Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program D/1 ENGLISH

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







D/1



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.

• D ercole syndrome
• D trisomy syndrome (formerly) - See Trisomy 13
• D2HA - See D-2-hydroxyglutaric aciduria
• D-2-HGA - See D-2-hydroxyglutaric aciduria
• D-2-hydroxyglutaric acidemia - See D-2-hydroxyglutaric aciduria
• D-2-hydroxyglutaric aciduria
• Da Silva syndrome - See Intellectual disability - hypoplastic corpus callosum - preauricular tag
• DA1A - See Distal arthrogryposis type 1
• DA2A - See Freeman Sheldon syndrome
• DA2B - See Sheldon-Hall syndrome
• DA3 - See Gordon syndrome
• DA5D - See Distal arthrogryposis
• DA6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
• Dacryocystitis osteopoikilosis - See Osteopoikilosis and dacryocystitis
• DADA2 - See Adenosine Deaminase 2 deficiency
• Daentl Towsend Siegel syndrome
• Dahlberg Borer Newcomer syndrome
• Daish Hardman Lamont syndrome
• Dalmatian hypouricemia - See Renal hypouricemia
• Danbolt-Cross syndrome - See Acrodermatitis enteropathica
• Dancing eye syndrome - See Opsoclonus-myoclonus syndrome
• Dancing eye-dancing feet syndrome - See Opsoclonus-myoclonus syndrome
• Dandy-Walker complex
• Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
• Dandy-Walker like malformation with atrioventricular septal defect
• Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
• Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
• Dandy-Walker malformation with postaxial polydactyly
• Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Dandy-Walker syndrome or malformation (type of DW complex) - See Dandy-Walker complex
• Dandy-Walker variant (type of DW complex) - See Dandy-Walker complex
• Dandy-Walker-like malformation with ASD - See Dandy-Walker like malformation with atrioventricular septal defect
• Daneman Davy Mancer syndrome
• Danks Mayne Kozlowski precocious osteodysplasty - See Osteodysplasty precocious of Danks Mayne and Kozlowski
• Danon disease
• Danubian endemic familial nephropathy - See Balkan endemic nephropathy
• Dappled metaphysis syndrome - See Spondyloepimetaphyseal dysplasia Strudwick type
• Darier disease
• Darier White Disease - See Darier disease
• Darier-Gottron disease - See Erythrokeratodermia variabilis et progressiva
• Darier's disease - See Darier disease
• Darrow-Gamble disease - See Congenital chloride diarrhea
• DAS - See Childhood apraxia of speech
• DAT Deficiency - See Dopamine transporter deficiency syndrome
• Dauwerse-Peters syndrome
• Davenport Donlan syndrome
• Davidson disease - See Microvillus inclusion disease
• Davidson's disease - See Microvillus inclusion disease
• Dawson disease - See Subacute sclerosing panencephalitis
• Dawson Encephalitis - See Subacute sclerosing panencephalitis
• Day blindness, familial - See Hemeralopia, familial
• DAZ - See Y chromosome infertility
• DBA - See Diamond-Blackfan anemia
• DBA2 - See Diamond-Blackfan anemia 2
• DBA3 - See Diamond-Blackfan anemia 3
• D-bifunctional protein deficiency
• DBP deficiency - See D-bifunctional protein deficiency
• DBQD - See Desbuquois syndrome
• DBS/FOAR syndrome - See Donnai-Barrow syndrome
• DC - See Subcortical band heterotopia
• DC - See Dyskeratosis congenita
• DCCD - See Dermochondrocorneal dystrophy of François
• DCM - See Diffuse cutaneous mastocytosis
• DCM - See Dilated cardiomyopathy
• DCMA syndrome
• DCML - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• DCO - See Leri Weill dyschondrosteosis
• DCS - See Chanarin-Dorfman syndrome
• DcSSc - See Diffuse cutaneous systemic sclerosis
• DD - See Diastrophic dysplasia
• DDC deficiency - See Aromatic L-amino acid decarboxylase deficiency
• DDCH - See Deafness, dystonia, and cerebral hypomyelination
• DDD - See Dense deposit disease
• DDEB, generalized - See Dominant dystrophic epidermolysis bullosa
• DDEB, Pasini and Cockayne-Touraine types - See Dominant dystrophic epidermolysis bullosa
