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Disease	Synonyms	Description	Articles	Phenotypes
developmental and epileptic encephalopathy 93	DEE93; IECEE3; infantile or early childhood epilep.. [+] DEE93; IECEE3; infantile or early childhood epileptic encephalopathy 3; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. [-]
developmental and epileptic encephalopathy 94		A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. [-]
developmental and epileptic encephalopathy 95	DEE95; early infantile epileptic encephalopathy 95.. [+] DEE95; early infantile epileptic encephalopathy 95; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. [-]
developmental and epileptic encephalopathy 96	DEE96;	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. [-]
developmental and epileptic encephalopathy 97	DEE97; early infantile epileptic encephalopathy 97.. [+] DEE97; early infantile epileptic encephalopathy 97; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. [-]
developmental and epileptic encephalopathy 98	DEE98; early infantile epileptic encephalopathy 98.. [+] DEE98; early infantile epileptic encephalopathy 98; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. [-]
developmental and epileptic encephalopathy 99	DEE99; early infantile epileptic encephalopathy 99.. [+] DEE99; early infantile epileptic encephalopathy 99; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. [-]
developmental cardiac valvular defect		A physical disorder that has_material_basis_in hom..[+] A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. [-]
developmental coordination disorder		A specific developmental disorder that involves di..[+] A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. [-]
developmental delay, dysmorphic facies, and brain anomalies	DEVDFB;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. [-]
developmental delay, hypotonia, and impaired language	DEDHIL;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. [-]
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome		A syndrome that is characterized by developmental ..[+] A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). [-]
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
developmental dysplasia of the hip		A bone development disease characterized by abnorm..[+] A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. [-]
developmental dysplasia of the hip 1	DDH1;	A developmental dysplasia of the hip that is chara..[+] A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. [-]
developmental dysplasia of the hip 2	DDH2;	A developmental dysplasia of the hip that is chara..[+] A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. [-]
dextro-looped transposition of the great arteries	congenitally uncorrected transposition of the grea.. [+] congenitally uncorrected transposition of the great arteries; congenitally uncorrected transposition of the great vessels; D-TGA; isolated ventriculoarterial discordance; ventriculoarterial discordance with atrioventricular concordance; DTGA1; [-]	A congenital heart disease characterized by comple..[+] A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. [-]	1 articles
dextrocardia	Heart predominantly in right hemithorax;	n_a
diabetes insipidus		A kidney disease that is characterized by polydips..[+] A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. [-]	7 articles
diabetes mellitus	diabetes;	A glucose metabolism disease that is characterized..[+] A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. [-]	30 articles
diabetic angiopathy	Diabetic vascular disorder; diabetic peripheral an.. [+] Diabetic vascular disorder; diabetic peripheral angiopathy; [-]	A peripheral vascular disease that is characterize..[+] A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. [-]
diabetic autonomic neuropathy	Diabetic autonomic neuropathy (disorder); Diabetic.. [+] Diabetic autonomic neuropathy (disorder); Diabetic autonomic neuropathy; [-]	n_a
diabetic cataract	Cataract - diabetic;	A cataract that is characterized by loss of lens t..[+] A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. [-]	1 articles
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. [-]
diabetic ketoacidosis	DIABETES MELLITUS, KETOSIS-PRONE; ketosis-prone di.. [+] DIABETES MELLITUS, KETOSIS-PRONE; ketosis-prone diabetes mellitus; [-]	A metabolic acidosis that is characterized by the ..[+] A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. [-]
diabetic macular edema		n_a
diabetic neuropathy		n_a
diabetic polyneuropathy	Diabetes mellitus with polyneuropathy; Diabetic po.. [+] Diabetes mellitus with polyneuropathy; Diabetic polyneuropathy (disorder); Polyneuropathy in diabetes; Diabetic polyneuropathy; [-]	n_a
diabetic retinopathy	Retinal abnormality - diabetes-related;	n_a	1 articles
dialysis-related amyloidosis	ABeta2M amyloidosis; Amyloidosis Beta2M; Aβ2M amyl.. [+] ABeta2M amyloidosis; Amyloidosis Beta2M; Aβ2M amyloidosis; Beta2-microglobulinic amyloidosis; dialysis-related beta2-microglobulin amyloidosis; [-]	An amyloidosis that is characterized by the deposi..[+] An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. [-]
diaphragm disease		A muscular disease that is located_in the diaphrag..[+] A muscular disease that is located_in the diaphragm. [-]	1 articles
diaphragma sellae meningioma	meningioma of Diaphragm Sellae;	n_a
diaphragmatic eventration		n_a
diaphyseal medullary stenosis with malignant fibrous histiocytoma	bone dysplasia-medullary fibrosarcoma syndrome; di.. [+] bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; Hardcastle syndrome; [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. [-]
diarrhea	diarrhea of presumed infectious origin; diarrhoea;.. [+] diarrhea of presumed infectious origin; diarrhoea; [-]	A gastrointestinal system disease described as the..[+] A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. [-]	4 articles
diastolic heart failure		n_a
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. [-]
dicarboxylic aminoaciduria	glutamate-aspartate transport defect;	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. [-]	1 articles
diclofenac allergy	Voltaren allergy;	A drug allergy that has_allergic_trigger diclofena..[+] A drug allergy that has_allergic_trigger diclofenac. [-]
dicrocoeliasis	disease due to Dicrocoeliidae;	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. [-]
diencephalic astrocytoma	astrocytoma of Diencephalon;	n_a
diencephalic neoplasm	tumor of Diencephalon; malignant diencephalic neop.. [+] tumor of Diencephalon; malignant diencephalic neoplasm; malignant Diencephalic tumor; [-]	n_a
dientamoebiasis	intestinal trichomoniasis;	A parasitic protozoa infectious disease that invol..[+] A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. [-]
differentiating neuroblastoma		n_a
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. [-]
diffuse astrocytoma	Diffuse astrocytoma, low grade; WHO grade II astro.. [+] Diffuse astrocytoma, low grade; WHO grade II astrocytoma; Diffuse astrocytoma (morphologic abnormality); [-]	A low grade glioma that is characterized by diffus..[+] A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. [-]
diffuse astrocytoma, MYB- or MYBL1-altered		A diffuse astrocytoma that is a diffusely infiltra..[+] A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. [-]
diffuse cutaneous mastocytosis	Diffuse Cutaneous Mastocytosis;	n_a
diffuse cystic renal dysplasia	CYSRD; renal dysplasia diffuse cystic; susceptibil.. [+] CYSRD; renal dysplasia diffuse cystic; susceptibility to cystic renal dysplasia; [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]	1 articles
diffuse gastric cancer		A stomach cancer that is characterized by developm..[+] A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. [-]

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