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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)
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unpublished in CMDKP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.
The text was updated successfully, but these errors were encountered:
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:
The text was updated successfully, but these errors were encountered: