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Diseases

Xanthomatosis

xanthomatosis

Entity Type
Diseases
Relation Groups
2
Relation Preview
16

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Xanthomatosis
Standard Disease Name
xanthomatosis
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D014973
OMIM ID
No data
UMLS ID
C0043325
HPO ID
No data

Description and Extensions

Description
MSH2017_2016_08_12:A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.|HPO2016_07_04:The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. [HPO:curators]|CSP2006:condition of morphologic change in which there is accumulation of lipids in the large foam cells of tissues; the cutaneous manifestation of lipidosis in which plasma fatty acids and lipoproteins are quantitatively changed.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
03
G6PC
glucose-6-phosphatase catalytic subunit
glucose-6-phosphatase catalytic subunit
07
SMPD1
sphingomyelin phosphodiesterase 1
sphingomyelin phosphodiesterase 1