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Metadata
ID DOID:0080078
Name hypophosphatemic nephrolithiasis/osteoporosis 2
Definition A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.
https://www.ncbi.nlm.nih.gov/pubmed/18784102, https://www.nejm.org/doi/full/10.1056/NEJMoa020028, https://pubmed.ncbi.nlm.nih.gov/31364377/
Xrefs

MESH:C567362

MIM:612287

Parent Relationships

is_a autosomal dominant disease

is_a hypophosphatemic nephrolithiasis/osteoporosis

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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