• DDEB-gen - See Dominant dystrophic epidermolysis bullosa
• DD-I - See Dentin dysplasia, type 1
• DD-II - See Dentin dysplasia, coronal
• DDOD - See Autosomal dominant deafness-onychodystrophy syndrome
• DDOD syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
• DDON syndrome - See Mohr-Tranebjaerg syndrome
• DDOST-CDG - See DDOST-CDG (CDG-Ir)
• DDOST-CDG (CDG-Ir)
• DDP - See Mohr-Tranebjaerg syndrome
• DDRD - See Dyssegmental dysplasia Rolland-Desbuquois type
• DDS - See Mohr-Tranebjaerg syndrome
• DDSH - See Dyssegmental dysplasia Silverman-Handmaker type
• DDX3X-related intellectual disability
• De Barsy syndrome
• De Die-Smulders-Vles-Fryns syndrome - See Arachnodactyly - intellectual disability - dysmorphism
• De la Chapelle dysplasia - See Atelosteogenesis type 2
• De Lange syndrome - See Cornelia de Lange syndrome
• De morsier syndrome - See Septo-optic dysplasia spectrum
• De novo cryptogenic refractory multifocal febrile status epilepticus - See New-onset refractory status epilepticus
• De Quervain tendinopathy - See De Quervain's disease - not a rare disease
• De Quervain's disease - not a rare disease
• De Quervain's syndrome - See De Quervain's disease - not a rare disease
• De Quervain's tendinitis - See De Quervain's disease - not a rare disease
• De Quervain's tendonitis - See De Quervain's disease - not a rare disease
• De Quervains tenosynovitis - See De Quervain's disease - not a rare disease
• De Sanctis-Cacchione syndrome
• De Toni-Fanconi syndrome - See Fanconi syndrome
• De Vivo disease - See Glucose transporter type 1 deficiency syndrome
• DEAF1 autosomal dominant mutations (subtype) - See DEAF1-associated disorders
• DEAF1 autosomal recessive mutations (subtype) - See DEAF1-associated disorders
• DEAF1 mutations - See DEAF1-associated disorders
• DEAF1 related disorders - See DEAF1-associated disorders
• DEAF1-associated disorders
• DEAF1-associated neurodevelopmental disorder - See DEAF1-associated disorders
• Deafness - dystonia - optic neuronopathy syndrome - See Mohr-Tranebjaerg syndrome
• Deafness - nephritis - ano-rectal malformation - See Deafness nephritis anorectal malformation
• Deafness 3 conductive with stapes fixation - See Deafness, X-linked 2
• Deafness and myopia syndrome
• Deafness and ocular albinism - See Albinism ocular late onset sensorineural deafness
• Deafness and onychodystrophy, dominant form - See Autosomal dominant deafness-onychodystrophy syndrome
• Deafness and pili torti, Bjornstad type - See Bjornstad syndrome
• Deafness conductive ptosis skeletal anomalies
• Deafness conductive stapedial ear malformation facial palsy
• Deafness conductive with stapes fixation - See Deafness, X-linked 2
• Deafness congenital with inner ear agenesis microtia and microdontia - See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
• Deafness craniofacial syndrome
• Deafness dystonia syndrome - See Mohr-Tranebjaerg syndrome
• Deafness enamel hypoplasia nail defects
• Deafness goiter stippled epiphyses
• Deafness hyperuricemia neurologic ataxia
• Deafness hypogonadism syndrome
• Deafness hypospadias metacarpal and metatarsal syndrome
• Deafness mesenteric diverticula of small bowel neuropathy
• Deafness mixed with perilymphatic gusher - See Deafness, X-linked 2
• Deafness mixed with perilymphatic Gusher, X-linked
• Deafness nephritis anorectal malformation
• Deafness nonsyndromic, Connexin 26 linked - See DFNB1
• Deafness oligodontia syndrome
• Deafness peripheral neuropathy arterial disease
• Deafness progressive cataract autosomal dominant
• Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency - See Mohr-Tranebjaerg syndrome
• Deafness vitiligo achalasia - See Congenital deafness with vitiligo and achalasia
• Deafness with goiter - See Pendred syndrome
• Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
• Deafness with LAMM - See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
• Deafness X-linked, DFN3
• Deafness, autosomal dominant nonsyndromic sensorineural 17
