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DO Term : hypophosphatemic nephrolithiasis/osteoporosis 1 [DOID:0080077] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
  • synonyms:
  • OMIM:612286,
  • MESH:C567363,
  • 612286
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