Search Ontology:
Human Disease
keratosis palmoplantaris striata 1
- Term ID
- DOID:0081108
- Synonyms
-
- Definition
- A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/29934816/
- References
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- GARD:9172
- MESH:C536162
- MIM:148700
- ORDO:369999
- ORDO:370002
- Ontology
- Human Disease ( DOID:0081108 )
- is a type of
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Genes Involved
Zebrafish Models