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GENE - TERM ANNOTATION REPORT

RGD ID: 3442
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pth1r
Name: parathyroid hormone 1 receptor
Acc ID: DOID:0080020
Term: Jansen's metaphyseal chondrodysplasia
Definition: A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia "DO" "DO", http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype "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)
Pth1r ISOPTH1R (Homo sapiens)7240710OMIM  
Pth1r ISOPTH1R (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pth1r ISOPTH1R (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Metaphyseal chondrodysplasia Murk Jansen type | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen typePMID:10487664 PMID:17576681 PMID:18559376 PMID:22278430 PMID:25741868 PMID:28492532 PMID:7701349 PMID:8076140 PMID:8703170 PMID:9536098
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