List of Rare Diseases

B

B3GALT6-related spEDS
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
Bahemuka-Brown syndrome
Bainbridge-Roppers syndrome
Baird syndrome
Bakrania-Ragge syndrome
Balantidiasis
Balantidiosis
Balikova-Vermeesch syndrome
Balint-Holmes syndrome
Balint syndrome
B-ALL
Ballard syndrome
Baller-Gerold syndrome
Ballooning cardiomyopathy
Baló concentric sclerosis
Bamboo hair syndrome
Bamforth-Lazarus syndrome
Bamforth syndrome
Band-shaped and whorled microcystic dystrophy of the corneal epithelium
Bangstad syndrome
Bangungut
Banki syndrome
Bannayan-Riley-Ruvalcaba syndrome
Bantu siderosis
BAP1-related tumor predisposition syndrome
Baraitser-Brett-Piesowicz syndrome
Baraitser-Burn syndrome
Baraitser-Reardon syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Barakat syndrome
Barber-Say syndrome
Bardet-Biedl syndrome
Bare lymphocyte syndrome type 1
Bare lymphocyte syndrome type 2
Barnes syndrome
Baroreflex failure
Barraquer-Simons syndrome
Barth syndrome
Bartonellosis due to Bartonella bacilliformis infection
Bartonellosis due to Bartonella henselae infection
Bartonellosis due to Bartonella quintana infection
Bart-Pumphrey syndrome
Bartsocas-Papas syndrome
Bartter syndrome
Bartter syndrome, furosemide-amiloride type
Bartter syndrome, furosemide type
Bartter syndrome type 3
Bartter syndrome type 4
Bartter syndrome type 5
Bartter syndrome type III
Bartter syndrome type IV
Bartter syndrome type V
Bartter syndrome with hypocalcemia
Basal cell carcinoma of vulva
Basal cell nevus syndrome
Basal encephalocele
Basal epidermolysis bullosa simplex
Basan-Baird syndrome
BASD
BASD1
BASD2
BASD3
BASD4
Basel-Vanagaite-Sirota syndrome
Basement membrane disease
BASM syndrome
Bassen-Kornzweig disease
Bassoe syndrome
Bathing suit ichthyosis
Battaglia-Neri syndrome
Batten disease
Baughman syndrome
Bazex-Dupré-Christol syndrome
Bazex syndrome
BBGD
BBIS
BBS
BBSOAS
BCD
BCD syndrome
B-cell chronic lymphocytic leukemia
B-cell chronic lymphoid leukemia
B-cell expansion with NF-kB and T-cell anergy disease
B-cell NHL
B-cell non-Hodgkin lymphoma
B-cell prolymphocytic leukemia
BCIE
BCKD deficiency
BCKDH deficiency
B-CLL
BDC
BDCS
Beals-Hecht syndrome
Beals syndrome
Bean syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes syndrome
Becker dystrophinopathy
Becker muscular dystrophy
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
Behavioral variant of frontotemporal dementia
Behçet disease
Behçet-like disease due to HA20
Behçet-like disease due to haploinsufficiency of A20
Behrens-Baumann-Vogel syndrome
Bellini carcinoma
Bellini duct carcinoma
Bellini syndrome
Benallegue-Lacete syndrome
Bencze syndrome
Benign adult familial myoclonic epilepsy
Benign adult familial myoclonus epilepsy
Benign autosomal dominant myopathy
Benign cephalic histiocytosis
Benign childhood occipital epilepsy, Gastaut type
Benign childhood occipital epilepsy, Panayiotopoulos type
Benign chronic familial pemphigus of Hailey-Hailey
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 mesial temporal lobe epilepsy
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal-infantile seizures
Benign familial neonatal seizures
Benign FMTLE
Benign focal amyotrophy
Benign focal seizures of adolescence
Benign hereditary chorea
Benign hyperferritinemia
Benign idiopathic neonatal seizures
Benign infantile focal epilepsy with midline spikes and waves during sleep
Benign infantile seizures associated with mild gastroenteritis
Benign intracranial hypertension
Benign metanephric tumour
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 non-familial infantile seizures
Benign nonfamilial neonatal seizures
Benign occipital epilepsy
Benign paroxysmal peritonitis
Benign paroxysmal tonic upgaze of childhood with ataxia
Benign paroxysmal torticollis of infancy
Benign partial epilepsy of infancy with complex partial seizures
Benign partial epilepsy with secondarily generalized seizures in 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
Bennion-Patterson syndrome
Benson syndrome
BENTA disease
Bent bone dysplasia
Beradinelli-Seip syndrome
Berant syndrome
