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Summary Literature (0)
DOID:0080078 - hypophosphatemic nephrolithiasis/osteoporosis 2

Disease Ontology Definition:A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.

Synonyms:

Xenbase Genes : nherf1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012851 - hypophosphatemic nephrolithiasis/osteoporosis 2

MIM:
MIM:612287 - NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), hypophosphatemic nephrolithiasis/osteoporosis (is_a)