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 →