Visualize Submit Comment
Metadata
ID DOID:0080077
Name hypophosphatemic nephrolithiasis/osteoporosis 1
Definition A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
https://www.ncbi.nlm.nih.gov/pubmed/12324554
Xrefs

MESH:C567363

MIM:612286

Parent Relationships

is_a hypophosphatemic nephrolithiasis/osteoporosis

is_a autosomal dominant disease

Add an item to the term tracker