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Disease	Synonyms	Description
diabetic cataract	Cataract - diabetic	n_a
diffuse interstitial keratitis		n_a
dentine erosion		n_a
dermoid cyst of skin	Dermoid cyst of skin (finding); Dermoid cyst of sk.. [+] Dermoid cyst of skin (finding); Dermoid cyst of skin; skin Dermoid [-]	A dermoid cyst that is located_in the skin.
dental fluorosis	Intrinsic enamel discolouration of fluorosis; Mott.. [+] Intrinsic enamel discolouration of fluorosis; Mottled teeth; Mottling of enamel [-]	A tooth disease characterized by enamel discolorat..[+] A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. [-]
De Quervain disease	Radial styloid tenosynovitis; Tenosynovitis, de Qu.. [+] Radial styloid tenosynovitis; Tenosynovitis, de Quervain's [-]	n_a
dihydropyrimidine dehydrogenase deficiency	Dihydrouracil Dehydrogenase deficiency; Dihydropyr.. [+] Dihydrouracil Dehydrogenase deficiency; Dihydropyrimidine dehydrogenase deficiency (disorder); familial pyrimidinaemia; thymine-uracilurea [-]	A purine-pyrimidine metabolic disorder that is an ..[+] A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. [-]
Down syndrome	Down's syndrome - trisomy 21; Downs syndrome; Down.. [+] Downs syndrome; Down's syndrome - trisomy 21; Down's syndrome; Complete trisomy 21 syndrome (disorder); G Trisomy; trisomy 21 syndrome; Complete trisomy 21 syndrome [-]	A chromosomal disease that is characterized by fla..[+] A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. [-]
dystrophies primarily involving the retinal pigment epithelium		n_a
dracunculiasis	Dracontiasis; Infection by Dracunculus medinensis; .. [+] Dracontiasis; Infection by Dracunculus medinensis; Infection by Dracunculus medinensis (disorder) [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. [-]
dipetalonemiasis	dipetalonema infectious disease; Infection by Dipe.. [+] dipetalonema infectious disease; Infection by Dipetalonema (disorder); Infection by Dipetalonema perstans; Infection by Dipetalonema perstans (disorder); Infection by Dipetalonema perstans (disorder) [Ambiguous] [-]	A filariasis that is a zoonotic infection caused b..[+] A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. [-]
dumping syndrome	Dumping (jejunal) syndrome; Jejunal syndrome	n_a
disease of cellular proliferation	cell process disease; neoplasm	A disease that is characterized by abnormally rapi..[+] A disease that is characterized by abnormally rapid cell division. [-]
disease of metabolism	metabolic disease	A disease that involving errors in metabolic proce..[+] A disease that involving errors in metabolic processes of building or degradation of molecules. [-]
diastrophic dysplasia		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. [-]
Dubowitz syndrome	Dubowitz's syndrome (disorder)	A syndrome that is a rare genetic disorder charact..[+] A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. [-]
diphenylmethane-4,4'-diisocyanate allergic contact dermatitis	allergic contact dermatitis to MDI	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. [-]
disodium cromoglycate allergy	DSCG allergy	A drug allergy that has_allergic_trigger disodium ..[+] A drug allergy that has_allergic_trigger disodium cromoglycate. [-]
drug-induced lupus erythematosus	DILE; DIL	A lupus erythematosus caused by chronic use of cer..[+] A lupus erythematosus caused by chronic use of certain drugs. [-]
disease by infectious agent	infectious disease	A disease that is the consequence of the presence ..[+] A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. [-]
dengue shock syndrome	DSS	A dengue disease that involves the most severe for..[+] A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. [-]
desquamative interstitial pneumonia	familial desquamative interstitial pneumonitis; RB.. [+] familial desquamative interstitial pneumonitis; RBILD; respiratory bronchiolitis-associated interstitial lung disease [-]	An idiopathic interstitial pneumonia that is chara..[+] An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. [-]
dioctophymiasis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. [-]
Danon disease	ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II	A lysosomal storage disease that is characterized ..[+] A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. [-]
Donohue syndrome	Leprechaunism	n_a
