Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/308990 http://purl.bioontology.org/ontology/OMIM/308990
Preferred Name	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
Gene Symbol	NPHL2 NPHL1 CLCK2 DENT1 CLCN5
Scope Statement	Part of 'Dent disease complex' (see 300009) [MISCELLANEOUS] Caused by mutation in the chloride channel 5 gene (CLCN5, 300008.0001) [MOLECULAR BASIS] Usually asymptomatic [MISCELLANEOUS] Slowly progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007102 http://purl.bioontology.org/ontology/OMIM/MTHU005829 http://purl.bioontology.org/ontology/OMIM/MTHU068164 http://purl.bioontology.org/ontology/OMIM/MTHU006653 http://purl.bioontology.org/ontology/OMIM/MTHU000661 http://purl.bioontology.org/ontology/OMIM/MTHU007376 http://purl.bioontology.org/ontology/OMIM/MTHU038007 http://purl.bioontology.org/ontology/OMIM/MTHU005834 http://purl.bioontology.org/ontology/OMIM/MTHU023216 http://purl.bioontology.org/ontology/OMIM/MTHU036802 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU007108 See more See less
tui	T047
Gene Locus	Xp11.22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	308990
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C1839874
OMIM Entry Type	3
OMIM MimType Value	pound

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