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GENE - TERM ANNOTATION REPORT

RGD ID: 18930348
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Npr3
Name: natriuretic peptide receptor 3
Acc ID: DOID:9002060
Term: BOUDIN-MORTIER SYNDROME
Definition: This is a disease characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses.
Definition Source(s): MIM:619543
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)
Npr3 ISONPR3 (Homo sapiens)7240710OMIM  
Npr3 ISONPR3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Boudin-Mortier syndromePMID:24559625 PMID:25741868 PMID:30032985
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