A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology. [ http://www.ncbi.nlm.nih.gov/pubmed/20301779 https://orcid.org/0009-0007-0138-2054 ]

Synonyms: ACD-related telomeropathy

This is just here as a test because I lose it

Term information

Subsets

gard_rare, rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/7605

id

MONDO:0800469