Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/211800 http://purl.bioontology.org/ontology/OMIM/211800
Preferred Name	CALCIFICATION OF JOINTS AND ARTERIES
Synonyms	ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 ACDC CALJA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 ACDC CALJA
prefLabel	CALCIFICATION OF JOINTS AND ARTERIES
Gene Symbol	NT5 NT5E
Scope Statement	Caused by mutation in the ecto-5-prime nucleotidase gene (NT5E, 129190.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU031773 http://purl.bioontology.org/ontology/OMIM/MTHU031770 http://purl.bioontology.org/ontology/OMIM/MTHU031771 http://purl.bioontology.org/ontology/OMIM/MTHU031765 http://purl.bioontology.org/ontology/OMIM/MTHU067514 http://purl.bioontology.org/ontology/OMIM/MTHU067517 http://purl.bioontology.org/ontology/OMIM/MTHU031767 http://purl.bioontology.org/ontology/OMIM/MTHU031764 http://purl.bioontology.org/ontology/OMIM/MTHU015862 http://purl.bioontology.org/ontology/OMIM/MTHU067516 http://purl.bioontology.org/ontology/OMIM/MTHU031763 http://purl.bioontology.org/ontology/OMIM/MTHU031762 http://purl.bioontology.org/ontology/OMIM/MTHU031759 http://purl.bioontology.org/ontology/OMIM/MTHU031766 http://purl.bioontology.org/ontology/OMIM/MTHU031760 http://purl.bioontology.org/ontology/OMIM/MTHU067515 See more See less
tui	T047
Gene Locus	6q14-q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	211800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1859372
OMIM Entry Type	3
OMIM MimType Value	pound

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