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GENE - TERM ANNOTATION REPORT

RGD ID: 1563910
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lmbr1
Name: limb development membrane protein 1
Acc ID: DOID:0060986
Term: preaxial polydactyly II
Definition: A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/8012392/ "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)
Lmbr1 ISOLMBR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Polydactyly of a triphalangeal thumbPMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 PMID:38233525 PMID:8012392
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