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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:0060387
Term: chondrodysplasia Blomstrand type
Definition: An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type "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: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand typePMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456
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