBSOLETE: Brachydactyly of fingers, bilateralRetired termView → OBSOLETE: Brachydactyly of fingers, unilateralRetired termView → OBSOLETE: Brachydactyly of toesRetired termView → OBSOLETE: Brachydactyly of toes, bilateralRetired termView → OBSOLETE: Brachydactyly of toes, unilateralRetired termView → OBSOLETE: Brain stem tumorRetired termView → OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipomaRetired termView → OBSOLETE: Bullous systemic lupus erythematosusRetired termView →