Details of Disease

General Information of Disease (ID: DISLWE7I)

Disease Name Hypophosphatemic nephrolithiasis/osteoporosis 2
Synonyms nephrolithiasis/osteoporosis, hypophosphatemic, 2; NPHLOP2; hypophosphatemic nephrolithiasis/osteoporosis type 2; nephrolithiasis/osteoporosis, hypophosphatemic, type 2
Disease Hierarchy
DISXCFIW: Nephrolithiasis/osteoporosis, hypophosphatemic
DISNCQLA: Inherited kidney disorder
DISK7GAB: Kidney disease
DISLWE7I: Hypophosphatemic nephrolithiasis/osteoporosis 2
Disease Identifiers
MONDO ID
MONDO_0012851
MESH ID
C567362
UMLS CUI
C2676782
OMIM ID
612287
MedGen ID
394127

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NHERF1 OTFK8KDP Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.