ClinGen request to relabel MONDO:0014391

[justyneross]

Mondo term (ID and Label):
MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency

Suggested new label:
CTPS1 related combined immunodeficiency

Your nano-attribution (ORCID)
https://orcid.org/0000-0002-7437-8060

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
Patient description can be reviewed in PMID: 24870241 as a combined immunodeficiency, not a severe combined immunodeficiency. The ClinGen Primary Immune Regulatory Disorders GCEP therefore requests the update to the label to remove "severe."

[sabrinatoro]

@yshwetar reviewing this issue, I think it is more than a synonym/relabel.
Please read the PMID, and check whether we should also re-classify this term.