Search Ontology:
Human Disease
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Term ID
- DOID:0112012
- Synonyms
-
- OLMSX
- X-linked Olmsted syndrome
- Definition
- A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. (2)
- References
- Ontology
- Human Disease ( DOID:0112012 )
- is a type of
Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
MBTPS2 | ?Olmsted syndrome, X-linked | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | 300918 |
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Zebrafish Models
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