mucocutaneous ulceration, chronic
MONDO:0032659Mondo
Findings
No curated finding names mucocutaneous ulceration, chronic yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Oral ulcerHPOHP:0000155
- 4 of 4 reported patients
- Vaginal mucosal ulcerationHPOHP:0032565
- 1 of 3 reported patients · Female
- IleitisHPOHP:0032564
- 1 of 4 reported patients
- Recurrent infectionsHPOHP:0002719
- 0 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RELAHGNC:9955
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of