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GENE - TERM ANNOTATION REPORT

RGD ID: 1353171
Species: Homo sapiens
RGD Object: Gene
Symbol: KRT17
Name: keratin 17
Acc ID: DOID:2121
Term: ectodermal dysplasia
Definition: A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Ectodermal_dysplasia "DO" "DO", https://medlineplus.gov/ency/article/001469.htm "DO" "DO", https://www.omim.org/entry/305100 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
KRT17susceptibilityIAGP 1600184RGDprotein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 
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