| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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yellow fever
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urban yellow fever; Yellow fever, sylvan; jungle y..
[+]
urban yellow fever; Yellow fever, sylvan; jungle yellow fever; Sylvatic yellow fever
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A viral infectious disease that results in infecti.. [+]A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
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1 articles
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late yaws
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Ulcers of yaws; Gummata and ulcers due to yaws; gu..
[+]
Ulcers of yaws; Gummata and ulcers due to yaws; gummatous frambeside; nodular late yaws; nodular late yaws (disorder); Yaws gummata and ulcers (disorder); Gummata of yaws; multiple papillomata due to yaws and wet crab yaws; Yaws gummata and ulcers
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A yaws that appears after five years of the initia.. [+]A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
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cholesteatoma of middle ear
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Unspecified cholesteatoma (morphologic abnormality..
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Unspecified cholesteatoma (morphologic abnormality); Cholesteatoma of middle ear; Cholesteatoma of middle ear (disorder); Cholesteatoma of middle ear and mastoid; Cholesteatoma of middle ear and/or mastoid; Epidermosis of ear; middle ear cholesteatoma; cholesteatoma; Cholesteatoma of the middle ear; Epidermosis of middle ear
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n_a
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brucellosis
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undulant fever; Maltese fever; Bang's disease; Gib..
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undulant fever; Maltese fever; Bang's disease; Gibraltar fever; Malta fever; Mediterranean fever
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A primary bacterial infectious disease that is cau.. [+]A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
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typhus
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Urban typhus; Classical typhus (fever); endemic fl..
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Urban typhus; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Flea-borne rickettsiosis; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Rat flea typhus; Shop typhus; Typhus fever; European typhus; Famine fever; Mexican typhus; Ship fever; Classical typhus; epidemic louse-borne typhus; Flea typhus; Jail fever; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Hospital fever; Louse-borne rickettsiosis; Moscow typhus; Petechial fever
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A primary bacterial infectious disease that refers.. [+]A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
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cryptorchidism
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undescended testicles; Undescended testis; Undesce..
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Undescended testis; undescended testicles; Undescended testicle; Cryptorchism
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n_a
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indeterminate leprosy
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Uncharacteristic leprosy; Indeterminate leprosy (d..
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Uncharacteristic leprosy; Indeterminate leprosy (disorder); Indeterminate leprosy [group I]; Indeterminate leprosy
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A leprosy that is an early form of the disease whi.. [+]A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.
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schwannoma of ureter
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ureteral schwannoma
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n_a
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Vogt-Koyanagi-Harada disease
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uveomeningoencephalitic syndrome; Vogt-Koyanagi-Ha..
[+]
uveomeningoencephalitic syndrome; Vogt-Koyanagi-Harada disease (disorder); Harada's disease; Vogt-Koyanagi syndrome
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An autoimmune disease that is caused by T helper c.. [+]An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
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prolapse of urethra
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Urethrocele
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A prolapse of female genital organ that is charact.. [+]A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening.
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posterior uveitis
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Uveitis, posterior
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n_a
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deficiency anemia
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Unspecified deficiency anemia; deficiency anemias ..
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Unspecified deficiency anemia; deficiency anemias (disorder); deficiency anemias NOS (disorder); deficiency anemias
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n_a
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acute cystitis
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urinary tract infection
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A cystitis characterized by a sudden onset or seve.. [+]A cystitis characterized by a sudden onset or severe symptoms.
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chancroid
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Ulcus molle, skin; (Chancroid [& bubo]) or (Ducrey..
[+]
Ulcus molle, skin; (Chancroid [& bubo]) or (Ducrey's chancre)
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A primary bacterial infectious disease that is a s.. [+]A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers.
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interstitial cystitis
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ulcerative cystitis
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n_a
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lipoid proteinosis
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URBACH-WIETHE DISEASE; Lipid proteinosis (disorder..
