[NTR/gene] DNAJC21-related bone marrow failure syndrome

[keparis]

Preferred gene-related syndrome label
DNAJC21-related bone marrow failure syndrome

Synonyms

Parent term (use OLS, or your favorite ontology browser)
MONDO:0014887

Definition
DNAJC21-related bone marrow failure syndrome is an autosomal recessive condition associated with clinical features characteristic of bone marrow failure and Shwachman-Diamond syndome.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
[https://clinicalgenome.org/affiliation/40157/]

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

Your nano-attribution (ORCID) or URL for a working group
https://orcid.org/0009-0004-3069-7846

[nicolevasilevsky]

Hi @keparis I think the term you are requesting is the same as MONDO:0014887 'bone marrow failure syndrome 3'

I can add this as a synonym.

Let me know what you think, thanks!

[keparis]

Hi @nicolevasilevsky yes, adding this name as a synonym would be great. Thank you!