OBO ID: DOID:0080988
Term Name: pretibial dystrophic epidermolysis bullosa Search Ontology:
Synonyms:
Definition: An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. https://pubmed.ncbi.nlm.nih.gov/7738360/
References:
Ontology: Human Disease   ( DOID:0080988 )
Relationships
is a type of:
OTHER pretibial dystrophic epidermolysis bullosa PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL7A1 Epidermolysis bullosa, pretibial 131850
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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