Berardinelli-Seip congenital lipodystrophy
Berdon syndrome
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
Beta2-microglobulinic amyloidosis
Beta3GalT6-deficient EDS
Beta-alanine synthase deficiency
Beta-D-galactosidase deficiency
Beta-galactosidase-1 deficiency
Beta-glucuronidase deficiency
Beta-ketothiolase deficiency
Beta-mannosidase deficiency
Beta-mannosidosis
Beta-mercaptolactate cysteine disulfiduria
Beta-propeller protein-associated neurodegeneration
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
Bethlem myopathy
Beukes familial hip dysplasia
BFHD
BFIE
BFIS
BFLS
BFNIS
BFNS
BH4-responsive HPA/PKU
BH4-responsive hyperphenylalaninemia/phenylketonuria
BHC
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
Bickel-Fanconi glycogenosis
Bickers-Adams syndrome
Bickerstaff brainstem encephalitis
Bicornuate uterus
Bidirectional 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
Bifidity of the uvula
Bifid nose
Bifid nose with or without anorectal and renal anomalies
Bifid uvula
Bifunctional enzyme deficiency
Bilateral acoustic neurofibromatosis
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 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 massive adrenal hemorrhage
Bilateral MCDK
Bilateral microtia-deafness-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-induced neurological dysfunction
Bilirubin-UGT deficiency
Bilirubin-UGT deficiency type 1
Bilirubin-UGT deficiency type 2
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Billard-Toutain-Maheut syndrome
BIMSE
BIND
Binder syndrome
Bindewald-Ulmer-Müller syndrome
BINS
Biological anomaly without phenotypic characterization
Biotinidase deficiency
Biotin-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease
Biparietal Alzheimer disease
Bipartite talus
Bird fancier lung
Bird-headed dwarfism, Montreal type
Birdshot chorioretinitis
Birdshot chorioretinopathy
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Birt-Hogg-Dubé syndrome
Bitemporal aplasia cutis congenita
Bixler-Christian-Gorlin syndrome
Björnstad syndrome
B-K mole syndrome
Blackfan-Diamond anemia
Bladder exstrophy
Bladder exstrophy-epispadias-cloacal extrophy complex
Bladder pain syndrome
Blake pouch cyst
Blaschkoid lichen planus
Blaschkoid LP
Blastic NK-cell lymphoma
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
Blepharochalasis-double lip syndrome
Blepharocheilodontic syndrome
Blepharo-cheilo-odontic syndrome
Blepharonasofacial malformation syndrome
Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
Blepharophimosis-epicanthus inversus-ptosis due to a CNV
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Blepharophimosis-epicanthus inversus-ptosis syndrome
Blepharophimosis-intellectual disability syndrome
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 type V
Blepharophimosis-intellectual disability syndrome, Verloes type
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Blepharophimosis syndrome, Ohdo type
Blepharophimosis-telecanthus-microstomia syndrome
Blepharophimosis types 1 and 2
Blepharophimosis types 1 and 2 due to a point mutation
Blepharophimosis types 1 and 2 due to copy number variations
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
Blue colour blindness
Blue cone monochromacy
Blue cone monochromatism
Blue diaper syndrome
Blue-dot cataract
Blue rubber bleb nevus
BMAH
BMD
BMD
BMRS
BMRS, Maat-Kievit-Brunner type
BMRS, MKB type
BMRS, Ohdo type
BMRS type V
BMRS, Verloes type
BMS
BNAR syndrome
BOCD
Bockenheimer syndrome
Boder syndrome
BOD syndrome
Body cavity-based lymphoma
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Boeck sarcoid
Boeck’s sarcoid
BOFS
Bohring-Opitz syndrome
Bohring 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-craniosynostosis-proptosis-hydrocephalus syndrome
Bone necrosis
Bone necrosis of genetic origin
Bone sarcoma
Bonneau-Beaumont syndrome
Bonneau syndrome
Bonnemann-Meinecke-Reich syndrome
Bonnemann-Meinecke syndrome
Bonnet-Dechaume-Blanc syndrome
Böök syndrome
Boomerang dysplasia
BOOP
Booth-Haworth-Dilling syndrome
Borderline epithelial tumor of ovary
Borderline ovarian epithelial tumor
Borjeson-Forssman-Lehmann syndrome
