Phenotypes associated with the disease mucocutaneous ulceration, chronic (OMIM:618287):
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: PCS. Frequency: 4/4. (PMID:28600438)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 0/4. (PMID:28600438)
- Ileitis (HP:0032564): Inflammation of the ileum. Evidence: PCS. Frequency: 1/4. (PMID:28600438)
- Vaginal mucosal ulceration (HP:0032565). Evidence: PCS. Frequency: 1/3. (PMID:28600438)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:28600438)