Possibly invalid OMIM IDs in some phenopackets

[hansenp]

I found the OMIM ID OMIM:162001 and OMIM:162002 in the following phenopackets (version 0.1.24):

UMOD/PMID_14531790_F739individualI-1.json
UMOD/PMID_14569098_F1individual4.json
UMOD/PMID_14569098_F1individual8.json
UMOD/PMID_14569098_F2individual3.json
UMOD/PMID_14569098_F2individual7.json
UMOD/PMID_14569098_F4individual1.json
UMOD/PMID_14569098_F7individual1.json
UMOD/PMID_14569098_F9individual3.json
UMOD/PMID_14569098_F9individual7.json
UMOD/PMID_17245395_FamilyA214II-1.json
UMOD/PMID_17245395_FamilyK7individualI-1.json
UMOD/PMID_18950917_father.json
UMOD/PMID_14531790_F524individualII-4.json
UMOD/PMID_14569098_F1individual3.json
UMOD/PMID_14569098_F1individual7.json
UMOD/PMID_14569098_F2individual2.json
UMOD/PMID_14569098_F2individual6.json
UMOD/PMID_14569098_F3individual3.json
UMOD/PMID_14569098_F6individual1.json
UMOD/PMID_14569098_F9individual2.json
UMOD/PMID_14569098_F9individual6.json
UMOD/PMID_17245395_FamilyA214I-1.json
UMOD/PMID_17245395_FamilyF739individualII-2.json

It seems that these IDs do not exist in the OMIM database or in HPOA. The references provided in the phenopackets above (PMID:14531790, PMID:14569098, PMID:17245395, PMID:18950917) suggest that the correct OMIM ID is OMIM:162000. Please check and correct if necessary.

[ielis]

The same applies to OMIM:601674 which is present in EZH1 phenopackets, such as notebooks/EZH1/phenopackets/PMID_37433783_P2.json.

EZH1 is not yet associated with a phenotype entry.

[pnrobinson]

There was no other way to curate EZH1 -- there is a clear disease but no OMIM entry yet, so I used the gene entry. I fixed the other OMIM ids. I will leave this open so that we remember to check OMIM for updates on EZH1 once in a while. This is the publication. https://www.nature.com/articles/s41467-023-39645-5