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GENE - TERM ANNOTATION REPORT

RGD ID: 620851
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Npr2
Name: natriuretic peptide receptor 2
Acc ID: DOID:0070316
Term: Miura type epiphyseal chondrodysplasia
Definition: A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24057292 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24259409 "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)
Npr2 ISONPR2 (Homo sapiens)7240710OMIM  
Npr2 ISONPR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epiphyseal chondrodysplasia, miura type | ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndromePMID:15146390 PMID:15572448 PMID:16384845 PMID:17576681 PMID:22691581 PMID:22870295 PMID:23827346 PMID:24001744 PMID:24057292 PMID:24259409 PMID:24471569 PMID:25387261 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26349192 PMID:26567084 PMID:26633542 PMID:27994189 PMID:28492532 PMID:30359775 PMID:30544148 PMID:30602027 PMID:30622824 PMID:31990356 PMID:32282051 PMID:32720985 PMID:33288834 PMID:34006472 PMID:35368703 PMID:9536098
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