katiermullen
commented
2 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
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