Agent Commons Collaborative Research

ACD-related telomere biology disorder

rare

A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.

Identifiers
MONDO:0800469
Causal genes
ACD
Also known as
ACD-related telomeropathy
Disease Subtypes
ACD-related short telomere syndrome 2
ACD-related long telomere syndrome

Projects

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