Phenotypes associated with the disease epidermolysis bullosa with congenital localized absence of skin and deformity of nails (OMIM:132000):
- Sub-lamina densa cleavage (HP:0033803): A type of blistering in which the cleavage plane of blisters is located below the lamina densa. Evidence: PCS. (PMID:8618021)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:8618021)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: PCS. (PMID:8618021)
- Congenital localized absence of skin (HP:0007383). Evidence: PCS. (PMID:8618021)
- 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: PCS. (PMID:8618021)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. (PMID:8618021)
- 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:8618021)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: PCS. (PMID:8618021)