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GENE - TERM ANNOTATION REPORT

RGD ID: 1616805
Species: Mus musculus
RGD Object: Gene
Symbol: Lmbr1
Name: limb region 1
Acc ID: DOID:0111564
Term: hypoplastic or aplastic tibia with polydactyly
Definition: A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19847792 "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: Tibia, hypoplasia or aplasia of, with polydactylyPMID:12837695 PMID:18156157 PMID:19847792 PMID:24777739 PMID:24965254 PMID:28492532 PMID:29651423 PMID:32169219 PMID:7726219 PMID:9950363
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