Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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X-linked spondyloepimetaphyseal dysplasia |
SEMD X-linked; SEMDX;
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A spondyloepimetaphyseal dysplasia that has_materi..[+]
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X-linked thrombocytopenia with beta-thalassemia |
beta-thalassemia-X-linked thrombocytopenia syndrom..
[+]
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A hematopoietic system disease characterized by va..[+]
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X-linked thrombophilia due to factor IX defect |
THPH8;
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A thrombophilia characterized by normal levels of ..[+]
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X-linked warfarin sensitivity |
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An inherited metabolic disorder that is characteri..[+]
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XFE progeroid syndrome |
XFEPS; XPF-ERCC1 progeroid syndrome;
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A progeroid syndrome that is characterized by aged..[+]
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1 articles | |
Xia-Gibbs Syndrome |
MRD25; autosomal dominant mental retardation 25;
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An autosomal dominant intellectual developmental d..[+]
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Y-linked deafness |
DFNY;
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A nonsyndromic deafness characterized by a Y-lnked..[+]
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Y-linked deafness 1 |
DFNY1;
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A Y-linked deafness characterized by male-limited ..[+]
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Y-linked deafness 2 |
DFNY2;
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A Y-linked deafness characterized by male-limited ..[+]
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Y-linked monogenic disease |
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A monogenic disease that has_material_basis_in mut..[+]
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Y-linked spermatogenic failure 1 |
SPGFY1; type I Sertoli cell-only syndrome; Y-linke..
[+]
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A Sertoli cell-only syndrome that has_material_bas..[+]
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Y-linked spermatogenic failure 2 |
nonobstructive Y-linked spermatogenic failure; SPG..
[+]
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A spermatogenic failure that is characterized by n..[+]
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Yoon-Bellen neurodevelopmental syndrome |
YOBELN;
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A syndrome characterized by onset in the first dec..[+]
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Yunis-Varon syndrome |
cleidocranial dysplasia-micrognathia-absent thumbs..
[+]
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A syndrome characterized by skeletal defects, incl..[+]
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Zaki syndrome |
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A syndrome characterized by developmental delay, p..[+]
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Zellweger syndrome |
congenital iron overload; peroxisome biogenesis di..
[+]
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A peroxisomal biogenesis disorder that is characte..[+]
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Zika fever |
Zika virus disease;
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A viral infectious disease that has_material_basis..[+]
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1 articles | |
Zika virus congenital syndrome |
ZIKV congenital infection;
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A syndrome that is characterized in neonates by mi..[+]
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Zollinger-Ellison syndrome |
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A syndrome that is characterized by the developmen..[+]
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abdominal aortic aneurysm |
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1;
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An aortic aneurysm that is located_in the abdomina..[+]
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abdominal obesity-metabolic syndrome |
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A syndrome that is characterized by abdominal obes..[+]
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abdominal obesity-metabolic syndrome 1 |
dysmetabolic syndrome X; abdominal obesity-metabol..
[+]
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An abdominal obesity-metabolic syndrome characteri..[+]
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abdominal obesity-metabolic syndrome 3 |
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An abdominal obesity-metabolic syndrome that has_m..[+]
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abdominal obesity-metabolic syndrome 4 |
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An abdominal obesity-metabolic syndrome that is ch..[+]
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abdominal tuberculosis |
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An extrapulmonary tuberculosis that is located_in ..[+]
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abducens nerve neoplasm |
neoplasm of abducens nerve (disorder); VIth Crania..
[+]
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n_a
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abducens nerve palsy |
Abducens nerve disorder; Abducens nerve weakness; ..
[+]
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A cranial nerve palsy characterized by lateral rec..[+]
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abetalipoproteinemia |
familial hypobetalipoproteinemia; microsomal trigl..
[+]
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A hypolipoproteinemia that is characterized by an ..[+]
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1 articles | |
ablepharon macrostomia syndrome |
poikiloderma with neutropenia, Clericuzio type;
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A syndrome characterized by ablepharon, macrostomi..[+]
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abnormal pupillary function |
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n_a
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abnormal retinal correspondence |
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n_a
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abnormal threshold of rods |
abnormal dark adaptation curve;
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n_a
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abnormality of glucagon secretion |
Glucagon secretion abnormality;
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n_a
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absolute glaucoma |
blind hypertensive eye;
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A glaucoma that is characterized by a total loss o..[+]
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acalculous cholecystitis |
acute cholecystitis without calculus (disorder); c..
[+]
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A cholecystitis characterized by the absence of ga..[+]
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acanthocephaliasis |
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A parasitic helminthiasis infectious disease that ..[+]
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acantholytic acanthoma |
Acantholytic acanthoma;
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n_a
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acantholytic squamous cell skin carcinoma |
acantholytic squamous cell carcinoma of skin ; Aca..
[+]
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n_a
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acantholytic variant squamous cell breast carcinoma |
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n_a
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acanthoma |
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n_a
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acanthosis nigricans |
Acanthosis nigricans (disorder); Keratosis nigrica..
[+]
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A pigmentation disease characterized by velvety, d..[+]
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1 articles | |
acatalasia |
deficiency of catalase (disorder); deficiency of c..
[+]
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A peroxisomal disease characterized by loss of cat..[+]
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accessory nerve disease |
disorder of 11th nerve; disorder of accessory [11t..
[+]
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A glossopharyngeal nerve disease that is character..[+]
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accommodative esotropia |
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n_a
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accommodative spasm |
Spasm of accommodation;
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n_a
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aceruloplasminemia |
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An iron metabolism disease that has_material_basis..[+]
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achalasia |
achalasia of cardia; achalasia of esophagus; esoph..
[+]
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An esophageal disease that is characterized by an ..[+]
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achalasia microcephaly syndrome |
Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYN..
[+]
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A syndrome that is characterized by microcephaly, ..[+]
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acheiropody |
Acheiropodia; Horn-Kolb Syndrome;
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An osteochondrodysplasia characterized by a lack o..[+]
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achondrogenesis |
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An osteochondrodysplasia that has_material_basis_i..[+]
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