Phenotypes associated with the disease epidermolysis bullosa, junctional 5A, intermediate (OMIM:619816):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:10792571;PMID:12485428)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: PCS. Frequency: 1/2. (PMID:10792571;PMID:12485428)
- Lamina lucida cleavage (HP:0003341): The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. Evidence: PCS. Frequency: 1/1. (PMID:10792571)
- Alopecia of scalp (HP:0002293). Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:10792571)
- Alopecia of scalp (HP:0002293). Evidence: PCS. Frequency: 0/1. (PMID:12485428)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: PCS. Frequency: 1/1. (PMID:12485428)
- 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. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:10792571)
- 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. Frequency: 1/1. (PMID:12485428)
- Urethral stenosis (HP:0008661): Abnormal narrowing of the urethra. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:10792571)
- Onycholysis of distal fingernails (HP:0008400): Detachment of the distal fingernails from the nail bed. Evidence: PCS. Frequency: 1/1. (PMID:12485428)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10792571)
- 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. Frequency: 1/1. (PMID:10792571)
- Premature loss of permanent teeth (HP:0006357): Premature loss of the permanent teeth. Evidence: PCS. Frequency: 1/1. Onset: Young adult onset (HP:0011462). (PMID:10792571)
- Absent pubic hair (HP:0002555): Absence of pubic hair. Evidence: PCS. Frequency: 1/2. (PMID:10792571;PMID:12485428)
- Stratum basale cleavage (HP:0034193): Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. Evidence: PCS. Frequency: 1/1. (PMID:12485428)
- 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. Frequency: 2/2. (PMID:10792571;PMID:12485428)