| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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cerebral amyloid angiopathy
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dutch hereditary cerebral amyloid angiopathy; Here..
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dutch hereditary cerebral amyloid angiopathy; Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder); Cerebral Hemorrhage, Hereditary, with Amyloidosis; Hereditary Cerebral Hemorrhage with Amyloidosis
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An amyloidosis where amyloid protein progressively.. [+]An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
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histidine metabolism disease
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Disturbances of histidine metabolism
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An amino acid metabolic disorder that involves def.. [+]An amino acid metabolic disorder that involves deficiency in histidine.
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urea cycle disorder
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disorder of urea cycle metabolism; disorder of met..
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disorder of urea cycle metabolism; disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia; urea cycle defect
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An amino acid metabolic disorder that involves a d.. [+]An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
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1 articles
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maple syrup urine disease
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dihydrolipoamide dehydrogenase deficiency; branche..
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dihydrolipoamide dehydrogenase deficiency; branched chain ketoaciduria; Ketoacidaemia
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An organic acidemia that is caused by a deficiency.. [+]An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
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alkaptonuria
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deficiency of homogentisicase; Homogentisate 1,2-d..
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deficiency of homogentisicase; Homogentisate 1,2-dioxygenase deficiency; alcaptonuria
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An amino acid metabolic disorder that involves phe.. [+]An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
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ornithine carbamoyltransferase deficiency
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deficiency of citrulline phosphorylase; ornithine ..
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deficiency of citrulline phosphorylase; ornithine transcarbamylase deficiency
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An urea cycle disorder that involves a mutated and.. [+]An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
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citrullinemia
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deficiency of citrulline-aspartate ligase; ASS def..
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deficiency of citrulline-aspartate ligase; ASS deficiency; classic citrullinemia
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An inherited urea cycle disorder that involves the.. [+]An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
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hyperargininemia
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deficiency of canavanase; Arginase deficiency (dis..
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deficiency of canavanase; Arginase deficiency (disorder); Arginase deficiency; argininemia
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An urea cycle disorder that involves arginase defi.. [+]An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
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lip disease
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disease of lips
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A mouth disease located_in the lip.
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6 articles
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carotid artery dissection
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Dissection of carotid artery; Carotid artery disse..
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Dissection of carotid artery; Carotid artery dissection (disorder); Carotid artery dissection
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n_a
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neonatal abstinence syndrome
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Drug withdrawal syndrome in newborn
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A withdrawal disorder that is characterized by a g.. [+]A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.
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miliary tuberculosis
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Disseminated tuberculosis; Disseminated tuberculos..
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Disseminated tuberculosis; Disseminated tuberculosis (disorder); generalized tuberculosis; Tuberculosis miliaris disseminata (disorder); acute miliary tuberculosis; Tuberculosis miliaris disseminata
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An extrapulmonary tuberculosis that results in for.. [+]An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
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toxoplasmosis
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disseminated toxoplasmosis
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A coccidiosis that has_material_basis_in protozoan.. [+]A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
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1 articles
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hymenolepiasis
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dwarf tapeworm infection; Hymenolepis infectious d..
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dwarf tapeworm infection; Hymenolepis infectious disease
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
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hyperpigmentation of eyelid
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dark eyelids; dyspigmentation of eyelid
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An eyelid disease that is characterized by dark ey.. [+]An eyelid disease that is characterized by dark eyelids.
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otorrhea
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discharging ear
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An auditory system disease that is characterized b.. [+]An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.
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breast fibrocystic disease
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Diffuse cystic mastopathy; FIBROcystic DISEASE OF ..
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Diffuse cystic mastopathy; FIBROcystic DISEASE OF breast; Fibrocystic disease of breast; breast Fibrocystic Change; Fibrocystic disease of breast (disorder)
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A breast benign neoplasm that has_material_basis_i.. [+]A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
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metachromatic leukodystrophy
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deficiency of cerebroside-sulfatase; arylsulfatase..
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deficiency of cerebroside-sulfatase; arylsulfatase A deficiency; MLD; sulfatide lipoidosis; Scholz cerebral sclerosis
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A sphingolipidosis characterized by the accumulati.. [+]A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
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Krabbe disease
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Diffuse globoid body sclerosis; beta galactocerebr..
