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Mondo Disease Ontology
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split term: acquired hyperprolactinemia MONDO:0024305 #7610

Closed kanems closed 1 month ago

kanems commented 4 months ago

Term to split: acquired hyperprolactinemia MONDO:0024305

Name for new terms: Note - when a term should be split, there should be 2+ new terms. Please list the new labels below. acquired hyperprolactinemia (DOID x-ref) Chiari-Frommel syndrome (MeSH D002640; UMLS - C0008043; SNOMEDCT -85039006)

List properties that should be moved to new term: Note- ORDO tends to represent the generic class. Most properties (such as synonyms and database cross references) will move to the generic term. Synonyms that end in "1", "2", etc. should move to subclass. (see above for X-refs for Chiari-Frommel syndrome) I think that MeSH D006966 is a better match to MONDO:0005804 rather than this 'acquired' form.

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sagehrke commented 4 months ago

Dear @kanems, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely, The Mondo Team

katiermullen commented 3 months ago

@kanems Thank you for requesting this split term.

I see that the term MONDO:0024305 acquired hyperprolactinemia has exact synonym Chiari-Frommel syndrome

And also MONDO:0043226 postpartum amenorrhea-galactorrhea syndrome has related synonym Chiari-Frommel syndrome with db-xrefs (SCTID:85039006 and MESH:D002640. This term is classified under familial hyperprolactinemia which may not be correct?

The definition of Chiari-Frommel syndrome from MeSH "A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING." MeSH D002640

Would it make sense to move MONDO:0043226 'postpartum amenorrhea-galactorrhea syndrome' to a child of 'acquired hyperprolactinemia', use the definition from MeSH, and remove the synonym 'Chiari-Frommel syndrome' from 'acquired hyperprolactinemia'?

Side note: Is MONDO:0023209 'galactorrhoea-hyperprolactinaemia' a 'familial hyperprolactinemia'?

kanems commented 3 months ago

Would it make sense to move MONDO:0043226 'postpartum amenorrhea-galactorrhea syndrome' to a child of 'acquired hyperprolactinemia', use the definition from MeSH, and remove the synonym 'Chiari-Frommel syndrome' from 'acquired hyperprolactinemia'?

I think Yes

SNOMED CT 85039006 treats postpartum amenorrhea-galactorrhea syndrome and Chiari-Frommel syndrome as synonyms, so I think MONDO:0043226 'postpartum amenorrhea-galactorrhea syndrome' should get exact synonym Chiari-Frommel syndrome (instead of related) and I agree that it should be removed from MONDO:0024305 acquired hyperprolactinemia . Based on SNOMED's hierarchy data (from UMLS metathesaurus) this disease post-partum but is also a grand-child of Hyperpituitarism SNOMEDCT_US/10649000 by way of Hyperprolactinemia SNOMEDCT_US/237662005 (The MeSH hierarchy doesn't suggest this is familial either)

Side note: Is MONDO:0023209 'galactorrhoea-hyperprolactinaemia' a 'familial hyperprolactinemia'?

I do not think so, I am also wondering if this is a pair of phenotypes rather than distinct condition? PubMed search suggests this is associate with pituitary dysfunction or response to medications. https://pubmed.ncbi.nlm.nih.gov/?term=Galactorrhea-Hyperprolactinemia . I think if Mondo keeps it, the literature supports it being acquired rather than familial. The MeSH term was created in 2010 to support a concept from Office of Rare Diseases Research (now GARD) and GARD doesn't have a term for this as of my search today. Suggests that this is not needed by other groups and I can open a request with MeSH and UMLS (CUI is C2930894) to review/merge/obsolete this term (whatever their process is), unless Mondo is going to keep this disease concept, in which case you can add the UMLS CUI as an exact match.

katiermullen commented 3 months ago

Discussed on curation call on 30 May 2024.

Plan to move: galactorrhoea-hyperprolactinaemia and postpartum amenorrhea-galactorrhea syndrome as children of acquired hyperprolactinaemia. They are incorrectly inferred as as familial due to an old OMIM x-ref stating that galactorrhea is inherited. Once this x-ref is removed, the terms should be classified correctly.

Plan to keep galactorrhoea-hyperprolactinaemia for now even though it may be more of a combination phenotype rather than a distinct disease. Will use the UMLS CUI C2930894 as an exact match as stated above.