D-2-hydroxyglutaric aciduria		An 2-hydroxyglutaric aciduria that involves develo..[+] An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. [-]
distal arthrogryposis	Arthrogryposis Multiplex Congenita; Freeman-Sheldo.. [+] Arthrogryposis Multiplex Congenita; Freeman-Sheldon syndrome; Freeman-Sheldon syndrome variant; Sheldon-Hall syndrome [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]
dyskinetic cerebral palsy	Athetoid Dyskinetic Cerebral Palsy	A cerebral palsy that is caused by damage to the e..[+] A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. [-]
Dent disease	Dent's disease; Dent disease 2; Dent disease 1	A renal tubular transport disease that is characte..[+] A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. [-]
diffuse large B-cell lymphoma		A B-cell lymphoma that is a cancer of B cells pres..[+] A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. [-]
deafness dystonia syndrome	Dystonia Deafness Syndrome; Deafness Dystonia Opti.. [+] Dystonia Deafness Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome (DDON); Deafness Dystonia Optic Atrophy Syndrome; Mohr-Tranebjaerg Syndrome [-]	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. [-]
diabetic encephalopathy		A brain disease that is characterized by functiona..[+] A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. [-]
duodenum adenoma		A duodenal benign neoplasm that has_material_basis..[+] A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [-]
DNA ligase IV deficiency	LIG4 Syndrome	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. [-]
developmental disorder of mental health		A disease of mental health that occur during a chi..[+] A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. [-]
ductal carcinoma in situ		A breast carcinoma in situ that is characterized b..[+] A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. [-]
delta chain disease		A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of delta antibody (IgD). [-]
diffuse alopecia areata		An alopecia areata that involves diffuse loss of h..[+] An alopecia areata that involves diffuse loss of hair over the whole scalp. [-]
dentatorubral-pallidoluysian atrophy	DRPLA; Haw River Syndrome; Naito-Oyanagi disease	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. [-]
diversion colitis		A colitis caused_by diversion of the fecal stream ..[+] A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. [-]
Dowling-Degos disease	dark dot disease; reticular pigment anomaly of fle.. [+] dark dot disease; reticular pigment anomaly of flexures [-]	A pigmentation disease characterized by a reticula..[+] A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. [-]
dyschromatosis symmetrica hereditaria	reticulate acropigmentation of Dohi	A pigmentation disease characterized by progressiv..[+] A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. [-]
dyschromatosis universalis hereditaria		A pigmentation disease characterized by reticulate..[+] A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. [-]
dental abscess		A tooth disease characterized by a localized colle..[+] A tooth disease characterized by a localized collection of pus associated with a tooth. [-]
distal 10q deletion syndrome	distal monosomy 10q; chromosome 10q26 deletion syn.. [+] distal monosomy 10q; chromosome 10q26 deletion syndrome; monosomy 10qter; telomeric deletion 10q; terminal chromosome 10q26 deletion syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. [-]
Desbuquois dysplasia	Desbuquois syndrome; micromelic dwarfism with vert.. [+] Desbuquois syndrome; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification [-]	An osteochondrodysplasia characterized by short st..[+] An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [-]
drug allergy		An allergic disease that is triggered by a drug.
dicarboxylic aminoaciduria	glutamate-aspartate transport defect	n_a
Doyne honeycomb retinal dystrophy	Doyne honeycomb degeneration of retina; DHRD	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. [-]
Duane-radial ray syndrome	Duane anomaly with radial ray abnormalities and de.. [+] Duane anomaly with radial ray abnormalities and deafness; DR syndrome; acrorenocular syndrome; Okihiro syndrome [-]	An autosomal dominant disease characterized by upp..[+] An autosomal dominant disease characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. [-]

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