• Deafness, autosomal dominant nonsyndromic sensorineural 22
• Deafness, autosomal dominant nonsyndromic sensorineural 23
• Deafness, autosomal dominant nonsyndromic sensorineural 24
• Deafness, autosomal dominant nonsyndromic sensorineural 3
• Deafness, autosomal dominant nonsyndromic sensorineural 53
• Deafness, autosomal recessive 51
• Deafness, autosomal recessive 55
• Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction - See Chudley-Mccullough syndrome
• Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics - See Nathalie syndrome
• Deafness, congenital, and functional heart disease - See Jervell Lange-Nielsen syndrome
• Deafness, congenital, with keratopachydermia and constrictions of fingers and toes - See Vohwinkel syndrome
• Deafness, dystonia, and cerebral hypomyelination
• Deafness, epiphyseal dysplasia, short stature
• Deafness, femoral epiphyseal dysplasia, short stature and developmental delay - See Deafness, epiphyseal dysplasia, short stature
• Deafness, isolated, due to mitochondrial transmission
• Deafness, myopia, cataract, saddle nose-Marshall type - See Marshall syndrome
• Deafness, neurosensory nonsyndromic recessive, DFN
• Deafness, neurosensory, autosomal recessive 47
• Deafness, sensorineural with pituitary dwarfism - See Pituitary hormone deficiency, combined 3
• Deafness, sensorineural, with imperforate anus and hypoplastic thumbs - See Townes-Brocks syndrome
• Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts - See Chudley-Mccullough syndrome
• Deafness, skeletal dysplasia, lip granuloma - See Fountain syndrome
• Deafness, X-linked 2
• Deafness, X-linked 5 - Another name for X-linked hereditary sensory and autonomic neuropathy with deafness
• Deafness, X-linked, DFN
• Deafness-dystonia-optic atrophy syndrome - See Mohr-Tranebjaerg syndrome
• Deafness-dystonia-optic neuronopathy (DDON) syndrome - See Mohr-Tranebjaerg syndrome
• Deafness-dystonia-optic neuronopathy syndrome - See Mohr-Tranebjaerg syndrome
• Deafness-infertility syndrome
• Deafness-lymphedema-leukemia syndrome
• Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome - See DOOR syndrome
• Deafness-onychoosteodystrophy-intellectual disability syndrome - See DOOR syndrome
• Deafness-retinitis pigmentosa syndrome - See Usher syndrome
• Deafness-symphalangism syndrome of Herrmann - See Multiple synostoses syndrome 1
• DEB - See Dystrophic epidermolysis bullosa
• DEB-Pt - See Pretibial epidermolysis bullosa
• Deciduous skin - See Peeling skin syndrome
• dEDS - See Dermatosparaxis Ehlers-Danlos syndrome
• Deep gluteal syndrome - See Piriformis syndrome
• Deerfly fever - See Tularemia
• Defect in leucine metabolism - See HMG CoA lyase deficiency
• Defect of enterocyte intrinsic factor receptor - See Imerslund-Grasbeck syndrome
• Defective apolipoprotein B-100
• Deficiency of alpha-glucosidase - See Glycogen storage disease type 2
• Deficiency of C1 esterase inhibitor - See Hereditary angioedema
• Deficiency of GP 2B 3A complex - See Glanzmann thrombasthenia
• Deficiency of interleukin-1 receptor antagonist
• Deficiency of lysosomal alpha-glucosidase - See Glycogen storage disease type 2
• Deficiency of mitochondrial respiratory chain complex4 - See Cytochrome c oxidase deficiency
• Deficiency of N-glycanase 1
• Deficiency of platelet glycoprotein 1b - See Giant platelet syndrome
• Deficiency of the aminoacylase-1 enzyme - See Aminoacylase 1 deficiency
• Deficiency of vitamin C - See Scurvy
• DEFN - See Balkan endemic nephropathy
• Degenerative disc disease - See Intervertebral disc disease - not a rare disease
• Degner syndrome - See Orofaciodigital syndrome 13
• Degos disease
• Degos 'en cocarde' erythrokeratoderma
• Degos genodermatosis "en cocardes" - See Degos 'en cocarde' erythrokeratoderma
• Degos syndrome - See Degos disease
• Degos's malignant atrophic papulosis - See Degos disease
• Dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• Dehydrated hereditary stomatocytosis
• Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
