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

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



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.

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• Biphenotypic acute leukemia - See Acute leukemia of ambiguous lineage
• Bipolar affective disorder - See Bipolar disorder - not a rare disease
• Bipolar disorder - not a rare disease
• Bipolar illness - See Bipolar disorder - not a rare disease
• Bird-headed dwarfism - See Seckel syndrome
• Bird-headed dwarfism microcephaly micrognathia - See Seckel like syndrome Majoor-Krakauer type
• Bird-headed dwarfism with features of premature senility - See Microcephalic primordial dwarfism, Montreal type
• Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency - SeeBangstad syndrome
• Birdshot chorioretinitis - See Birdshot chorioretinopathy
• Birdshot chorioretinopathy
• Birdshot retinochoroiditis - See Birdshot chorioretinopathy
• Birdshot retinochoroidopathy - See Birdshot chorioretinopathy
• Birk Barel mental retardation dysmorphism syndrome - See Birk-Barel syndrome
• Birk-Barel syndrome
• Birt Hogg Dube syndrome - See Birt-Hogg-Dube syndrome
• Birt-Hogg-Dube syndrome
• Bitemporal aplasia cutis congenita - See Focal facial dermal dysplasia
• Bitemporal forceps marks syndrome - See Facial ectodermal dysplasia
• Bixler Christian Gorlin syndrome
• Bizzare parosteal osteochondromatous proliferation
• Bjornstad syndrome
• BJS - See Bjornstad syndrome
• B-K mole syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• BK virus nephropathy - See BK-virus nephropathy
• BKN - See BK-virus nephropathy
• BK-virus nephropathy
• BL - See Burkitt lymphoma
• Black Baine - See Anthrax
• Black hairy tongue - not a rare disease
• Black lung disease - See Coal worker's pneumoconiosis
• Blackfan Diamond syndrome - See Diamond-Blackfan anemia
• Blackfan-Diamond anemia - See Diamond-Blackfan anemia
• Bladder cancer - not a rare disease
• Bladder cancer childhood - See Bladder cancer, childhood
• Bladder cancer, childhood
• Bladder carcinoma, childhood - See Bladder cancer, childhood
• Bladder exstrophy - See Exstrophy of the bladder
• Bladder exstrophy-epispadias-cloacal extrophy complex - See Exstrophy-epispadias complex
• Bladder pain syndrome - See Interstitial cystitis - not a rare disease
• Blaschkoid lichen planus - See Linear lichen planus
• Blaschkoid LP - See Linear lichen planus
• Blastic NK-cell lymphoma - See Blastic plasmacytoid dendritic cell
• Blastic plasmacytoid dendritic cell
• Blastic plasmacytoid dendritic cell neoplasm - See Blastic plasmacytoid dendritic cell
• Blastomycosis
• Blau syndrome
• BLC-PMG - See Congenital intrauterine infection-like syndrome
• BLCPMG - See Congenital intrauterine infection-like syndrome
• Bleeding diathesis due to a collagen receptor defect - See Glycoprotein VI deficiency
• Bleeding diathesis due to glycoprotein VI deficiency - See Glycoprotein VI deficiency
• Bleeding disorder due to ADP platelet receptor P2Y12 defect - See Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to P2RX1 defect, somatic - See Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to P2Y12 defect - See Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to primary defects in platelet release mechanism - See Primary release disorder of platelets
• Bleeding disorder, platelet-type 8 - See Bleeding disorder due to P2RY12 defect
• Blepharo naso facial syndrome Van maldergem type
• Blepharochalasis - double lip - See Ascher Syndrome
• Blepharochalasis and double lip - See Ascher Syndrome
• Blepharochalasis-double lip syndrome - See Ascher Syndrome
• Blepharocheilodontic syndrome - See Ectropion inferior cleft lip and or palate
• Blepharo-cheilo-dontic syndrome - See Ectropion inferior cleft lip and or palate
• Blepharofacioskeletal syndrome - See Hypotelorism cleft palate hypospadias
• Blepharonasofacial malformation syndrome
• Blepharophimosis
• Blepharophimosis - ptosis - esotropia - syndactyly - short stature - See Blepharophimosis with ptosis, syndactyly, and short stature
• Blepharophimosis intellectual disability syndromes
• Blepharophimosis mental retardation syndromes - See Blepharophimosis intellectual disability syndromes
• Blepharophimosis radioulnar synostosis - See Jorgenson Lenz syndrome
• Blepharophimosis syndrome Ohdo type - See Blepharophimosis intellectual disability syndromes
• Blepharophimosis syndrome type 1 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
• Blepharophimosis syndrome type 2 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
• Blepharophimosis with ptosis, syndactyly, and short stature
• Blepharophimosis, arachnodactyly, and congenital contractures - See Marden Walker like syndrome
• Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
• Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
• Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
• Blepharophimosis, ptosis, epicanthus inversus with ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
• Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly) - See Saethre-Chotzen syndrome
• Blepharophimosis-intellectual disability syndrome - See Blepharophimosis intellectual disability syndromes
• Blepharoptosis myopia ectopia lentis
• Blepharospasm - See Benign essential blepharospasm
• Blepharospasm - oromandibular dystonia - See Meige syndrome
• Blepharospasm-oromandibular dystonia - See Meige syndrome
• Blepharospasm-oromandibular dystonia syndrome - See Meige syndrome
• BLM - See Bloom syndrome
• Bloch-Sulzberger syndrome - See Incontinentia pigmenti
• Blomstrand lethal osteochondrodysplasia - See Chondrodysplasia Blomstrand type
• Blomstrand's lethal chondrodysplasia - See Chondrodysplasia Blomstrand type
• Blood fluke - See Schistosomiasis
• Bloom syndrome
• Bloom-Torre-Machacek syndrome - See Bloom syndrome
• Blount disease
• Blount-Barber syndrome - See Blount disease
• Blount's disease - See Blount disease
• BLS - See Bloom syndrome
• BLS 2 - See Bare lymphocyte syndrome 2
• BLS type 1 - See Bare lymphocyte syndrome
• BLT syndrome - See Brain-lung-thyroid syndrome
• Blue baby syndrome - See Methemoglobinemia, beta-globin type
• Blue cone monochromatism
• Blue diaper syndrome
• Blue neuronevus - See Tièche-Jadassohn nevus
• Blue nevus - See Tièche-Jadassohn nevus
• Blue rubber bleb nevus - See Blue rubber bleb nevus syndrome
• Blue rubber bleb nevus syndrome
• BMFS - See Inherited bone marrow failure syndromes - not a rare disease
• BMPM - See Benign multicystic peritoneal mesothelioma
• BMRS - See Blepharophimosis intellectual disability syndromes
• BMS - See Burning mouth syndrome - not a rare disease
• BNAR syndrome - See Bifid nose with or without anorectal and renal anomalies
• BO syndrome 1 - See Branchiootic syndrome
• Bobble head doll syndrome - See Bobble-head doll syndrome
• Bobble-head doll syndrome
• BOCD - See Chondrodysplasia Blomstrand type
• Bockenheimer syndrome - See Genuine diffuse phlebectasia
• BOD syndrome
• Boder syndrome - See Odontoma dysphagia syndrome
• Body stalk anomaly - See Limb-body wall complex
• BOE - See Epilepsy, benign occipital
• Boerhaave syndrome
• Boerhaave's syndrome - See Boerhaave syndrome
• 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