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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]	6 articles
diffuse large B-cell lymphoma	DLBCL	A large B-cell lymphoma that is consisting of medi..[+] A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. [-]
deafness-dystonia-optic neuronopathy syndrome	deafness dystonia syndrome; Deafness Dystonia Opti.. [+] deafness dystonia syndrome; Deafness Dystonia Optic Neuronopathy Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome (DDON); Dystonia Deafness Syndrome; Deafness Dystonia Optic Atrophy Syndrome; Mohr-Tranebjaerg Syndrome; Jensen 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, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. [-]
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. [-]
dropped head syndrome	floppy head syndrome	A spinal disease that is characterized by severe k..[+] A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. [-]
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. [-]	77 articles	54 matches
ductal carcinoma in situ		n_a
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. [-]	1 articles
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 [-]	n_a
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		A hypersensitivity reaction type I disease trigger..[+] A hypersensitivity reaction type I disease triggered by a drug. [-]

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