Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/612287 http://purl.bioontology.org/ontology/OMIM/612287
Preferred Name	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
Synonyms	NPHLOP2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NPHLOP2
prefLabel	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
Gene Symbol	NHERF1 SLC9A3R1 EBP50 NPHLOP2
Scope Statement	Caused by mutation in the solute carrier family 9, isoform A3, regulatory factor 1 gene (SLC9A3R1, 604990.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU021387 http://purl.bioontology.org/ontology/OMIM/MTHU021386 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU006653 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU007103 http://purl.bioontology.org/ontology/OMIM/MTHU021388 http://purl.bioontology.org/ontology/OMIM/MTHU008654 http://purl.bioontology.org/ontology/OMIM/MTHU007493 See more See less
tui	T047
Gene Locus	17q25.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612287
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2676782
OMIM Entry Type	3
OMIM MimType Value	pound

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