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GENE - TERM ANNOTATION REPORT

RGD ID: 14053021
Species: Sus scrofa
RGD Object: Gene
Symbol: IHH
Name: Indian hedgehog signaling molecule
Acc ID: DOID:0110964
Term: brachydactyly type A1
Definition: A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12525541 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/14043746 "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)
IHH ISOIHH (Homo sapiens)7240710OMIM  
IHH ISOIHH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: IHH-related conditionPMID:11455389 PMID:12384778 PMID:12525541 PMID:12566523 PMID:14043746 PMID:15886999 PMID:16871364 PMID:17486609 PMID:18794898 PMID:19252479 PMID:19277064 PMID:25741868 PMID:28492532 PMID:35846898
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