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GENE - TERM ANNOTATION REPORT

RGD ID: 9034969
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Hcfc1
Name: host cell factor C1
Acc ID: DOID:0050800
Term: cerebral creatine deficiency syndrome 1
Definition: A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO" "DO", https://www.omim.org/entry/300352 "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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