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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:0111818
Term: syndactyly type 4
Definition: A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17476456 "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)7240710OMIM  
Lmbr1 ISOLMBR1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Lmbr1 ISOLMBR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Syndactyly type 4PMID:18417549 PMID:1849351 PMID:19847792
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