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Multiple traits required to import for CMDKP #2313

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jiyue1214 opened this issue Oct 30, 2024 · 0 comments
Open

Multiple traits required to import for CMDKP #2313

jiyue1214 opened this issue Oct 30, 2024 · 0 comments

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@jiyue1214
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While mapping the traits that CMDKP uses to EFO, I discovered some useful terms that could be beneficial to import from MONDO, HP, or GO. For certain EFO terms we already have, importing synonyms from the same terms in other ontology systems could enhance future searches.

Here are the details:

Import Type Term ID Term Label Synonyms Definition Suggested Parent Term x-refs Comments
import Peak aortic velocity aortic peak velocity (APV), peak of aortic outflow velocity (PAV), maximum aortic velocity, peak aortic blood flow velocity (from CMO_0001481) The maximum speed at which the blood flows through the aorta during the cardiac cycle, expressed as distance per unit of time (from CMO_0001481). heart function measurement, EFO_0004311 PMID: 38082205
import CHEBI_30813 (GO) decanoic acid Capric Acid A saturated medium-chain fatty acid with a 10-carbon backbone. Capric acid is found naturally in coconut and palm kernel oils, as well as in the milk of various mammals. (from NCIT Capric Acid NCIT:C68329) / unpublished data, details at source
import CHEBI_28875 (GO, HP) tetradecanoic acid Myristic Acid A saturated long-chain fatty acid with a 14-carbon backbone. Myristic acid is found naturally in palm oil, coconut oil, and butter fat. (from NCIT:C68393) / unpublished in CMDKP
import HP_0003611 Dyslipidemia Dyslipidemia A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins, and/or triglycerides (from NCIT_C80385). / PMID:33893285, ICD9CM-272 According to ICD9CM-272, it seems close to the trait syndromic dyslipidemia (MONDO_0015905).
import OBA_2045233 Pulmonary artery diameter / The diameter of a pulmonary artery. (from OBA_2045233) related traits: pulmonary artery strain measurement EFO_0021827 /
same trait, import syn from HP HP_0100660 Dyskinesia movement disorder A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. (from HP) / UN Should we add Dyskinesia as a synonym of movement disorder (EFO_0004280)?
same trait, import syn from Mondo MONDO_0015129 chronic primary adrenal insufficiency Autoimmune Addison's disease (and all other synonyms from MONDO_0015129) A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. / PMID:33574239 It seems MONDO_0015129 (chronic primary adrenal insufficiency) and Orphanet_101960 (Genetic chronic primary adrenal insufficiency) are the same term. However, MONDO_0015129 contains an explanation and is synonymous, which is more useful for searching.
same trait, import syn from NCIT NCIT_C74705 Nucleated Red Blood Cell Count Nucleated erythrocyte count, Nucleated RBC count, Nucleated Erythrocytes, Nucleated Red Blood Cell Count, Nucleated Red Blood Cells, RBCNUC The determination of the number of nucleated red blood cells present in a sample. (from NCIT_C74705) nucleated cell count, EFO_0803347 PMID: 36959364 Synonyms and import from NCIT_C74705 to EFO term.
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