Syn. on MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
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Mondo term (ID Label)
MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
Bug/Typo/Error description
The synonym of "hyperzincemia and hypercalprotectinemia" is now an alt name on OMIM 601979
Questions: I do not know if Orpha 251523 ( http://www.orpha.net/ORDO/Orphanet_251523 ) should be checked for mapping to this OMIM 601979 updated record, too?
Should this Mondo entry merge with MONDO:0011174 http://purl.obolibrary.org/obo/MONDO_0011174 ?
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@kanems thank you for pointing out this issue!
I agree with your interpretation that MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome should be merged into MONDO:0011174 'hyperzincemia with functional zinc depletion' based on the OMIM naming and the db-xref for MONDO:0016676 (Orpha 251523) indicates the same gene mutation, PSTPIP1 gene as the term MONDO:0011174.
Will add to the merge/obsoletion list. Thank you!