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

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





D/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.

• 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
• Diacyclothrombopathia 2B 3A - See Glanzmann thrombasthenia
• Dialysis-related amyloidosis - See Amyloidosis Beta2M
• Diamond-Blackfan anemia
• Diamond-Blackfan anemia 2
• Diamond-Blackfan anemia 3
• Dianzani autoimmune lymphoproliferative syndrome
• Dianzani form of autoimmune lymphoproliferative disease - See Dianzani autoimmune lymphoproliferative syndrome
• Diaphorase deficiency - See NADH cytochrome B5 reductase deficiency
• Diaphragmatic agenesis radial aplasia omphalocele
• Diaphragmatic defect limb deficiency skull defect - See Froster-Huch syndrome
• Diaphragmatic flutter
• Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria - See Donnai-Barrow syndrome
• Diaphragmatic hernia exomphalos corpus callosum agenesis
• Diaphragmatic hernia upper limb defects
• Diaphragmatic hernia, abnormal face, and distal limb anomalies - See Fryns syndrome
• Diaphyseal dysplasia 1, progressive - See Camurati-Engelmann disease
• Diaphyseal medullary stenosis with malignant fibrous histiocytoma
• Diaphyseal sclerosis, multiple - See Ribbing disease
• DIAR1 - See Congenital chloride diarrhea
• Diarrhea 1, secretory chloride, congenital - See Congenital chloride diarrhea
• Diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Diarrheogenic Islet Cell Tumor - See VIPoma
• Diastematomyelia - See Split spinal cord malformation
• Diastrophic dwarfism - See Diastrophic dysplasia
• Diastrophic dysplasia
• Dibasic aminoaciduria 1
• Dibasic aminoaciduria 2
• Dibasicamino aciduria II - See Lysinuric protein intolerance
• Dicarboxylic aminoaciduria
• Dicarboxylicaminoaciduria - See Dicarboxylic aminoaciduria
• DICER1 syndrome - See DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
• DICER1-related pleuropulmonary blastoma - See DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
• DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
• Dichuchwa - See Bejel
• DI-CMTA - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTB - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTC - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTD - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTF - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DIDMOAD - See Wolfram syndrome
• DIDMOAD syndrome - See Wolfram syndrome
• Die Smulders Droog Van Dijk syndrome
• Die Smulders Vles Fryns syndrome
• Diencephalic cachexia - See Diencephalic syndrome
• Diencephalic syndrome
• Diencephalic syndrome of childhood - See Diencephalic syndrome
• Diencephalic syndrome of emaciation - See Diencephalic syndrome
• Dienoyl-CoA reductase deficiency - See 2,4-Dienoyl-CoA reductase deficiency
• Dieterich disease - See Dieterich's disease
• Dieterich's disease
• Diethylstilbestrol embryofetopathy - See Diethylstilbestrol syndrome
• Diethylstilbestrol prenatal exposure - See Diethylstilbestrol syndrome
• Diethylstilbestrol syndrome
• Dieulafoy disease - See Dieulafoy lesion
• Dieulafoy lesion
• Dieulafoy's lesion - See Dieulafoy lesion
• Diffuse alopecia - See Alopecia areata - not a rare disease
• Diffuse astrocytoma
• Diffuse cavernous hemangioma of the rectum
• Diffuse cerebral degeneration in infancy - See Alpers syndrome
• Diffuse cerebral sclerosis of Schilder - See Tumefactive multiple sclerosis
• Diffuse cutaneous maculopapulous mastocytosis - See Diffuse cutaneous mastocytosis
• Diffuse cutaneous mastocytosis
• Diffuse cutaneous systemic scleroderma - See Diffuse cutaneous systemic sclerosis
• Diffuse cutaneous systemic sclerosis - See Diffuse cutaneous systemic sclerosis
• Diffuse cutaneous systemic sclerosis
• Diffuse cystic renal dysplasia - See Renal dysplasia diffuse cystic