• Dejerine Roussy syndrome (former) - See Central pain syndrome
• Dejerine-Klumpke palsy - See Klumpke paralysis
• Dejerine-Sottas neuropathy - See Hypertrophic neuropathy of Dejerine-Sottas
• Dejerine-Sottas syndrome - See Hypertrophic neuropathy of Dejerine-Sottas
• Dekaban Arima syndrome - See Joubert syndrome with oculorenal anomalies
• Dekaban-Arima syndrome - See Joubert syndrome with oculorenal anomalies
• Del Castillo syndrome - See Sertoli cell-only syndrome
• Del(1)(q44) - See 1q44 microdeletion syndrome
• Del(10)(q22.3q23.3) - See 10q22.3q23 microdeletion syndrome
• Del(12)(q14) - See 12q14 microdeletion syndrome
• Del(14)(q22q23) - See Frias syndrome
• Del(15)(q11.2) - See 15q11.2 microdeletion
• Del(15)(q24) - See 15q24 microdeletion syndrome
• Del(16)(p11.2) - See 16p11.2 deletion syndrome
• Del(16)(q24.3) - See 16q24.3 microdeletion syndrome
• Del(17)(q11) - See Chromosome 17q11.2 deletion syndrome
• Del(17)(q12) - See 17q12 deletion syndrome
• Del(17)(q23.1q23.2) - See 17q23.1q23.2 microdeletion syndrome
• Del(19)(p13.12) - See 19p13.12 microdeletion syndrome
• Del(2)(p15p16.1) - See 2p15p16.1 microdeletion syndrome
• Del(2)(q23.1) - See 2q23.1 microdeletion syndrome
• Del(2)(q32) - See SATB2-associated syndrome
• Del(2)(q32q33) - See SATB2-associated syndrome
• Del(20)(p12.3) - See 20p12.3 microdeletion syndrome
• Del(3)(q29) - See 3q29 microdeletion syndrome
• Del(3p) syndrome - See Chromosome 3p- syndrome
• Del(5)(q14.3) - See 5q14.3 microdeletion syndrome
• Del(X)(p23) - See Xp22.3 microdeletion syndrome
• Delayed gastric emptying - See Gastroparesis
• Delayed membranous cranial ossification
• Delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids - See Hooft disease
• Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases - See Mehes syndrome
• Deleted in azoospermia - See Y chromosome infertility
• Deletion 10p - See Chromosome 10p deletion
• Deletion 10q - See Chromosome 10q deletion
• Deletion 10q22.3q23.3 - See 10q22.3q23 microdeletion syndrome
• Deletion 11p - See Chromosome 11p deletion
• Deletion 11q - See Chromosome 11q deletion
• Deletion 12p - See Chromosome 12p deletion
• Deletion 12q - See Chromosome 12q deletion
• Deletion 12q14 - See 12q14 microdeletion syndrome
• Deletion 13q - See Chromosome 13q deletion
• Deletion 14q - See Chromosome 14q deletion
• Deletion 15q - See Chromosome 15q deletion
• Deletion 16p - See Chromosome 16p deletion
• Deletion 16q - See Chromosome 16q deletion
• Deletion 17p - See Chromosome 17p deletion
• Deletion 17q - See Chromosome 17q deletion
• Deletion 19p - See Chromosome 19p deletion
• Deletion 19q - See Chromosome 19q deletion
• Deletion 1p - See Chromosome 1p deletion
• Deletion 1q - See Chromosome 1q deletion
• Deletion 1q41-q42 - See Chromosome 1q41-q42 deletion syndrome
• Deletion 20p - See Chromosome 20p deletion
• Deletion 20q - See Chromosome 20q deletion
• Deletion 21q - See Chromosome 21q deletion
• Deletion 22q - See Chromosome 22q deletion
• Deletion 22q13.3 syndrome - See 22q13.3 deletion syndrome
• Deletion 2p - See Chromosome 2p deletion
• Deletion 2q - See Chromosome 2q deletion
• Deletion 2q24 - See Chromosome 2q24 microdeletion syndrome
• Deletion 3p - See Chromosome 3p deletion
• Deletion 3p25 - See Chromosome 3p- syndrome
• Deletion 3q - See Chromosome 3q deletion
• Deletion 4p - See Chromosome 4p deletion
• Deletion 4q - See Chromosome 4q deletion
• Deletion 5p - See Chromosome 5p deletion
• Deletion 5q - See Chromosome 5q deletion
• Deletion 6p - See Chromosome 6p deletion
• Deletion 6q - See Chromosome 6q deletion
• Deletion 6q25 - See Chromosome 6q25 microdeletion syndrome
• Deletion 7p - See Chromosome 7p deletion
• Deletion 7q - See Chromosome 7q deletion
• Deletion 7q11.23 - See Williams syndrome
• Deletion 8p - See Chromosome 8p deletion
• Deletion 8p23.1 - See Chromosome 8p23.1 deletion
• Deletion 8q - See Chromosome 8q deletion
• Deletion 8q24.1 - See Trichorhinophalangeal syndrome type 2
