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.

D 2/4

• 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
• Dermatoosteopoikilosis - See Buschke Ollendorff syndrome
• Dermatopathia pigmentosa reticularis
• Dermatosparaxis - See Dermatosparaxis Ehlers-Danlos syndrome
• Dermatosparaxis EDS - See Dermatosparaxis Ehlers-Danlos syndrome
• Dermatosparaxis Ehlers-Danlos syndrome
• Dermatostomatitis, erythema multiforme type - See Erythema multiforme
• Dermochondrocorneal dystrophy - See Dermochondrocorneal dystrophy of François
• Dermochondrocorneal dystrophy of François
• Dermo-distortive urticaria - See Familial dermographism
• Dermographism - See Familial dermographism
• Dermoid cysts, hypothyroidism, cleft palate and hypodontia - See Zadik Barak Levin syndrome
• Dermoids of cornea
• Dermolytic epidermolysis bullosa - See Dystrophic epidermolysis bullosa
• Dermoodontodysplasia
• Dermo-odonto-dysplasia - See Dermoodontodysplasia
• DES - See Dysequilibrium syndrome
• DES embryofetopathy - See Diethylstilbestrol syndrome
• DES syndrome - See Diethylstilbestrol syndrome
• Desbuquois dysplasia - See Desbuquois syndrome
• Desbuquois syndrome
• DESC syndrome - See Febrile infection-related epilepsy syndrome
• Desiccytosis hereditary - See Dehydrated hereditary stomatocytosis
• Desmin related myopathy (former name) - See Myofibrillar myopathy
• Desmin storage myopathy (former name) - See Myofibrillar myopathy
• Desminopathy (type) - See Myofibrillar myopathy
• Desmin-related myopathies with Mallory bodies - See Rigid spine syndrome
• Desmoid disorder, hereditary - See Desmoid tumor
• Desmoid tumor
• Desmoid type fibromatosis - See Desmoid tumor
• Desmons syndrome - See Ichthyosiform erythroderma, corneal involvement, deafness
• Desmoplastic infantile astrocytoma
• Desmoplastic infantile ganglioglioma
• Desmoplastic small round cell tumor
• Desmoplastic small round-cell tumor - See Desmoplastic small round cell tumor
• Desmosterolosis
• Desquamation of newborn - See Ichthyosis lamellar 1
• DeVaal disease - See Reticular dysgenesis
• Devastating epileptic encephalopathy in school-aged children - See Febrile infection-related epilepsy syndrome
• Developmental apraxia of speech - See Childhood apraxia of speech
• Developmental delay - hypotonia - extremities hypertrophy - See Grubben de Cock Borghgraef syndrome
• Developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure - SeeMegarbane Jalkh syndrome
• Developmental dysphasia familial
• Developmental dysplasia of hip - not a rare disease
• Developmental Gerstmann syndrome - See Gerstmann syndrome
• Developmental language disorder - See Developmental dysphasia familial
• Developmental prosopagnosia
• Developmental verbal apraxia - See Childhood apraxia of speech
• Developmental verbal dyspraxia - See Childhood apraxia of speech
• Devic disease - See Neuromyelitis optica
• Devic syndrome - See Neuromyelitis optica
• Devic's neuromyelitis optica - See Neuromyelitis optica
• Devriendt syndrome
• Dew itch - See Cutaneous larva migrans
• Dexamethasone sensitive hypertension - See Glucocorticoid-remediable aldosteronism
• Dextrocardia
• Dextrocardia bronchiectasis and sinusitis - See Kartagener syndrome
• Dextrocardia with situs inversus
• Dextrocardia with unusual facies and microphthalmia
• Dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation - See Dextrocardia with unusual facies and microphthalmia
• Dextrocardia-bronchiectasis-sinusitis syndrome - See Kartagener syndrome
• Dextro-looped transposition of the great arteries - See Transposition of the great arteries
• DF - See Dengue fever
• Dfn 3 nonsyndromic hearing loss and deafness - See Deafness, X-linked 2
• DFN3 - See Deafness, X-linked 2
• DFNA 22 - See Deafness, autosomal dominant nonsyndromic sensorineural 22
• DFNA 23 - See Deafness, autosomal dominant nonsyndromic sensorineural 23
• DFNA 24 - See Deafness, autosomal dominant nonsyndromic sensorineural 24
• DFNA17 - See Deafness, autosomal dominant nonsyndromic sensorineural 17
• DFNA3 - See Deafness, autosomal dominant nonsyndromic sensorineural 3
