awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
Graphs
1
Q42128422-2329CE60-3C2C-4F5A-86D7-0083C2AA66F6
Q42128422-2329CE60-3C2C-4F5A-86D7-0083C2AA66F6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42128422-2329CE60-3C2C-4F5A-86D7-0083C2AA66F6
A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
P2860
Q42128422-2329CE60-3C2C-4F5A-86D7-0083C2AA66F6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42128422-2329CE60-3C2C-4F5A-86D7-0083C2AA66F6
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
77a1ce03dff13aac8c0ebf76a9dec8bd14970be2
P2860
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.