Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program B/3

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program





B/3



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• Boerhave syndrome - See Boerhaave syndrome
• BOFS syndrome - See Branchiooculofacial syndrome
• Bohring syndrome - See Bohring-Opitz 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 - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
• Bone dysplasia with medullary fibrosarcoma - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
• Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features - See Cole Carpenter syndrome
• Bone marrow necrosis - not a rare disease
• Bonneau-Beaumont syndrome - See Hyperferritinemia cataract syndrome
• Bonnemann Meinecke Reich syndrome - See Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
• Bonnemann Meinecke syndrome - See Porencephaly cerebellar hypoplasia internal malformations
• Bonnet-Decaume-Blanc syndrome - See Wyburn-Mason syndrome
• Bonnevie-Ulrich syndrome - See Turner syndrome
• Book syndrome
• Boomerang dysplasia
• Boomerang-like skeletal dysplasia - See Boomerang dysplasia
• BOOP - See Bronchiolitis obliterans organizing pneumonia
• Booth-Haworth-Dilling syndrome - See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• BOR syndrome - See Branchiootorenal syndrome
• Bordetella pertussis infection - See Whooping cough
• BOR-Duane hydrocephalus contiguous gene syndrome
• BORJ - See Borjeson-Forssman-Lehmann syndrome
• Borjeson Syndrome - See Borjeson-Forssman-Lehmann syndrome
• Borjeson-Forssman-Lehmann syndrome
• Bork Stender Schmidt syndrome
• Bork syndrome - See Bork Stender Schmidt syndrome
• Borreliosis - See Lyme disease - not a rare disease
• Borrone dermatocardioskeletal syndrome - See Borrone Di Rocco Crovato syndrome
• Borrone Di Rocco Crovato syndrome
• BOS - See Buschke Ollendorff syndrome
• BOS syndrome - See Bohring-Opitz syndrome
• BOS1 - See Branchiootic syndrome
• Bosley Salih Alorainy syndrome - See Athabaskan brainstem dysgenesis
• Bosma arhinia microphthalmia syndrome - See Arhinia choanal atresia microphthalmia
• Bosma Henkin Christiansen syndrome - See Arhinia choanal atresia microphthalmia
• Bothriocephalosis
• Botryoid rhabdomyosarcoma (type of ERMS) - See Rhabdomyosarcoma embryonal
• Botulism
• Boucher-Neuhäuser syndrome - See Ataxia - hypogonadism - choroidal dystrophy
• Boudhina Yedes Khiari syndrome
• Bourneville syndrome
• Bourneville's syndrome - See Bourneville syndrome
• Bouwes Bavinck Weaver Ellis syndrome - See Mental retardation short stature microcephaly eye
• Bow hunter's stroke
• Bow hunter's syndrome - See Bow hunter's stroke
• Bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay - See Chitty Hall Webb syndrome
• Bowen Hutterite syndrome (formerly) - See Bowen-Conradi syndrome
• Bowen-Conradi Hutterite syndrome - See Bowen-Conradi 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 - See Fuhrmann syndrome
• Bowing, congenital, with short bones - See Kyphomelic dysplasia
• Boylan Dew Greco syndrome
• BP - See Bowenoid papulosis
• BPAN - See Beta-Propeller Protein-Associated Neurodegeneration
• BPD - See Bronchopulmonary dysplasia
• BPDCN - See Blastic plasmacytoid dendritic cell
• BPES type 1 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
• BPES type 2 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
• BPES with premature ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
• BPES without premature ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
• BPNH - See X-linked periventricular heterotopia
• BPOP - See Bizzare parosteal osteochondromatous proliferation
• BPPV - See Benign paroxysmal positional vertigo
• BPS - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Brachial amelia, cleft lip, and holoprosencephaly
• Brachial amelia, forebrain defects and facial clefts
• Brachial plexus neuropathy, hereditary - See Hereditary neuralgic amyotrophy
• Brachioskeletogenital syndrome
• Brachmann de Lange syndrome - See Cornelia de Lange syndrome
• Brachycephalofrontonasal dysplasia
• Brachycephaly, deafness, cataract and mental retardation - See Fine-Lubinsky syndrome
• Brachydactylous dwarfism Mseleni type
• Brachydactylous dwarfs of Mseleni - See Brachydactylous dwarfism Mseleni type
