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.

B 2/4

• Bennion-Patterson syndrome - See Tylosis with esophageal cancer
• Bent bone dysplasia (BBD)-FGFR2 type - See Bent bone dysplasia syndrome
• Bent bone dysplasia syndrome
• Bent spine - See Camptocormism
• Bent Spine Syndrome - See Camptocormism
• BENTA disease
• Beradinelli-Seip syndrome - See Congenital generalized lipodystrophy
• Berardinelli Seip congenital lipodystrophy type 2 - See Congenital generalized lipodystrophy type 2
• Berardinelli syndrome - See Congenital generalized lipodystrophy type 2
• Berardinelli-Seip congenital lipodystrophy - See Congenital generalized lipodystrophy
• Berardinelli-Seip congenital lipodystrophy type 1 - See Congenital generalized lipodystrophy type 1
• Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy - See Congenital generalized lipodystrophy type 4
• Berdon syndrome - See Megacystis microcolon intestinal hypoperistalsis syndrome
• Berger disease - See IgA nephropathy
• Berger's disease - See IgA nephropathy
• Beriberi
• Berk-Tabatznik syndrome
• Berlin Breakage syndrome - See Nijmegen breakage syndrome
• Berman syndrome - See Mucolipidosis type 4
• Bernard-Horner Syndrome - See Horner's syndrome
• Bernard-Soulier syndrome - See Giant platelet syndrome
• Bernhardt-Roth syndrome - See Meralgia paresthetica
• Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
• Beryllium disease
• Beryllliosis - See Beryllium disease
• Best disease - See Best vitelliform macular dystrophy
• 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