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 3/4

• 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 Distal arthrogryposis type 5
• Distal arthrogryposis type IIB - See Sheldon-Hall syndrome
• 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
• Distal myopathy with vocal cord weakness
• Distal myopathy, Swedish type - See Welander distal myopathy, Swedish type
• Distal primary acidosis, familial
• Distal renal tubular acidosis with hemolytic anemia
• Distal spinal muscular atrophy - Another name for Distal hereditary motor neuropathy
• Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch - See Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
• Distal trisomy 16p - See Chromosome 16p13.3 duplication
• Distichiasis heart congenital anomalies
• Distilbene embryofetopathy - See Diethylstilbestrol syndrome