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Diffuse globoid body sclerosis; beta galactocerebrosidase deficiency; Galactosylceramide beta-galactosidase deficiency (disorder); GLOBOID CELL LEUKOENCEPHALOPATHY; Krabbe's leukodystrophy; globoid cell leukodystrophy; Galactosylceramide beta-galactosidase deficiency; Krabbe's disease
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n_a
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adrenoleukodystrophy
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diffuse cerebral sclerosis of Schilder; diffuse sc..
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diffuse cerebral sclerosis of Schilder; diffuse sclerosis; ALD; Encephalitis periaxialis concentrica; Schilder disease; SUDANOPHILIC CEREBRAL SCLEROSIS; X-linked adrenoleukodystrophy; Siemerling-Creutzfeldt Disease; Bronze Schilder disease; Schilder's disease; sudanophilic cerebral sclerosis; Encephalitis periaxialis, Schilder's
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A leukodystrophy that disrupts the breakdown of ve.. [+]A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
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Wolfram syndrome
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DIDMOAD; Diabetes mellitus AND insipidus with opti..
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DIDMOAD; Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder); WFS; WS
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A syndrome that is characterized by diabetes melli.. [+]A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
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abducens nerve palsy
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disorder of abducent nerve; Abducens nerve disorde..
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disorder of abducent nerve; Abducens nerve disorder; Abducens nerve weakness; Lateral rectus muscle denervation paresis; Lateral rectus muscle innervation disorder; Sixth cranial nerve disorder, NOS; Sixth nerve palsy (disorder); VIth nerve disorder; VIth nerve Paralysis; Sixth cranial nerve disorder; Sixth or abducens nerve palsy; Sixth nerve palsy; abducens nerve disease; abducens palsy
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A cranial nerve palsy characterized by lateral rec.. [+]A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.
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epidemic pleurodynia
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devil's grip; Bornholm disease; epidemic myalgia; ..
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devil's grip; Bornholm disease; epidemic myalgia; Epidemic, myositis; Bamble disease; Epidemic pleurisy
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A viral infectious disease that results in necrosi.. [+]A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache.
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sickle cell anemia
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drepanocytosis; Hb-S/Hb-C disease; Hemoglobin S di..
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drepanocytosis; Hb-S/Hb-C disease; Hemoglobin S disease without crisis (disorder); hemoglobin SC disease; Hb SC disease; haemoglobin SC disease; Hemoglobin S disease without crisis; sickle cell anaemia; Hb-SS disease without crisis; Sickle-cell/Hb-C disease without crisis
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A blood protein disease that is characterized by l.. [+]A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
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1 articles
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multiple personality disorder
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Dissociative identity disorder
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A dissociative disorder that involves the simultan.. [+]A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
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antisocial personality disorder
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Dissocial personality disorder; Psychopathic perso..
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Dissocial personality disorder; Psychopathic personality; Psychopath.personality; sociopathic personality; Asocial personality; Psychopathic personality disorder
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A personality disorder that involves a pervasive p.. [+]A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
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strongyloidiasis
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disseminated strongyloidiasis; Infection by Strong..
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disseminated strongyloidiasis; Infection by Strongyloides (disorder); Infection by Strongyloides
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
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spastic diplegia
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Diplegic infantile cerebral palsy; cerebral spasti..
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Diplegic infantile cerebral palsy; cerebral spastic infantile paralysis; infantile diplegic cerebral palsy; Infantile spastic cerebral palsy; Littles disease; Little's disease
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A spastic cerebral palsy that affects lower extrem.. [+]A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
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psychologic dyspareunia
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Dyspareunia, psychogenic; Non-organic dyspareunia; ..
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Dyspareunia, psychogenic; Non-organic dyspareunia; Psychologic dyspareunia (disorder); Psychologic dyspareunia
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n_a
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prolapse of lacrimal gland
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Dislocation of lacrimal gland
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n_a
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parathyroid gland disease
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disease of parathyroid glands
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An endocrine system disease that is located_in the.. [+]An endocrine system disease that is located_in the parathyroid gland.