• Brachydactyly - not a rare disease
• Brachydactyly - nystagmus - cerebellar ataxia - See Biemond syndrome
• Brachydactyly absence of distal phalanges
• Brachydactyly and intraventricular conduction defect - See Heart-hand syndrome, Spanish type
• Brachydactyly anonychia
• Brachydactyly Ballard type - See Brachydactyly types B and E combined
• Brachydactyly combined B and E types - See Brachydactyly types B and E combined
• Brachydactyly elbow wrist dysplasia
• Brachydactyly Farabee type - See Brachydactyly type A1
• Brachydactyly Haws type - See Brachydactyly type C
• Brachydactyly long thumb type
• Brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face - SeeBrachydactyly-mesomelia-intellectual disability-heart defects syndrome
• Brachydactyly Mononen type
• Brachydactyly of the hands and feet with duplication of the first toes - See Sugarman brachydactyly
• Brachydactyly preaxial with hallux varus and thumb abduction
• Brachydactyly small stature face anomalies
• Brachydactyly Smorgasbord type - See Brachydactyly type A7
• Brachydactyly Temtamy type - See Brachydactyly type A4
• Brachydactyly tibial hypoplasia
• Brachydactyly type A1
• Brachydactyly type A2
• Brachydactyly type A3
• Brachydactyly type A4
• Brachydactyly type A5
• Brachydactyly type A5 nail dysplasia - See Brachydactyly type A5
• Brachydactyly type A6
• Brachydactyly type A7
• Brachydactyly type B
• Brachydactyly type C
• Brachydactyly type E
• Brachydactyly type E with short stature and hypertension - See Brachydactyly with hypertension
• Brachydactyly types B and E combined
• Brachydactyly with absence of middle phalanges and hypoplastic nails - See Brachydactyly type A5
• Brachydactyly with hypertension
• brachydactyly with joint dysplasia - See Brachydactyly elbow wrist dysplasia
• Brachydactyly with major proximal phalangeal shortening - See Sugarman brachydactyly
• Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys - See Acro-pectoro-renal field defect
• Brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle - See Cleidorhizomelic syndrome
• Brachydactyly, nystagmus and cerebellar ataxia - See Biemond syndrome
• Brachydactyly-clinodactyly - See Brachydactyly type A3
• Brachydactyly-distal symphalangism syndrome - See Sillence syndrome
• Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia - See Fibular aplasia ectrodactyly
• Brachydactyly-Intellectual disability syndrome - See 2q37 deletion syndrome
• Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
• Brachydactyly-nystagmus-cerebellar ataxia syndrome - See Biemond syndrome
• Brachydactyly-scoliosis-carpal fusion syndrome - See Acrodysplasia scoliosis
• Brachymelic primordial dwarfism - See Microcephalic osteodysplastic primordial dwarfism type 1
• Brachymesomelia renal syndrome
• Brachymesomelia-renal syndrome - See Langer Nishino Yamaguchi syndrome
• Brachymesophalangy 2 - See Brachydactyly type A2
• Brachymesophalangy 5 - See Brachydactyly type A3
• Brachymesophalangy II and V - See Brachydactyly type A4
• Brachymesophalangy type 2
• Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities - See Brachydactyly type A6
• Brachymetapody anodontia hypotrichosis albinoidism
• Brachymorphism onychodysplasia dysphalangism syndrome - See BOD syndrome
• Brachymorphism-onychodysplasia-dysphalangism syndrome - See BOD syndrome
• Brachyolmia
• Brachyolmia autosomal dominant - See Brachyolmia type 3
• Brachyolmia Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
• Brachyolmia type 2 - See Spondyloepiphyseal dysplasia Maroteaux type
• Brachyolmia type 3
• Brachyphalangy, polydactyly and absent tibiae - See Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
• Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
• Brachyrachia - See Brachyolmia type 3
• Bradbury Eggleston syndrome - See Pure autonomic failure
• Bradbury-Eggleston syndrome - See Pure autonomic failure
• Braddock Carey syndrome - See Thrombocytopenia Robin sequence
• Braddock Jones Superneau syndrome
• Braddock-Jones-Superneau syndrome - See Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Bradyopsia
• Bradyopsia - See Bradyopsia
• Brain dopamine-serotonin vesicular transport disease
• Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - See ZTTK syndrome
• Brain stem cancer
