Preferred Name

HYPERLIPIDEMIA, FAMILIAL COMBINED, 3

Synonyms

FAMILIAL COMBINED HYPERLIPIDEMIA

ID

http://purl.bioontology.org/ontology/OMIM/144250

altLabel

FAMILIAL COMBINED HYPERLIPIDEMIA

FCHL3

cui

C0020474

Gene Locus

8p22

Gene Symbol

LPL

LIPD

HDLCQ11

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU065146

http://purl.bioontology.org/ontology/OMIM/MTHU065144

http://purl.bioontology.org/ontology/OMIM/MTHU065145

http://purl.bioontology.org/ontology/OMIM/MTHU065143

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

144250

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPERLIPIDEMIA, FAMILIAL COMBINED, 3

Scope Statement

Susceptibility conferred by mutation in the lipoprotein lipase gene (LPL, 609708.0033) [MOLECULAR BASIS]

tui

T047

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http://purl.bioontology.org/ontology/MESH/D006950 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.49 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020474 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bmicc.cn/ontology/ICD10CN/E78.2 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI