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Standard terms for annotating mammalian phenotypic data
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Review miotic pupils #3766

Closed anna-anagnostop closed 1 year ago

anna-anagnostop commented 1 year ago

Existing MP term: miotic pupils MP:0002003 Current definition: contraction of the pupils Current synonyms: abnormal pupil constriction | meiotic pupils | myotic pupils

MP:0002003 is currently under abnormal pupil morphology.

The HPO term Miosis HP:0000616 is defined as "Abnormal (non-physiological) constriction of the pupil." and placed under physiology (Abnormal pupillary function).

Both the MP and HPO term use the same EQ i.e., abnormalConstrictionOfAnatomicalEntity pattern using PATO term constricted PATO:0001847 (which is under morphology).

If the intent of the HPO term is to describe the process that results in miotic pupils (i.e. there is a problem with the iris sphincter muscles or the nerves that control them) and not the morphological endpoint, then the HPO EQ should use something like excessive muscle contraction and located in the iris.

  1. Consider modifying MP:0002003 definition based on opposite MP term (mydriasis MP:0002546) to read as “decreased diameter of one or both central circular aperture of the iris through which light rays enter the eye” Comment: Miosis is a condition in which the pupils of the eyes are always too small, whether in light or dark. Pupils are considered abnormal if they do not dilate in the dark and if they do not constrict in brightly lit conditions. https://myvision.org/eye-conditions/miosis/

  2. Place MP:0002003 under small pupils MP:0001320 Add new synonyms: pinpoint pupils (narrow)| pupillary miosis (exact) | constricted pupils (exact) | pupillary constriction (exact)

Check annotations to small pupils MP:0001320 Check annotations to miotic pupils MP:0002003 Check annotations to abnormal pupillary reflex MP:0002638

sbello commented 1 year ago

To distinguish miotic pupils from small pupils we need to include the cause of the phenotype in the definition, miotic pupils are small as a result of constriction of the muscles in the iris not because the maximal diameter of the pupil is smaller.

This page https://www.webmd.com/eye-health/eye_miosis_facts has the following: "When your pupil shrinks (constricts), it's called miosis. If your pupils stay small even in dim light, it can be a sign that things in your eye aren't working the way they should. This is called abnormal miosis, and it can happen in one or both of your eyes." Which would suggest that the HPO term may have an incorrect label, as may the MP term.

Although most sites seem to call miosis an abnormal condition, so we can probably ignore the outlier https://myvision.org/eye-conditions/miosis/ https://www.allaboutvision.com/conditions/miosis/ https://my.clevelandclinic.org/health/symptoms/23575-eye-miosis

sbello commented 1 year ago

"decreased diameter of one or both pupils due to abnormal constriction of the muscles of the iris ”

sbello commented 1 year ago

need to make miotic pupils and small pupils singular for the primary label