Human Gene Set: HP_INTRA_EPIDERMAL_BLISTERING


Standard name HP_INTRA_EPIDERMAL_BLISTERING
Systematic name M47304
Brief description Intra-epidermal blistering
Full description or abstract A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0033802
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0033802
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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