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2 articles
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11 matches
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small intestine diverticulitis
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Diverticulosis of small intestine with hemorrhage; ..
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Diverticulosis of small intestine with hemorrhage
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n_a
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vitamin K deficiency bleeding
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deficiency of vitamin K (disorder); deficiency of ..
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deficiency of vitamin K (disorder); deficiency of vitamin K; vitamin K deficiency; vitamin K deficiency (disorder); vitamin K deficiency hemorrhagic disease
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A nutritional deficiency disease that is character.. [+]A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
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cat-scratch disease
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Debre's Syndrome; Debre-Mollaret Syndrome; Foshay-..
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Debre-Mollaret Syndrome; Debre's Syndrome; Foshay-Mollaret Cat Scratch Fever; benign lymphoreticulosis; cat scratch fever
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A bartonellosis that results_in infection located_.. [+]A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
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ainhum
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Dactylolysis spontanea; Ainhum
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A connective tissue disease that results in increa.. [+]A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
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bladder diverticulum
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Diverticulum of bladder; Diverticulum - bladder
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n_a
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megacolon
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Dilatation of colon
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A colonic disease that is characterized by an abno.. [+]A colonic disease that is characterized by an abnormal dilation of the colon.
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2 articles
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expressive language disorder
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Developmental expressive language disorder
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A language disorder that involves difficulties wit.. [+]A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
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corneal deposit
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Deposits - cornea
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n_a
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Chandler syndrome
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Dystrophy of corneal endothelium; Chandler's syndr..
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Dystrophy of corneal endothelium; Chandler's syndrome (disorder); Endothelial corneal dystrophy; Posterior membrane corneal dystrophy; Chandler's syndrome
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A corneal dystrophy that is characterized by corne.. [+]A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma.
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neurocirculatory asthenia
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Da Costa's syndrome; Cardiovascular malfunction ar..
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Da Costa's syndrome; Cardiovascular malfunction arising from mental factors; Krishaber's disease; Cardiovascular neurosis
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A somatoform disorder that involves heart disease .. [+]A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.
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Patau syndrome
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D1 Trisomy; trisomy 13; Patau's syndrome
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n_a
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neonatal diabetes
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diabetes mellitus syndrome in newborn infant; neon..
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diabetes mellitus syndrome in newborn infant; neonatal diabetes mellitus
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A diabetes mellitus that is characterized by hyper.. [+]A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life.
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5 articles
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myotonic dystrophy type 1
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Dystrophia myotonica; congenital myotonic dystroph..
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Dystrophia myotonica; congenital myotonic dystrophy; myotonic dystrophy of Steinert; Steinert disease
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A myotonic disease that is characterized by progre.. [+]A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
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Cornelia de Lange syndrome
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De Lange syndrome; Brachmann de Lange syndrome
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A syndrome that is characterized by slow growth be.. [+]A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
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Pick's disease
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Dementia in Pick's disease; Dementia in Pick's dis..
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Dementia in Pick's disease; Dementia in Pick's disease (disorder); LOBAR ATROPHY OF BRAIN; Pick disease; PICK DISEASE OF BRAIN
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n_a
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tinea cruris
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dermatophytosis of groin and perianal area; Dhobie..
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dermatophytosis of groin and perianal area; Dhobie itch; Dermatophytosis of groin and perianal area; Dermatophytosis of groin & perianal area; Dermatophytosis of Groin and Perianal Area; Dermatophytosis of groin and perianal area NOS (disorder); Dermatophytosis of groin and perianal area (disorder); (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris)
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A dermatophytosis that results_in fungal skin infe.. [+]A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
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panuveitis
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Diffuse uveitis
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An uveitis that is characterized by inflammation o.. [+]An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
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tinea corporis
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dermatophytosis of the body; Dermatophytosis of th..
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dermatophytosis of the body; Dermatophytosis of the body; Dermatophytosis of the trunk; Dermatophytosis of the body (disorder)
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A dermatophytosis that results_in fungal infection.. [+]A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly.
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oligohydramnios
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delivered oligohydramnios; antepartum oligohydramn..
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delivered oligohydramnios; antepartum oligohydramnios; Oligohydramnios - delivered
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A placenta disease that is characterized by a defi.. [+]A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
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