Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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histidine metabolism disease |
Disturbances of histidine metabolism
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An amino acid metabolic disorder that involves def..[+]
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urea cycle disorder |
An amino acid metabolic disorder that involves a d..[+]
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1 articles | ||
maple syrup urine disease |
dihydrolipoamide dehydrogenase deficiency; branche..
[+]
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An organic acidemia that is caused by a deficiency..[+]
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alkaptonuria |
deficiency of homogentisicase; Homogentisate 1,2-d..
[+]
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An amino acid metabolic disorder that involves phe..[+]
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ornithine carbamoyltransferase deficiency |
deficiency of citrulline phosphorylase; ornithine ..
[+]
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An urea cycle disorder that involves a mutated and..[+]
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citrullinemia |
deficiency of citrulline-aspartate ligase; ASS def..
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An inherited urea cycle disorder that involves the..[+]
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hyperargininemia |
deficiency of canavanase; Arginase deficiency (dis..
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An urea cycle disorder that involves arginase defi..[+]
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lip disease |
disease of lips
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A mouth disease located_in the lip.
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6 articles | |
carotid artery dissection |
Dissection of carotid artery; Carotid artery disse..
[+]
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n_a
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neonatal abstinence syndrome |
Drug withdrawal syndrome in newborn
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A withdrawal disorder that is characterized by a g..[+]
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miliary tuberculosis |
An extrapulmonary tuberculosis that results in for..[+]
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toxoplasmosis |
disseminated toxoplasmosis
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A coccidiosis that has_material_basis_in protozoan..[+]
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1 articles | |
hymenolepiasis |
dwarf tapeworm infection; Hymenolepis infectious d..
[+]
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A parasitic helminthiasis infectious disease that ..[+]
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hyperpigmentation of eyelid |
dark eyelids; dyspigmentation of eyelid
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An eyelid disease that is characterized by dark ey..[+]
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otorrhea |
discharging ear
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An auditory system disease that is characterized b..[+]
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breast fibrocystic disease |
Diffuse cystic mastopathy; FIBROcystic DISEASE OF ..
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A breast benign neoplasm that has_material_basis_i..[+]
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metachromatic leukodystrophy |
deficiency of cerebroside-sulfatase; arylsulfatase..
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A sphingolipidosis characterized by the accumulati..[+]
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Krabbe disease |
Diffuse globoid body sclerosis; beta galactocerebr..
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n_a
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adrenoleukodystrophy |
A leukodystrophy that disrupts the breakdown of ve..[+]
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Wolfram syndrome |
A syndrome that is characterized by diabetes melli..[+]
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abducens nerve palsy |
disorder of abducent nerve; Abducens nerve disorde..
[+]
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A cranial nerve palsy characterized by lateral rec..[+]
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epidemic pleurodynia |
devil's grip; Bornholm disease; epidemic myalgia; ..
[+]
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A viral infectious disease that results in necrosi..[+]
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sickle cell anemia |
drepanocytosis; Hb-S/Hb-C disease; Hemoglobin S di..
[+]
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A sickle cell disease that is characterized by the..[+]
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1 articles | |
multiple personality disorder |
Dissociative identity disorder
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A dissociative disorder that involves the simultan..[+]
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antisocial personality disorder |
Dissocial personality disorder; Psychopathic perso..
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A personality disorder that involves a pervasive p..[+]
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strongyloidiasis |
disseminated strongyloidiasis; Infection by Strong..
[+]
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A parasitic helminthiasis infectious disease that ..[+]
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spastic diplegia |
Diplegic infantile cerebral palsy; cerebral spasti..
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A spastic cerebral palsy that affects lower extrem..[+]
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psychologic dyspareunia |
Dyspareunia, psychogenic; Non-organic dyspareunia; ..
[+]
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n_a
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prolapse of lacrimal gland |
Dislocation of lacrimal gland
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n_a
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parathyroid gland disease |
disease of parathyroid glands
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An endocrine system disease that is located_in the..[+]
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2 articles | 11 matches |
small intestine diverticulitis |
Diverticulosis of small intestine with hemorrhage; ..
[+]
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n_a
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vitamin K deficiency bleeding |
A nutritional deficiency disease that is character..[+]
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cat-scratch disease |
A bartonellosis that results_in infection located_..[+]
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ainhum |
Dactylolysis spontanea; Ainhum
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A connective tissue disease that results in increa..[+]
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bladder diverticulum |
Diverticulum of bladder; Diverticulum - bladder
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n_a
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megacolon |
Dilatation of colon
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A colonic disease that is characterized by an abno..[+]
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2 articles | |
expressive language disorder |
Developmental expressive language disorder
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A language disorder that involves difficulties wit..[+]
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corneal deposit |
Deposits - cornea
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n_a
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Chandler syndrome |
Dystrophy of corneal endothelium; Chandler's syndr..
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A corneal dystrophy that is characterized by corne..[+]
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neurocirculatory asthenia |
Da Costa's syndrome; Cardiovascular malfunction ar..
[+]
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A somatoform disorder that involves heart disease ..[+]
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Patau syndrome |
D1 Trisomy; trisomy 13; Patau's syndrome
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n_a
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neonatal diabetes |
diabetes mellitus syndrome in newborn infant; neon..
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A diabetes mellitus that is characterized by hyper..[+]
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5 articles | |
myotonic dystrophy type 1 |
Dystrophia myotonica; congenital myotonic dystroph..
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A myotonic disease that is characterized by progre..[+]
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Cornelia de Lange syndrome |
De Lange syndrome; Brachmann de Lange syndrome
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A syndrome that is characterized by slow growth be..[+]
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Pick's disease |
A frontotemporal dementia that is characterized by..[+]
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tinea cruris |
A dermatophytosis that results_in fungal skin infe..[+]
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panuveitis |
Diffuse uveitis
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An uveitis that is characterized by inflammation o..[+]
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tinea corporis |
A dermatophytosis that results_in fungal infection..[+]
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oligohydramnios |
delivered oligohydramnios; antepartum oligohydramn..
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A placenta disease that is characterized by a defi..[+]
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Lewy body dementia |
A dementia that is characterized by the developmen..[+]
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