ACD-related short telomere syndrome
A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.
MONDO:0800469
ACD-related telomere biology disorder
is_a
SPAC6F6.16c