Terminology Service for NFDI4Health
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cholesterol-ester transfer protein deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0007744

Term info

Label

cholesterol-ester transfer protein deficiency

Synonyms
  • CEPT deficiency
  • familial hyperalphalipoproteinemia
  • high density lipoprotein cholesterol level QTL 10
  • hyperalphalipoproteinemia type 1
database cross reference
Subsets

ordo_disease

exactMatch

http://linkedlifedata.com/resource/umls/id/C3875011, https://omim.org/entry/143470, http://purl.obolibrary.org/obo/Orphanet_79506, http://identifiers.org/snomedct/15771000119109, http://linkedlifedata.com/resource/umls/id/CN205999, http://purl.obolibrary.org/obo/DOID_0111368

has broad synonym

hyperalphalipoproteinemia

has related synonym

HALP1, CETP deficiency, hyperalphalipoproteinemia 1, cholesterol ester transfer Protein deficiency, Hdlcq10, high density lipoprotein cholesterol level quantitative trait locus 10

id

MONDO:0007744

narrowMatch

https://icd.codes/icd10cm/E78.4

see also

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