• Deletion 9p - See Chromosome 9p deletion
• Deletion 9q - See Chromosome 9q deletion
• Deletion of chromosome 11p11.2 - See Potocki-Shaffer syndrome
• Delleman Oorthuys syndrome - See Oculocerebrocutaneous syndrome
• Delleman syndrome - See Oculocerebrocutaneous syndrome
• Delta hepatitis - See Hepatitis D
• Delta storage pool disease - See Hermansky-Pudlak syndrome
• Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
• Delta-sarcoglycanopathy
• Dementia familial British
• Dementia multi-infarct - See Binswanger's disease
• Dementia with lobar atrophy and neuronal cytoplasmic inclusions - See Pick's disease
• Dementia, familial Danish
• Dementia, frontotemporal, with parkinsonism - See Frontotemporal dementia
• Dementia, hereditary dysphasic disinhibition - See Frontotemporal dementia, ubiquitin-positive
• Dementia, hereditary multi-infarct type - See CADASIL
• Dementia, prefrontal, with bone cysts - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Dementia, progressive, with lipomembranous polycystic osteodysplasia - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Demodicidosis
• Dendritic cell neoplasm - See Dendritic cell tumor
• Dendritic cell tumor
• Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Dengue fever
• Dengue hemorrhagic fever - See Dengue fever
• Dengue shock syndrome - See Dengue fever
• Dengue virus infection - See Dengue fever
• Dennis Fairhurst Moore syndrome
• Dens in dente and palatal invaginations
• Dense deposit disease
• Dent disease
• Dent syndrome - See Dent disease
• Dental ankylosis - See Ankylosis of teeth
• Dentate Cerebellar Ataxia - See Dyssynergia cerebellaris myoclonica
• Dentatorubral Atrophy - See Dyssynergia cerebellaris myoclonica
• Dentatorubral-pallidoluysian atrophy
• Dentatorubropallidoluysian atrophy - See Dentatorubral-pallidoluysian atrophy
• Dentin dyspalsia, Shields type 2 - See Dentin dysplasia, coronal
• Dentin dysplasia sclerotic bones
• Dentin dysplasia type I - See Dentin dysplasia, type 1
• Dentin dysplasia type II - See Dentin dysplasia, coronal
• Dentin dysplasia, coronal
• Dentin dysplasia, type 1
• Dentinogenesis imperfecta
• Dentinogenesis imperfecta Shields type 3 - See Dentinogenesis imperfecta type 3
• Dentinogenesis imperfecta type 2
• Dentinogenesis imperfecta type 3
• Dentinogenesis imperfecta type III - See Dentinogenesis imperfecta type 3
• Dentinogenesis imperfecta without osteogenesis imperfecta - See Dentinogenesis imperfecta
• Dentinogenesis imperfecta, Shields type 2 - See Dentinogenesis imperfecta type 2
• Dentinogenesis imperfecta, Shields type 3 - See Dentinogenesis imperfecta type 3
• Dents disease - See Dent disease
• Dent's disease - See Dent disease
• Denys-Drash syndrome
• Deoxyguanosine Kinase Deficiency - See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• DEPDC5-Related Epilepsy
• Depersonalization disorder - See Depersonalization/derealization disorder
• Depersonalization/derealization disorder
• Deposition of barium in the lungs - See Baritosis
• Der kaloustian Jarudi Khoury syndrome - See Spinocerebellar degeneration and corneal dystrophy
• Der Kaloustian Mcintosh Silver syndrome
• Dercum disease - See Adiposis dolorosa
• Dercum's disease - See Adiposis dolorosa
• Dermal and ocular lesions, irregular menstrual cycles and altered immune responses - See Yusho Disease
• Dermal eccrine cylindroma
• Dermal Ridges - See Nelson syndrome
• Dermatan sulfate proteoglycan - See Spondylodysplastic Ehlers-Danlos syndrome
• Dermatitis herpetiformis
• Dermatocardioskeletal syndrome Boronne type
• Dermatofibroma - not a rare disease
• Dermatofibrosarcoma protuberans
• Dermatofibrosis lenticularis disseminata with osteopoikilosis - See Buschke Ollendorff syndrome
• Dermatofibrosis, disseminated with osteopoikilosis - See Buschke Ollendorff syndrome
• Dermatographia - See Familial dermographism
• Dermatoleukodystrophy
• Dermatomyositis
• Dermatomyositis sine myositis - See Amyopathic dermatomyositis
• Dermatoosteolysis Kirghizian type