Bork syndrome
Bornholm eye disease
Borrmann gastric cancer type 4
BOR syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bosley-Salih-Alorainy syndrome
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
BOS syndrome
Bothnia retinal dystrophy
Bothriocephalosis
Botulism
Boucher-Neuhäuser syndrome
Bourneville syndrome
Boutonneuse fever
Bowen-Conradi syndrome
Bowen syndrome, Hutterite type
Boxer’s dementia
Boyadjiev-Jabs syndrome
BPAN
BPD
BPDCN
B-PLL
BPNST
Brachial plexus neuritis
Brachmann-de Lange syndrome
Brachycephalofrontonasal dysplasia
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachydactylous dwarfism, Mseleni type
Brachydactyly-arterial hypertension syndrome
Brachydactyly, combined B and E types
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly, Farabee type
Brachydactyly-intellectual disability syndrome
Brachydactyly-joint dysplasia syndrome
Brachydactyly-long thumb syndrome
Brachydactyly, long thumb type
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachydactyly, Mohr-Wriedt type
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, Smorgasbord type
Brachydactyly-symphalangism syndrome
Brachydactyly-syndactyly, Zhao type
Brachydactyly, Temtamy type
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A4
Brachydactyly type A5
Brachydactyly type A6
Brachydactyly type A7
Brachydactyly type B
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type E
Brachydactyly type E, with short stature and hypertension
Brachymesophalangy II and V
Brachymorphism-onychodysplasia-dysphalangism syndrome
Brachyolmia
Brachyolmia-amelogenesis imperfecta syndrome
Brachyolmia, Hobaek/Toledo type
Brachyolmia, Maroteaux type
Brachyolmia type 2
Brachyolmia type 3
Brachytelephalangic chondrodysplasia punctata
Brachytelephalangy-dysmorphism-Kallmann syndrome
Bradbury-Eggleston syndrome
Braddock-Jones-Superneau syndrome
Braddock syndrome
Bradykinine-induced angioedema
Bradyopsia
Brain calcification, Rajab type
Brain cortical dysplasia
Brain demyelination due to methionine adenosyltransferase deficiency
Brain dopamine-serotonin vesicular transport disease
Brain inflammatory disease
Brain-lung-thyroid syndrome
Brain malformation
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Brain malformation due to abnormal neuronal migration
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Branched-chain 2-ketoacid dehydrogenase deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Branched-chain ketoaciduria
Branchial arch or oral-acral syndrome
Branchial dysplasia-intellectual disability-inguinal hernia syndrome
Branchiogenic deafness syndrome
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal syndrome
Branchioskeletogenital syndrome
Branch pulmonary artery stenosis
Brauer syndrome
Braun-Bayer syndrome
Brazilian hemorrhagic fever
BRBN
BRE
BRESEK syndrome
BRESHECK syndrome
BRIC
BRIC1
BRIC2
BRIC type 1
BRIC type 2
Brill disease
Brill-Zinsser disease
Brittle bone disease
Brittle cornea syndrome
Broad-beta disease
Broad thumb-hallux syndrome
Broad thumbs-halluces syndrome
Brody myopathy
Broken heart syndrome
Bronchial NET
Bronchial neuroendocrine tumor
Bronchiolitis obliterans organizing pneumonia
Bronchiolitis obliterans with obstructive pulmonary disease
Bronchogenic cyst
Bronchopulmonary dysplasia
Bronspiegel-Zelnick syndrome
Bronze John
Brooke-Spiegler syndrome
Brown-Vialetto-van Laere syndrome
BRRS
BRSS
Brucellosis
Bruck syndrome
Brugada syndrome
Brunner syndrome
Brunner-Winter syndrome
Brunner-Winter syndrome type 1
Brunner-Winter syndrome type 2
Brunzell syndrome
Bruton type agammaglobulinemia
BSCL
BSEP deficiency
BSG syndrome
BSI
BSPDC
BSyn
BTBGD
BTD deficiency
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
Burkitt lymphoma
Burning mouth syndrome
Burn-McKeown syndrome
Burton skeletal dysplasia
Burton syndrome
Buschke-Fischer-Brauer syndrome
Buschke-Ollendorff syndrome
Buschke scleredema
Butterfly-shaped pattern dystrophy
Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigment dystrophy
Buttiens-Fryns syndrome
Butyrylcholinesterase deficiency
bv-FTD
BVMD
BWS
Byler disease

No items found.