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GENE - TERM ANNOTATION REPORT

RGD ID: 18927302
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: C2cd3
Name: C2 domain containing 3 centriole elongation regulator
Acc ID: DOID:0060958
Term: orofaciodigital syndrome XIV
Definition: An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO)
Definition Source(s): PMID:24997988 "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)
C2cd3 ISOC2CD3 (Homo sapiens)7240710OMIM  
C2cd3 ISOC2CD3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xivPMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 PMID:26092869 PMID:26477546 PMID:28492532 PMID:30097616 PMID:9536098
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