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GENE - TERM ANNOTATION REPORT

RGD ID: 18623364
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: COL7A1
Name: collagen type VII alpha 1 chain
Acc ID: DOID:0080082
Term: nonsyndromic congenital nail disorder 4
Definition: A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/anonychia-congenita "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/26149975/ "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.
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