• Brain tumor, adult
• Brain tumor, childhood
• BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL - See Rhabdoid tumor
• Brain tumor-polyposis syndrome - See Turcot syndrome
• Brain-bone-fat disease - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Brain-lung-thyroid syndrome
• Brainstem auditory evoked responses - not a rare disease
• Brainstem migraine - See Migraine with brainstem aura
• Branched chain ketoaciduria - See Maple syrup urine disease
• Branched-chain alpha-keto acid dehydrogenase deficiency - See Maple syrup urine disease
• Brancher deficiency - See Glycogen storage disease type 4
• Branchial arch defects
• Branchial arch syndrome X-linked
• Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging - SeeBranchiooculofacial syndrome
• Branchial dysplasia clubfoot inguinal hernia and biliary atresia - See Lambert syndrome
• Branchio oto renal syndrome - See Branchiootorenal syndrome
• Branchiooculofacial syndrome
• Branchiootic dysplasia - See Branchiootic syndrome
• Branchiootic syndrome
• Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome - See BOR-Duane hydrocephalus contiguous gene syndrome
• Branchiootorenal dysplasia - See Branchiootorenal syndrome
• Branchiootorenal syndrome
• Branchioskeletogenital syndrome - See Brachioskeletogenital syndrome
• Branchio-skeleto-genital syndrome - See Brachioskeletogenital syndrome
• Brandt syndrome - See Acrodermatitis enteropathica
• Brandywine type dentinogenesis imperfecta - See Dentinogenesis imperfecta type 3
• Brauer syndrome - See Focal facial dermal dysplasia
• Brauer-Buschke-Fischer syndrome - See Punctate palmoplantar keratoderma type I
• Brazilian achondrogenesis - See Chondrodysplasia, Grebe type
• Brazilian pemphigus - See Pemphigus and fogo selvagem
• Brazilian pemphigus foliaceus - See Pemphigus and fogo selvagem
• BRBNS - See Blue rubber bleb nevus syndrome
• BRCA1 hereditary breast and ovarian cancer syndrome
• BRCA2 hereditary breast and ovarian cancer syndrome
• Breast angiosarcoma - See Angiosarcoma of the breast
• Breast cancer in men - See Breast cancer, male
• Breast cancer, childhood
• Breast cancer, familial - See Familial breast cancer - not a rare disease
• Breast cancer, inflammatory - See Inflammatory breast cancer
• Breast cancer, male
• Brenner tumor of ovary
• Brenner tumor of the vagina
• Bri amyloidosis - See Dementia familial British
• BRIC - See Benign recurrent intrahepatic cholestasis
• BRIC1 - See Benign recurrent intrahepatic cholestasis 1
• BRIC2 - See Benign recurrent intrahepatic cholestasis 2
• Bright's disease - See Glomerulonephritis
• Brill-Zinsser disease - See Typhus
• Brittle bone disease - See Osteogenesis imperfecta
• Brittle bone syndrome lethal type
• Brittle cornea syndrome
• Brittle diabetes
• Brittle diabetes mellitus - See Brittle diabetes
• Brittle hair and mental deficit - See Trichothiodystrophy
• Brittle type 1 diabetes - See Brittle diabetes
• BRKS1 - See Bruck syndrome 1
• BRKS2 - See Bruck syndrome 2
• Broad beta disease - See Hyperlipidemia type 3
• Broad gyri of cerebrum - See Pachygyria
• Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses - See Rubinstein Taybi like syndrome
• Broad thumb-hallux syndrome - See Rubinstein-Taybi syndrome
• Broad thumbs and great toes, characteristic facies, and mental retardation - See Rubinstein-Taybi syndrome
• Broad-betalipoproteinemia - See Hyperlipidemia type 3
• Brocq pseudopelade - See Pseudopelade of Brocq
• Brocq-Duhring disease - See Dermatitis herpetiformis
• Brodie Chole Griffin syndrome - See Macrothrombocytopenia progressive deafness
• Brody disease - See Brody myopathy
• Brody myopathy
• Broken heart syndrome
• Broken-heart syndrome - See Broken heart syndrome
• Bronchial adenomas/carcinoids childhood
• Bronchial carcinoids - See Bronchial adenomas/carcinoids childhood
• Bronchiectasis oligospermia
• Bronchiolitis obliterans
• Bronchiolitis obliterans organizing pneumonia
• Bronchogenic cyst
• Bronchopulmonary dysplasia
• Brooke-Fordyce trichoepitheliomas - See Multiple familial trichoepithelioma
• Brooke-Spiegler syndrome
• Brooks Wisniewski Brown syndrome
• BROVCA1 - See BRCA1 hereditary breast and ovarian cancer syndrome
• BROVCA2 - See BRCA2 hereditary breast and ovarian cancer syndrome
• Brown syndrome