• Diffuse dermal angiomatosis
• Diffuse erythrodermic palmoplantar keratoderma, Vörner type - See Epidermolytic palmoplantar keratoderma
• Diffuse gastric cancer
• Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
• Diffuse idiopathic skeletal hyperostosis - not a rare disease
• Diffuse intrinsic pontine glioma
• Diffuse isolated mesangial sclerosis - See Diffuse mesangial sclerosis
• Diffuse Large B-Cell Lymphoma
• Diffuse leiomyomatosis in Alport syndrome - See Leiomyomatosis, esophageal and vulval, with nephropathy
• Diffuse Lewy body disease - See Lewy body dementia - not a rare disease
• Diffuse mesangial sclerosis
• Diffuse neonatal hemangiomatosis
• Diffuse NEPPK - See Unna-Thost palmoplantar keratoderma
• Diffuse nonepidermolytic palmoplantar keratoderma - See Unna-Thost palmoplantar keratoderma
• Diffuse palmoplantar keratoderma with deafness (subtype) - See Keratoderma palmoplantar deafness
• Diffuse palmoplantar keratoderma, Bothnian type
• Diffuse panbronchiolitis
• Diffuse peritoneal leiomyomatosis - See Disseminated peritoneal leiomyomatosis
• Diffuse pigmented villonodular synovitis - See Pigmented villonodular synovitis
• Diffuse uveitis - See Panuveitis
• Diffuse-type GCT - See Pigmented villonodular synovitis
• Diffuse-type giant cell tumor - See Pigmented villonodular synovitis
• DIG - See Desmoplastic infantile ganglioglioma
• DiGeorge syndrome - See 22q11.2 deletion syndrome
• Digestive System Melanoma
• Digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a - See Vascular hyalinosis
• Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum - See Feingold syndrome
• Digitate dermatosis - See Parapsoriasis
• Digitorenocerebral syndrome - See DOOR syndrome
• Digitotalar dysmorphism - See Distal arthrogryposis type 1
• Dihydrofolate reductase deficiency - See Megaloblastic anemia due to dihydrofolate reductase deficiency
• Dihydrolipoamide dehydrogenase deficiency
• Dihydropteridine reductase deficiency
• Dihydropyrimidinase deficiency
• Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• Dihydropyrimidinuria - See Dihydropyrimidinase deficiency
• Dihydrotestosterone receptor deficiency - See Androgen insensitivity syndrome
• Dihydroxyacetonephosphate acyltransferase deficiency - See Rhizomelic chondrodysplasia punctata
• Dihydroxyadeninuria
• Dilantin Embryopathy - See Fetal hydantoin syndrome
• Dilated cardiomyopathy
• Dilated cardiomyopathy with ataxia - See DCMA syndrome
• Dilated cardiomyopathy with hypergonadotropic hypogonadism
• Dilated cardiomyopathy, familial - See Familial dilated cardiomyopathy
• Dilated cardiomyopathy-1S - See Familial dilated cardiomyopathy
• Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
• Dilutional hyponatremia - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Dimyelia - See Split spinal cord malformation
• Dinno Shearer Weisskopf syndrome - See Pseudomarfanism
• Diomedi Bernardi Placidi syndrome
• Dionisi Vici Sabetta Gambarara syndrome - See Vici syndrome
• Dipetalonema infections - See Acanthocheilonemiasis
• Dipetalonemiasis - See Acanthocheilonemiasis
• DIPG - See Diffuse intrinsic pontine glioma
• Diphallia
• Diphallus - See Diphallia
• Diphallus rachischisis imperforate anus
• Diphosphoglycerate mutase deficiency of erythrocyte
• Diphtheria
• Diploid/triploid mixoploidy - See Diploid-triploid mosaicism
• Diploid/triploid mosaicism - See Diploid-triploid mosaicism
• Diploid-triploid mosaicism
• Diplomyelia - See Split spinal cord malformation
• DIPNECH - See Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
• Diprosopia
• Dipsogenic diabetes insipidus
• DIRA - See Deficiency of interleukin-1 receptor antagonist
• Dirofilariasis
• Disaccharide intolerance, 1 - See Congenital sucrase-isomaltase deficiency
• DiSala syndrome - See Warfarin syndrome
• Discoid lupus - See Lupus - not a rare disease
• Disembarkment syndrome - See Mal de debarquement syndrome
