Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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familial hypercholesterolemia |
type II hyperlipidemia; familial hyperbetalipoprot..
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A familial hyperlipidemia characterized by very hi..[+]
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1 articles | |
white piedra |
Tinea blanca; White piedra (disorder); White piedr..
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A superficial mycosis that is a superficial fungal..[+]
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necrotizing ulcerative gingivitis |
n_a
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epicondylitis |
tennis elbow; andrel epicondylitis; archer's elbow..
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A bone inflammation disease that results_in inflam..[+]
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De Quervain disease |
Tenosynovitis, de Quervain's; Radial styloid tenos..
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n_a
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dihydropyrimidine dehydrogenase deficiency |
thymine-uracilurea; Dihydropyrimidine dehydrogenas..
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A purine-pyrimidine metabolic disorder that is an ..[+]
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Down syndrome |
trisomy 21 syndrome; Complete trisomy 21 syndrome ..
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A chromosomal disease that is characterized by fla..[+]
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7 articles | |
oral candidiasis |
A candidiasis that involves fungal infection of th..[+]
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parietal lobe neoplasm |
tumor of Parietal Lobe; malignant neoplasm of pari..
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A cerebrum cancer that is located_in the parietal ..[+]
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Niemann-Pick disease |
Type A Niemann-Pick Disease; lipoid histiocytosis ..
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A sphingoliidosis characterized by the accumulatio..[+]
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Ehlers-Danlos syndrome classic type 1 |
type I Ehlers-Danlos syndrome; Ehlers-Danlos syndr..
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An Ehlers-Danlos syndrome that is characterized by..[+]
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Ehlers-Danlos syndrome hypermobility type |
type III Ehlers-Danlos syndrome; Ehlers-Danlos syn..
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An Ehlers-Danlos syndrome that is characterized by..[+]
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brittle cornea syndrome 1 |
type VIB Ehlers-Danlos syndrome; brittle cornea sy..
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An Ehlers-Danlos syndrome that is characterized by..[+]
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olivopontocerebellar atrophy |
Thomas' syndrome; Dejerine-Thomas syndrome; WADIA-..
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A neurodegenerative disease that is characterized ..[+]
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carbamazepine allergy |
Tegretol allergy; carbamazepen allergy
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A drug allergy that has_allergic_trigger carbamaze..[+]
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ceftazidime allergy |
Tazicef allergy; Fortaz allergy
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A cephalosporin allergy that has_allergic_trigger ..[+]
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co-trimoxazole allergy |
A drug allergy that has_allergic_trigger co-trimox..[+]
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Flinders Island spotted fever |
Thai tick typhus; FISF
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A spotted fever that has_material_basis_in Rickett..[+]
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Rocky Mountain spotted fever |
A spotted fever that has_material_basis_in Rickett..[+]
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nonepidermolytic palmoplantar keratoderma |
A palmoplantar keratosis characterized by a well-d..[+]
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Antley-Bixler syndrome with disordered steroidogenesis |
trapezoidocephaly-synostosis syndrome
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An Antley-Bixler syndrome that is characterized at..[+]
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endemic typhus |
toulon typhus; cat flea rickettsiosis; fleaborne t..
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A typhus that has_material_basis_in Rickettsia typ..[+]
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nonphotosensitive trichothiodystrophy 4 |
TTD4; AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYND..
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A syndrome that is characterized by brittle hair, ..[+]
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familial medullary thyroid carcinoma |
THYROID CARCINOMA, FAMILIAL MEDULLARY
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A thyroid gland medullary carcinoma that has_mater..[+]
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asphyxiating thoracic dystrophy |
thoracic pelvic phalangeal dystrophy; Jeune syndro..
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A bone development disease characterized by skelet..[+]
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1 articles | |
biliary tract benign neoplasm |
tumor of the extrahepatic bile duct; extrahepatic ..
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A hepatobiliary benign neoplasm located_in the bil..[+]
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nicotine dependence |
tobacco use disorder
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A substance dependence that is characterized by a ..[+]
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1 articles | |
X-linked severe combined immunodeficiency |
thymic epithelial hypoplasia; SCID-X1; XSCID; X-Li..
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A severe combined immunodeficiency that is a X-lin..[+]
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immunodeficiency with hyper IgM type 3 |
type 3 hyper-IgM immunodeficiency; hyper-IgM syndr..
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A hyper IgM syndrome that has_material_basis_in mu..[+]
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Good syndrome |
thymoma with hypogammaglobulinemia
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A combined T cell and B cell immunodeficiency that..[+]
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connective tissue benign neoplasm |
tumor of the soft tissue; soft tissue benign neopl..
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A musculoskeletal system benign neoplasm that is l..[+]
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amyotrophic lateral sclerosis type 10 |
TARDBP-related frontotemporal lobar degeneration w..
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An amyotrophic lateral sclerosis that has_material..[+]
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Balo concentric sclerosis |
Tumefactive multiple sclerosis; Balo's concentric ..
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A multiple sclerosis that is characterized by conc..[+]
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3-M syndrome |
three M syndrome; gloomy face syndrome; Le Merrer ..
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A syndrome characterized by dwarfism, facial dysmo..[+]
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Stormorken syndrome |
thrombocytopathy, asplenia and miosis
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A blood platelet disease characterized by thromboc..[+]
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distal 10q deletion syndrome |
A chromosomal deletion syndrome that is characteri..[+]
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chromosome 15q26-qter deletion syndrome |
telomeric 15q deletion syndrome; 15q26 deletion sy..
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A chromosomal deletion syndrome that is characteri..[+]
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1 articles | |
chromosome 16p13.3 duplication syndrome |
telomeric duplication 16p; 16p13.3 microduplicatio..
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 17p13.3 duplication syndrome |
trisomy 17p13.3; 17p13.3 duplication syndrome; 17p..
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 17q12 duplication syndrome |
trisomy 17q12; 17q12 microduplication syndrome
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 17q21.31 duplication syndrome |
trisomy 17q21.31; 17q21.31 microduplication syndro..
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 1q21.1 duplication syndrome |
trisomy 1q21.1; 1q21.1 microduplication syndrome
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 22q11.2 microduplication syndrome |
trisomy 22q11.2; 22q11.2 microduplication syndrome..
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 3q29 microduplication syndrome |
trisomy 3q29; 3q29 microduplication
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome 5p13 duplication syndrome |
trisomy 5p13; 5p13 microduplication syndrome
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A chromosomal duplication syndrome that has_materi..[+]
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chromosome Xp11.23-p11.22 duplication syndrome |
trisomy Xp11.22-p11.23; microduplication Xp11.22-p..
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A chromosomal duplication syndrome that has_materi..[+]
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horned turban snail allergy |
Turbo cornutus allergy
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A snail allergy triggered by the horned turban sna..[+]
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ankyloglossia |
tongue-tie
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A tongue disease characterized by an unusually sho..[+]
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microcephalic osteodysplastic primordial dwarfism type I |
Taybi-Linder syndrome; brachymelic primordial dwar..
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An osteochondrodysplasia that is a form of microce..[+]
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1 articles | |
Pendred Syndrome |
A syndrome characterized by bilateral prelingual s..[+]
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4 articles |
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