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GENE - TERM ANNOTATION REPORT

RGD ID: 13886405
Species: Sus scrofa
RGD Object: Gene
Symbol: FZD4
Name: frizzled class receptor 4
Acc ID: DOID:0060844
Term: Norrie disease
Definition: A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1303235 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/13998843 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7627181 "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)
FZD4 ISOFZD4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fetal iritis syndromePMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129
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