FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term hypophosphatemic nephrolithiasis/osteoporosis 2 ID (Ontology) DOID:0080078 (Human Disease)
Definition A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes
 hypophosphatemic nephrolithiasis/osteoporosis 2       2      1
 for disease ribbon | hypophosphatemic nephrolithiasis/osteoporosis 2       --       1
 model of | hypophosphatemic nephrolithiasis/osteoporosis 2       2      1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease_____________________
kidney disease                                     |
 |__hypophosphatemic nephrolithiasis/osteoporosis__|
                                                   hypophosphatemic nephrolithiasis/osteoporosis 2  3 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
hypophosphatemic nephrolithiasis/osteoporosis
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C567362
MIM:612287