human-phenotype-ontology
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obophenotype
Ontology for the description of human clinical features
**Preferred term label:** Diminished enzyme activity of galactocerebrosidase. PMID: 34015306 Comment: Reduced galactocerebrosidase activity is a feature of Krabbe disease. **Synonyms** **Definition (free text, please give PubMed ID)** **Parent term...
The INCLUDE DCC (cc @lopierra) needs to annotate clinical data with Perimenopause and postmenopause. Would these be appropriate terms for HPO? I wasn't sure, as these are normal biological processes.
**Preferred term label:** Trichoschisis broken or split hairs. Alternating light and dark bands called 'tiger-tail banding', in the hair shaft, found by polarised light microscopy or trichoscopy. Is this a...
**HPO term** HP:0012071 **Bug description** It seems there is conflation of the general term acylcarnitine and the specific compound acetylcarnitine, the C2 form (see Mayo listing at https://neurology.testcatalog.org/show/ACRN ). It...
**HPO term** HP:0034152 and HP:0033029 **Reason for deprecation** HP:0034152 seems the same as HP:0033029, and UMLS only includes HP:0033029 **Suggested replacement or term to consider** Merge into HP:0033029
Working with @pnrobinson on mapping from OMOP condition concept ids to the corresponding HPO terms, the following OMOP condition codes did not have a good match in the HPO hierarchy....
**HPO term** https://hpo.jax.org/app/browse/term/HP:0001278 **Synonym to be added** Postural Orthostatic Tachycardia Syndrome POTS **broad/exact/narrow/plural/abbreviation ?** Exact
Looking at the Abnormal skeletal morphology (HP:0011842) branch I notice several child terms where there are both abnormality of X and abnormal morphology of X are present. See image for...
**HPO term** HP:0007183 and HP:0031206 **Suggested revision and reasons** HP:0007183 seems like a child of HP:0007183 but not so linked
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Ontology for the description of human clinical features