http://purl.bioontology.org/ontology/OMIM/300554

C1845168

Xp11.22

NPHL2

NPHL1

CLCK2

DENT1

CLCN5

http://purl.bioontology.org/ontology/OMIM/MTHU037545

http://purl.bioontology.org/ontology/OMIM/MTHU006650

http://purl.bioontology.org/ontology/OMIM/MTHU007102

http://purl.bioontology.org/ontology/OMIM/MTHU006328

http://purl.bioontology.org/ontology/OMIM/MTHU006333

http://purl.bioontology.org/ontology/OMIM/MTHU005829

http://purl.bioontology.org/ontology/OMIM/MTHU007357

http://purl.bioontology.org/ontology/OMIM/MTHU005592

http://purl.bioontology.org/ontology/OMIM/MTHU006330

http://purl.bioontology.org/ontology/OMIM/MTHU006649

http://purl.bioontology.org/ontology/OMIM/MTHU006653

http://purl.bioontology.org/ontology/OMIM/MTHU006326

http://purl.bioontology.org/ontology/OMIM/MTHU006325

http://purl.bioontology.org/ontology/OMIM/MTHU007105

http://purl.bioontology.org/ontology/OMIM/MTHU006645

http://purl.bioontology.org/ontology/OMIM/MTHU007103

http://purl.bioontology.org/ontology/OMIM/MTHU008188

http://purl.bioontology.org/ontology/OMIM/MTHU006324

http://purl.bioontology.org/ontology/OMIM/MTHU006329

http://purl.bioontology.org/ontology/OMIM/MTHU005834

http://purl.bioontology.org/ontology/OMIM/MTHU007104

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU006651

http://purl.bioontology.org/ontology/OMIM/MTHU006646

http://purl.bioontology.org/ontology/OMIM/MTHU007108

http://purl.bioontology.org/ontology/OMIM/MTHU001720

http://purl.bioontology.org/ontology/OMIM/MTHU008189

Phenotype description, molecular basis known.

300554

3

pound

HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE

Caused by mutation in the chloride channel 5 gene (CLCN5, 300008.0007) [MOLECULAR BASIS]

Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only [MISCELLANEOUS]

Part of 'Dent disease complex' (see 300009) [MISCELLANEOUS]

Variable phenotypic severity [MISCELLANEOUS]

T047