Experimental Factor Ontology

Last uploaded: August 15, 2024
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Preferred Name

hypoalphalipoproteinemia, primary, 1
Synonyms

high density lipoprotein deficiency

HDL cholesterol, Low serum

familial HDL deficiency

hypoalphalipoproteinemia, primary

FHA

FHD

HDLD

hypoalphalipoproteinemia, familial

HDL deficiency, familial, 1
Definitions

Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.
ID

http://purl.obolibrary.org/obo/MONDO_0011393
database_cross_reference

UMLS:C5231558

DOID:0080957

MEDGEN:1684828

OMIM:604091
definition

Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.
exactMatch

https://omim.org/entry/604091

http://identifiers.org/medgen/1684828

http://purl.obolibrary.org/obo/DOID_0080957

http://linkedlifedata.com/resource/umls/id/C5231558
has_exact_synonym

hypoalphalipoproteinemia, familial

HDL deficiency, familial, 1
has_related_synonym

high density lipoprotein deficiency

HDL cholesterol, Low serum

familial HDL deficiency

hypoalphalipoproteinemia, primary

FHA

FHD

HDLD
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6750

https://github.com/monarch-initiative/mondo/issues/4521
id

MONDO:0011393
in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare
label

hypoalphalipoproteinemia, primary, 1
notation

MONDO:0011393
preferred label

hypoalphalipoproteinemia, primary, 1
prefLabel

hypoalphalipoproteinemia, primary, 1
subClassOf

http://purl.obolibrary.org/obo/MONDO_0017773

http://purl.obolibrary.org/obo/MONDO_0019052
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