serpinopathy
MONDO:0027749Mondo
Findings
No curated finding names serpinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary disease by a qualitative or quantitative deficiencies or overexpression and/or abnormal accumulation of SERPIN; SERPINs are members of the serpin (serine proteinase inhibitors) superfamily which includes proteins with serine protease inhibitor activity and some that do not exhibit this inhibitory activity against serine proteases.
Definition from the Mondo Disease Ontology (MONDO:0027749), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of