early-onset pulmonary and cutaneous vasculitis
MONDO:0800137Mondo
Findings
No curated finding names early-onset pulmonary and cutaneous vasculitis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.
Definition from the Mondo Disease Ontology (MONDO:0800137), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of