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URBACH-WIETHE DISEASE; Lipid proteinosis (disorder); Lipid proteinosis; Lipoid proteinosis
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n_a
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Trichomonas vaginalis trichomoniasis
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urogenital trichomonas
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A trichomoniasis that involves infection of the ur.. [+]A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
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nonepidermolytic palmoplantar keratoderma
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Unna-Thost Syndrome; diffuse nonepidermolytic palm..
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Unna-Thost Syndrome; diffuse nonepidermolytic palmomplantar keratoderma; tylosis; Thost-Unna Syndrome
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A palmoplantar keratosis characterized by a well-d.. [+]A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
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endemic typhus
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urban typhus; Urban Typhus of Malaya; cat flea ric..
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Urban Typhus of Malaya; urban typhus; cat flea rickettsiosis; fleaborne typhus; murine typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; Shop typhus; toulon typhus
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A typhus that has_material_basis_in Rickettsia typ.. [+]A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.
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cerebellar ataxia, mental retardation and dysequlibrium syndrome
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Uner Tan syndrome; CAMRQ; Cerebellar Ataxia, Menta..
[+]
Uner Tan syndrome; CAMRQ; Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1); VLDLR Cerebellar Hypoplasia
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An syndrome characterized by congenital onset of n.. [+]An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
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gastroduodenal Crohn's disease
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upper GI Crohn's disease
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An inflammatory bowel disease characterized by inf.. [+]An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
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primary coenzyme Q10 deficiency 1
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ubiquinone deficiency 1; coenzyme Q deficiency 1; ..
[+]
ubiquinone deficiency 1; coenzyme Q deficiency 1; CoQ deficiency 1; CoQ10 deficiency, primary, 1; COQ10D1
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A primary coenzyme Q10 deficiency that has_materia.. [+]A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
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overactive bladder syndrome
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urge syndrome; urgency-frequency syndrome; OAB; ov..
[+]
urgency-frequency syndrome; urge syndrome; OAB; overactive bladder
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A bladder disease characterized by urinary urgency.. [+]A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.
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autosomal dominant nonsyndromic deafness 69
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unilateral or asymmetric congenital deafness; auto..
[+]
unilateral or asymmetric congenital deafness; autosomal dominant deafness 69; DFNA69; DCUA
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An autosomal dominant nonsyndromic deafness that h.. [+]An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21.
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tibial muscular dystrophy
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Udd type distal myopathy; Udd myopathy; Finnish ti..
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Udd myopathy; Udd type distal myopathy; Finnish tibial muscular dystrophy; Tardive tibial muscular dystrophy; TMD; distal titinopathy
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A distal myopathy that is characterized by autosom.. [+]A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.
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primary failure of tooth eruption
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unerupted second primary molar; dental noneruption..
[+]
unerupted second primary molar; dental noneruption; familial posterior openbite malocclusion; nonsyndromic primary failure of eruption; PFE; primary retention of teeth
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A tooth disease characterized by incomplete tooth .. [+]A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
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galactose epimerase deficiency
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uridine diphosphate galactose-4-epimerase deficien..
[+]
uridine diphosphate galactose-4-epimerase deficiency; UDP-galactose-4-epimerase deficiency; epimerase deficiency galactosemia; galactosemia III; GALE deficiency; GALE-D; galactosemia type 3
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A galactosemia that has_material_basis_in homozygo.. [+]A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11.
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Mulchandani-Bhoj-Conlin syndrome
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UPD(20)mat; maternal uniparental disomy of chromos..
[+]
UPD(20)mat; maternal uniparental disomy of chromosome 20; maternal UPD(20); MBCS
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A syndrome characterized by prenatal growth restri.. [+]A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.
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isolated cryptophthalmia
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unilateral or bilateral isolated cryptophthalmos; ..
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unilateral or bilateral isolated cryptophthalmos; CRYPTOP
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A cryptophthalmia characterized by absence of the .. [+]A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye.
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