• Brown-Sequard syndrome
• Brown-Vialetto-van Laere syndrome - See Riboflavin transporter deficiency
• Brown-Vialetto-Van Laere syndrome 2
• BRRS - See Bannayan-Riley-Ruvalcaba syndrome
• BRSS - See Brooke-Spiegler syndrome
• Bruce Winship syndrome - See Radial defect Robin sequence
• Brucellosis
• Bruck syndrome 1
• Bruck syndrome 2
• Brueghel syndrome - See Meige syndrome
• Brugada syndrome
• Brugada syndrome 3
• Brugada syndrome 4
• Brunner syndrome - See Monoamine oxidase A deficiency
• Brunner-Winter syndrome - See Feingold syndrome
• Brunsting Perry syndrome - See Brunsting-Perry syndrome
• Brunsting-Perry syndrome
• Brunzell syndrome - See Congenital generalized lipodystrophy
• Bruton type agammaglobulinemia - See X-linked agammaglobulinemia
• Bruton's agammaglobulinemia - See X-linked agammaglobulinemia
• Bruyn Scheltens syndrome
• BRWS - See Baraitser-Winter syndrome
• BS - See Bloom syndrome
• BS2 - See Biemond syndrome 2
• BSAS - See Athabaskan brainstem dysgenesis
• BSCL - See Congenital generalized lipodystrophy
• BSCL1 - See Congenital generalized lipodystrophy type 1
• BSCL2-Related Brunzell syndrome - See Congenital generalized lipodystrophy type 2
• BSCR - See Birdshot chorioretinopathy
• BSG syndrome - See Brachioskeletogenital syndrome
• BSND - See Bartter syndrome type 4
• BSPDC - See Primary Familial Brain Calcification
• BSS - See Giant platelet syndrome
• BTD deficiency - See Biotinidase deficiency
• BTHS - See Barth syndrome
• BTK-deficiency - See X-linked agammaglobulinemia
• Bubonic plague
• BUD - See Buruli ulcer
• Budd-Chiari syndrome
• Buerger disease
• Buerger's disease - See Buerger disease
• Bulbospinal muscular atrophy - See Kennedy disease
• Bull teeth - See Taurodontism
• Bulldog syndrome - See Simpson-Golabi-Behmel syndrome
• Bull-Nixon syndrome - See Primary basilar impression
• Bullous acrokeratotic poikiloderma of kindler and weary - See Kindler syndrome
• Bullous cellulitis with eosinophilia - See Wells syndrome
• Bullous congenital ichthyosiform erythroderma - See Epidermolytic ichthyosis
• Bullous dystrophy hereditary macular type
• Bullous erythroderma ichthyosiformis congenita of Brocq - See Epidermolytic ichthyosis
• Bullous ichthyosiform erythroderma - See Epidermolytic ichthyosis
• Bullous ichthyosiform erythroderma congenita - See Epidermolytic ichthyosis
• Bullous papular urticaria - type - See Papular urticaria
• Bullous pemphigoid
• Bullous type of ichthyosis - See Ichthyosis bullosa of Siemens
• Burger-Grutz syndrome - See Familial lipoprotein lipase deficiency
• Burkholderia mallei - See Glanders
• Burkholderia mallei infection - See Glanders
• Burkholderia pseudomallei infection - See Melioidosis
• Burkitt lymphoma
• Burkitt's lymphoma - See Burkitt lymphoma
• Burn Goodship syndrome
• Burnett Schwartz Berberian syndrome
• Burning mouth disorder - See Burning mouth syndrome - not a rare disease
• Burning mouth syndrome - not a rare disease
• Burn-McKeown syndrome - See Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
• Burton skeletal dysplasia - See Schwartz Jampel syndrome
• Burton syndrome - See Kniest-like dysplasia with pursed lips and ectopia lentis
• Burton syndrome - See Schwartz Jampel syndrome
• Buruli ulcer
• Buruli ulcer disease - See Buruli ulcer
• Buschke Lowenstein tumor
• Buschke Ollendorff syndrome
• Buschke's scleredema - See Scleredema
• Bustos Simosa Pinto Cisternas syndrome
• Butterfly dystrophy of retinal pigment epithelium - See Patterned dystrophy of retinal pigment epithelium
• Butterfly-shaped pigment dystrophy of the fovea - See Patterned dystrophy of retinal pigment epithelium
• Buttiens Fryns syndrome - See Limb deficiencies distal with micrognathia
• Butyrylcholinesterase deficiency - See Pseudocholinesterase deficiency
• BVMD - See Best vitelliform macular dystrophy
• BVVLS - See Riboflavin transporter deficiency
• BWCNS - See Bowen-Conradi syndrome
• BXL4-Related Early-Onset Mitochondrial Encephalopathy - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• Byler disease - See Progressive familial intrahepatic cholestasis 1
• Byler's disease - See Progressive familial intrahepatic cholestasis 1
• Byssinosis
• BZS - See Bannayan-Riley-Ruvalcaba syndrome
• BZX - See Bazex-Dupre-Christol syndrome