Online Mendelian Inheritance in Man - PAGET DISEASE OF BONE 5, JUVENILE-ONSET - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/239000 http://purl.bioontology.org/ontology/OMIM/239000
Preferred Name	PAGET DISEASE OF BONE 5, JUVENILE-ONSET
Synonyms	PDB5 JPD HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS OSTEOECTASIA, FAMILIAL HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC JUVENILE PAGET DISEASE HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PDB5 JPD HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS OSTEOECTASIA, FAMILIAL HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC JUVENILE PAGET DISEASE HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC See more See less
prefLabel	PAGET DISEASE OF BONE 5, JUVENILE-ONSET
Gene Symbol	OPG TNFRSF11B PDB5 OCIF
Scope Statement	Variable severity [MISCELLANEOUS] Caused by mutation in the tumor necrosis factor receptor superfamily, member 11B gene (TNFRSF11B, 602643.0001) [MOLECULAR BASIS] Onset in first decade [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048959 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU007511 http://purl.bioontology.org/ontology/OMIM/MTHU017025 http://purl.bioontology.org/ontology/OMIM/MTHU010311 http://purl.bioontology.org/ontology/OMIM/MTHU018982 http://purl.bioontology.org/ontology/OMIM/MTHU048962 http://purl.bioontology.org/ontology/OMIM/MTHU048961 http://purl.bioontology.org/ontology/OMIM/MTHU048960 http://purl.bioontology.org/ontology/OMIM/MTHU048963 http://purl.bioontology.org/ontology/OMIM/MTHU005522 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU013555 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU021708 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU006646 http://purl.bioontology.org/ontology/OMIM/MTHU048958 See more See less
tui	T047
Gene Locus	8q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	239000
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0268414
OMIM Entry Type	3
OMIM MimType Value	pound

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