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GENE - TERM ANNOTATION REPORT

RGD ID: 628825
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Enpp1
Name: ectonucleotide pyrophosphatase/phosphodiesterase 1
Acc ID: DOID:0050949
Term: autosomal recessive hypophosphatemic rickets
Definition: A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO)
Definition Source(s): http://www.omim.org/entry/241520?search=241520&highlight=241520 "DO" "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple "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)
Enpp1 ISOENPP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic Rickets, RecessivePMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:25741868 PMID:28492532 PMID:9662402
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