Phenotypes associated with the disease pemphigus vulgaris (OMIM:169610):
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. (OMIM:169610)
- Autoimmune antibody positivity (HP:0030057): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. (OMIM:169610)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. (OMIM:169610)
- 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: TAS. (OMIM:169610)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: TAS. (OMIM:169610)