pseudohypoaldosteronism type 1/I MONDO:0957319 & MONDO:0019161 [Merge]

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Mondo Disease Ontology

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pseudohypoaldosteronism type 1/I MONDO:0957319 & MONDO:0019161 [Merge] #7273

Closed kanems closed 3 months ago

kanems commented 9 months ago

Mondo term (ID and Label) MONDO:0957319, pseudohypoaldosteronism, type I

Reason for deprecation I think these may be the same? The Orphanet mappings only partially overlap with the OMIM PS, but maybe that's a gap in the Orpha mappings and the other OMIM records? But Type "1" vs "I" usually ends up being the same concept in many other cases I've curated/aligned between various sources.

Term to be merged with MONDO:0019161, pseudohypoaldosteronism type 1 Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here

katiermullen commented 7 months ago

MONDO:0957319, pseudohypoaldosteronism, type I maps to the OMIM PS in which there are 4 entries:

PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE; PHA1B1 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE; PHA1B3 PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE; PHA1B2

I wonder if MONDO:0957319, pseudohypoaldosteronism, type I should be merged with MONDO:0019161, pseudohypoaldosteronism type 1

And if: NCIT:C123251 should be mapped to MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1?

I also wonder if MONDO:0019161, pseudohypoaldosteronism type 1 should have all of the children in the OMIM PS?

Currently the only children of MONDO:0019161 are:

MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1

kanems commented 4 months ago

@katiermullen and @sabrinatoro any updates on this request? Do we need to reach out to Julie at Orphanet to get clarification about the scope of their term?

katiermullen commented 4 months ago

@kanems Thank you for your question. I think that clarification of the Orphanet term would help in aligning the orpha and OMIM mappings.

sabrinatoro commented 4 months ago

I agree with Katie, we should follow up with orphanet, but I think they will (should) update their mappings. I see that the orphanet term was last updated in 2021, while the omim terms were updated in 2023/2024. So I imagine they are currently out of synch, but we should still reach out and clarify. Thank you for doing this @kanems I think that the other 2 new terms in

sabrinatoro commented 3 months ago

I agree with the merge. Based on the definition, I believe that Orphanet:756 represents the same grouping concept as OMIMPS:177735 (though orphanet:756 needs to be updated to show all 3 version of the autosomal recessive diseases). Therefore I am merging MONDO:0957319 into MONDO:0019161. In addition:

changing the name of MONDO:0009917 to reflect the latest information available in OMIM:264350. New name PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE; PHA1B1. Also reviewing the synonyms and making sure that the x-ref are correct
updating the classification to show as in the previous comment
note that based on its definition, DOID:0060854 would refer to a (not in Mondo) grouping term for recessive type 1. I updated the “source” information for this x-ref to refer this.