Phenotypes associated with the disease epidermolysis bullosa simplex 5A, Ogna type (OMIM:131950):
- Skin fragility with non-scarring blistering (HP:0007585). Evidence: IEA. (OMIM:131950)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: IEA. (OMIM:131950)
- Onychogryphosis of toenails (HP:0008401): Thickened toenails. Evidence: IEA. (OMIM:131950)
- 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: IEA. (OMIM:131950)
- Hypoplastic dermoepidermal hemidesmosomes (HP:0020117): Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. Evidence: PCS. (PMID:11851880)