Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

HYPOALPHALIPOPROTEINEMIA, PRIMARY

Synonyms

FAMILIAL HDL DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/604091

altLabel

FAMILIAL HDL DEFICIENCY

HIGH DENSITY LIPOPROTEIN DEFICIENCY

HYPOALPHALIPOPROTEINEMIA, FAMILIAL

HDL CHOLESTEROL, LOW SERUM

FHD

FHA

HDLD

HDLC

cui

C1704429

C2931838

C3165209

Gene Locus

9q22-q31

Gene Symbol

ABC1

HDLDT1

TGD

ABCA1

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

604091

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPOALPHALIPOPROTEINEMIA, PRIMARY

tui

T047

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http://purl.bioontology.org/ontology/MESH/D052456 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.6 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C538394 Medical Subject Headings CUI