• DFNA53 - See Deafness, autosomal dominant nonsyndromic sensorineural 53
• DFNB1
• DFNB47 - See Deafness, neurosensory, autosomal recessive 47
• DFNB51 - See Deafness, autosomal recessive 51
• DFNB55 - See Deafness, autosomal recessive 55
• DFNX2 - See Deafness, X-linked 2
• DFSP - See Dermatofibrosarcoma protuberans
• DG1O - See DPM3-CDG (CDG-Io)
• DGI-2 - See Dentinogenesis imperfecta type 2
• D-glycerate dehydrogenase deficiency - See Primary hyperoxaluria type 2
• D-Glycerate kinase deficiency - See D-glycericacidemia
• D-glycericacidemia
• DGUOK Deficiency - See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• DH - See Dermatitis herpetiformis
• DHAPAT deficiency - See Rhizomelic chondrodysplasia punctata
• DHD - See Doyne honeycomb retinal dystrophy
• DHDDS-CDG
• DHFR deficiency - See Megaloblastic anemia due to dihydrofolate reductase deficiency
• dHMN - Another name for Distal hereditary motor neuropathy
• DHOF - See Focal dermal hypoplasia
• DHPR deficiency - See Dihydropteridine reductase deficiency
• DHRD - See Doyne honeycomb retinal dystrophy
• DHTR deficiency - See Androgen insensitivity syndrome
• DHX30-Related disorder - See Neurodevelopmental disorder with severe motor impairment and absent language
• DHX30-Related neurodevelopmental disorder - See Neurodevelopmental disorder with severe motor impairment and absent language
• Di Guglielmo syndrome - See Acute erythroid leukemia
• Di Guglielmo's syndrome
• di Sala syndrome - See Warfarin syndrome
• DI-2 - See Dentinogenesis imperfecta type 2
• DIA - See Desmoplastic infantile astrocytoma
• Diabetes and deafness, maternally inherited - See Maternally inherited diabetes and deafness
• Diabetes and pancreatic exocrine dysfunction - See Maturity-onset diabetes of the young
• Diabetes in bearded women - See Achard Thiers syndrome
• Diabetes insipidus and mellitus with optic atrophy and deafness - See Wolfram syndrome
• Diabetes insipidus cranial type - See Central diabetes insipidus
• Diabetes insipidus gestational - See Gestational diabetes insipidus
• Diabetes insipidus nephrogenic - See Nephrogenic diabetes insipidus
• Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
• Diabetes insipidus nephrogenic type 1 - See Nephrogenic diabetes insipidus
• Diabetes insipidus nephrogenic X-linked - See Nephrogenic diabetes insipidus
• Diabetes insipidus neurogenic - See Central diabetes insipidus
• Diabetes insipidus neurohypophyseal - See Central diabetes insipidus
• Diabetes mellitus MODY type 1 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 2 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 3 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 4 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 6 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 7 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 8 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 9 - See Maturity-onset diabetes of the young
• Diabetes mellitus type 1 - not a rare disease
• Diabetes mellitus type II with deafness - See Maternally inherited diabetes and deafness
• Diabetes mellitus, 6q24-related transient neonatal - See Transient neonatal diabetes mellitus
• Diabetes mellitus, Addison's disease, myxedema - See Autoimmune polyglandular syndrome type 2
• Diabetes mellitus, insulin dependent - See Diabetes mellitus type 1 - not a rare disease
• Diabetes mellitus, insulin-resistant, with acanthosis nigricans - See Insulin-resistant acanthosis nigricans, type A
• Diabetes mellitus, transient neonatal - See Transient neonatal diabetes mellitus
• Diabetes persistent mullerian ducts
• Diabetes-deafness syndrome, maternally transmitted - See Maternally inherited diabetes and deafness
• Diabetes-hypogonadism-deafness-intellectual disability syndrome - See Woodhouse Sakati syndrome
• Diabetes-pancreatic exocrine dysfunction syndrome - See Maturity-onset diabetes of the young
• Diabetic fibrous breast disease - See Diabetic mastopathy
• Diabetic fibrous mastopathy - See Diabetic mastopathy
• Diabetic mastopathy
• Diabetic-bearded woman syndrome - See Achard Thiers syndrome