Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program B/2

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





B/2



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.

• Best macular dystrophy - See Best vitelliform macular dystrophy
• Best vitelliform macular dystrophy
• Beta galactosidase deficiency type 1 - See GM1 gangliosidosis type 1
• Beta galactosidase 1 deficiency - See GM1 gangliosidosis
• Beta ketothiolase deficiency
• Beta thalassemia intermedia - See Beta-thalassemia
• Beta thalassemia major - See Beta-thalassemia
• Beta thalassemia minor - See Beta-thalassemia
• Beta-1,4-galactosyltransferase deficiency - See B4GALT1-CDG (CDG-IId)
• Beta-2-microglobulin amyloidosis - See Amyloidosis Beta2M
• Beta-galactosidase deficiency type 3 - See GM1 gangliosidosis type 3
• Beta-galactosidase-1 deficiency
• Beta-galactosidosis - See GM1 gangliosidosis
• Beta-glucuronidase deficiency - See Mucopolysaccharidosis type VII
• Beta-hexosaminidase-beta-subunit deficiency - See Sandhoff disease
• Beta-hydroxyisobutyryl-CoA deacylase deficiency - See HIBCH deficiency
• Betalipoprotein deficiency disease - See Abetalipoproteinemia
• Beta-mannosidase deficiency - See Mannosidosis, beta A, lysosomal
• Beta-mannosidosis - See Mannosidosis, beta A, lysosomal
• Beta-mercaptolactate cysteine disulfiduria - See Ampola syndrome
• BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION - See Beta-Propeller Protein-Associated Neurodegeneration
• Beta-Propeller Protein-Associated Neurodegeneration
• Beta-sarcoglycan limb-girdle muscular dystrophy - See Limb-girdle muscular dystrophy type 2E
• Beta-sarcoglycanopathy
• Beta-thalassemia
• Bethlem myopathy
• Beukes familial hip dysplasia
• BFHD - See Beukes familial hip dysplasia
• BFIC - See Convulsions, benign familial infantile, 1
• BFIC1 - See Convulsions, benign familial infantile, 1
• BFIS1 - See Convulsions, benign familial infantile, 1
• BFLS - See Borjeson-Forssman-Lehmann syndrome
• BFNC/Myokymia syndrome - See Myokymia with neonatal epilepsy
• BFNIS - See Benign familial neonatal-infantile seizures
• BFNS - See Benign familial neonatal epilepsy
• BFPP - See Bilateral frontoparietal polymicrogyria
• BGMR - See Early-onset parkinsonism-intellectual disability syndrome
• BGS - See Baller-Gerold syndrome
• BH4 deficiency - See Tetrahydrobiopterin deficiency
• BHD - See Birt-Hogg-Dube syndrome
• BHD syndrome - See Birt-Hogg-Dube syndrome
• BHDS - See Bobble-head doll syndrome
• Bicarbonate-wasting RTA - See Renal tubular acidosis, distal, type 3
• Bickerstaff migraine - See Migraine with brainstem aura
• Bidirectional tachycardia
• Bidirectional tachycardia induced by catecholamine - See Catecholaminergic polymorphic ventricular tachycardia
• Bidirectional ventricular tachycardia - See Bidirectional tachycardia
• Biedl-Bardet Syndrome - See Bardet-Biedl syndrome
• Biemond ataxia - See Posterior column ataxia
• Biemond syndrome
• Biemond syndrome 2
• Biemond syndrome type 1
• Bier spots
• Biermer anemia - See Pernicious anemia - not a rare disease
• Biermer's disease - See Pernicious anemia - not a rare disease
• Bietti crystalline corneoretinal dystrophy
• Bietti tapetoretinal degeneration with marginal corneal dystrophy - See Bietti crystalline corneoretinal dystrophy
• Bifid cranium - See Encephalocele
• Bifid nose
• Bifid nose with or without anorectal and renal anomalies
• Bifid tongue - See Cleft tongue
• Bifunctional enzyme deficiency - See D-bifunctional protein deficiency
• Bifurcation of distal humerus with oligoectro-syndactyly - See Gollop Coates syndrome
• Bilateral absence of the tibia - See Absence of Tibia
• Bilateral acoustic neurofibromatosis - See Neurofibromatosis type 2
• Bilateral anophthalmia, esophageal atresia, and right cryptorchidism - See Arroyo Garcia Cimadevilla syndrome
• Bilateral anorchia - See Anorchia
• Bilateral band-like calcification with polymicrogyria - See Congenital intrauterine infection-like syndrome
• Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele - See Brachial amelia, forebrain defects and facial clefts
• Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy - See Spastic paraplegia 9
• Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance - See Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
• Bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch - See Cryptomicrotia brachydactyly syndrome
• Bilateral frontal polymicrogyria
• Bilateral frontoparietal polymicrogyria
• Bilateral generalised polymicrogyria - See Bilateral generalized polymicrogyria
• Bilateral generalized polymicrogyria
• Bilateral Kienbock's disease - See Kienbock's disease
• Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma - See Ghose Sachdev Kumar syndrome
• Bilateral occipital calcifications with epilepsy - See Epilepsy occipital calcifications
• Bilateral parasagittal parieto-occipital polymicrogyria
• Bilateral perisylvian polymicrogyria
• Bilateral periventricular nodular heterotopia - See X-linked periventricular heterotopia
• Bilateral radial aplasia with Wilms tumor - See Wilms tumor and radial bilateral aplasia
• Bilateral radial defects club foot deformity micrognathia and cleft palate - See Radial defect Robin sequence
• Bilateral renal agenesis dominant type
• Bilateral right-sidedness sequence - See Ivemark syndrome
• Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects - See Deafness enamel hypoplasia nail defects
• Bilateral striopallidodentate calcinosis - See Primary Familial Brain Calcification
• Bilateral striopallidodentate calcinosis childhood-onset - See Idiopathic basal ganglia calcification childhood-onset
• Bilateral temporal lobe disorder - See Kluver Bucy syndrome
• Bilateral trigger thumb (type) - See Trigger thumb
• Bilateral ulnar hypoplasia and mental retardation - See Ulna hypoplasia-intellectual disability syndrome
• Bilateral Wilms tumor - See Wilms' tumor
• Bilateral, annular limbal dermoids with corneal and conjunctival extension - See Ring dermoid of cornea
• Bile acid synthesis defect, congenital, 4
• Bile duct cancer
• Bile duct cysts
• Bilginturan syndrome - See Brachydactyly with hypertension
• Bilharzia - See Schistosomiasis
• Biliary atresia
• Biliary atresia intrahepatic non syndromic form
• Biliary atresia intrahepatic syndromic form
• Biliary hypoplasia
• Biliary tract cancer
• Bilirubin encephalopathy - See Kernicterus
• Billet Bear syndrome
• Bimanual synergia - See Congenital mirror movement disorder
• Bimanual synkinesis - See Congenital mirror movement disorder
• Binder syndrome - See Maxillonasal dysplasia, Binder type
• Bindewald Ulmer Muller syndrome - See Fallot complex with severe mental and growth retardation
• Binswanger's disease
• Biodefective growth hormone - See Kowarski syndrome
• Biotin deficiency - See Biotinidase deficiency
• Biotinidase deficiency
• Biotin-responsive basal ganglia disease - See Biotin-thiamine-responsive basal ganglia disease
• Biotin-thiamine-responsive basal ganglia disease
• 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