• DISH - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
• DISH Forestier's disease - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
• Dislocation of the hip dysmorphism - See Collins Pope syndrome
• Disomy Y - See 47, XYY syndrome
• Disorder of cornification 11 (phytanic acid type) - See Refsum disease
• Disorder of cornification 12 (neutral lipid storage type) - See Chanarin-Dorfman syndrome
• Disorder of isoleucine metabolism - See Tiglic acidemia
• Disorder of peroxisomal alpha-, beta- and omega-oxidation
• Disorder of peroxisomal function - See Peroxisome disorders - not a rare disease
• Disorder of sex development intellectual disability - See Male pseudohermaphroditism intellectual disability syndrome, Verloes type
• Disorder of valine metabolism - See 3-Hydroxyisobutyric aciduria
• Disordered steroidogenesis due to cytochrome P450 oxidoreductase - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Disorders of Intracellular Cobalamin Metabolism
• Disorders of peroxisome biogenesis - See Peroxisomal biogenesis disorders
• Disorders with deficiency of a single peroxisomal enzyme
• Displaced spleen - See Wandering spleen
• Dissecting cellulitis of the scalp
• Disseminated aseptic abscesses - See Corticosteroid-sensitive aseptic abscesses
• Disseminated infection with mycobacterium avium complex
• Disseminated lupus erythematosus - See Lupus - not a rare disease
• Disseminated nonossifying fibromas in association with cafe-au-lait spots - See Fibromatosis multiple non ossifying
• Disseminated peritoneal leiomyomatosis
• Disseminated superficial actinic porokeratosis
• Disseminated superficial actinic porokeratosis 2 - See Porokeratosis, disseminated superficial actinic 2
• Dissociative seizures
• Distal 17p13.1 microdeletion syndrome - See Chromosome 17p13.1 deletion syndrome
• Distal 18q- - See Distal chromosome 18q deletion syndrome
• Distal 18q deletion - See Distal chromosome 18q deletion syndrome
• Distal 18q deletion syndrome - See Distal chromosome 18q deletion syndrome
• Distal 3p deletion - See Chromosome 3p- syndrome
• Distal arthrogryposis
• Distal arthrogryposis type 1
• Distal arthrogryposis type 1A (sub-type) - See Distal arthrogryposis type 1
• Distal arthrogryposis type 1B (sub-type) - See Distal arthrogryposis type 1
• Distal arthrogryposis type 2A - See Freeman Sheldon syndrome
• Distal arthrogryposis type 2B - See Sheldon-Hall syndrome
• Distal arthrogryposis type 3 - See Gordon syndrome
• Distal arthrogryposis type 5
• Distal arthrogryposis type 5 without ophthalmoparesis - See Distal arthrogryposis
• Distal arthrogryposis type 5 without ophthalmoplegia - See Distal arthrogryposis
• Distal arthrogryposis type 5D - See Distal arthrogryposis
• Distal arthrogryposis type 6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
• Distal arthrogryposis type 7 - See Trismus-pseudocamptodactyly syndrome
• Distal arthrogryposis type 8 - See Distal arthrogryposis
• Distal arthrogryposis type 9 - See Congenital contractural arachnodactyly
• Distal arthrogryposis type IIB - See Sheldon-Hall syndrome
• Distal arthrogryposis type IIB - See Distal arthrogryposis type 5
• Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
• Distal arthrogryposis with ophthalmoplegia - See Distal arthrogryposis type 5
• Distal chromosome 18q deletion syndrome
• Distal Del(17)(p13.1) - See Chromosome 17p13.1 deletion syndrome
• Distal deletion 4p - See Wolf-Hirschhorn syndrome
• Distal duplication 16p - See Chromosome 16p13.3 duplication
• Distal hereditary motor neuropathy
• Distal monosomy 17q - See Chromosome 17q deletion
• Distal monosomy 3p - See Chromosome 3p- syndrome
• Distal monosomy 4p - See Wolf-Hirschhorn syndrome
• Distal myopathy 2 - See Distal myopathy with vocal cord weakness
• Distal myopathy with rimmed vacuoles - See Inclusion body myopathy 2