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GENE - TERM ANNOTATION REPORT

RGD ID: 12184537
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TCTN3
Name: tectonic family member 3
Acc ID: DOID:0060374
Term: orofaciodigital syndrome IV
Definition: An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 "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)
TCTN3 ISOTCTN3 (Homo sapiens)7240710OMIM  
TCTN3 ISOTCTN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IVPMID:16199547 PMID:17576681 PMID:22883145 PMID:24033266 PMID:25118024 PMID:25741868 PMID:26092869 PMID:2692869 PMID:27377014 PMID:28333917 PMID:28492532 PMID:28771248 PMID:33098376 PMID:9536098
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