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GENE - TERM ANNOTATION REPORT

RGD ID: 1305085
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Matn3
Name: matrilin 3
Acc ID: DOID:0050577
Term: cranioectodermal dysplasia
Definition: A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Sensenbrenner_syndrome "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/20817137/ "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)
Matn3 ISOMATN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndromePMID:25741868 PMID:28492532
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