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DO Term : hypophosphatemic nephrolithiasis/osteoporosis 2 [DOID:0080078] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.
  • synonyms:
  • 612287,
  • MESH:C567362,
  • OMIM:612287
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Disease

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Ontology

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