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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Error in textual definition and parentage of Joint contracture #10522

Closed LCCarmody closed 6 days ago

LCCarmody commented 1 month ago

HPO term HP_0034392 Joint contracture

Suggested revision of textual definition Current def: A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.

Change to: A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.

ALSO: need to to REMOVE 'Abnormal skeletal muscle morphology', 'Abnormal tendon morphology', and 'Abnormality of connective tissue' as parents BECAUSE it breaks the ALWAYS TRUE rule as sometimes one of those 3 things are not involved. Also, of note, 'Joint hypermobility' (HP_0001382) only has 'Abnormality of joint mobility' as a parent and not the other 3. Tagging @katiemullen

pnrobinson commented 1 month ago

Changed the definition. I do think that the "always" is justified, since a contracture by definition changes all of the named parts to some degree or other? Do you have a counterexample?

LCCarmody commented 1 month ago

I think that we agree that contractures can lead to problems in all, but some burns that lead to contractures and muscle contractures start out as a deficit in one area and then lead to issues in tendons, muscles, etc. So the definition (and hierarchy) as stated is not always true if seen early.

pnrobinson commented 6 days ago

@LCCarmody I am not really sure what the best revision is. Clinically, I do not think people would diagnosis "Contracture" at a very early state and by the time we get to a clinical contracture, surely all three organs are affected. I do not think this is a large mistake but it is something we should revisit whenever we do a workshop. We can also ask the contracture group.