Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	VAN BUCHEM DISEASE
Synonyms	VBCH
ID	http://purl.bioontology.org/ontology/OMIM/239100
altLabel	VBCH HYPEROSTOSIS CORTICALIS GENERALISATA ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE HYPERPHOSPHATASEMIA TARDA
cui	C0432272
Gene Locus	17q21.31
Gene Symbol	VBCH
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	239100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	VAN BUCHEM DISEASE
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D010009	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-95252	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D010009	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X78Ba	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/59763006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/59763006	SCTSPA	CUI
http://identifiers.org/omim/239100	REXO	LOOM
http://identifiers.org/omim/239100	GEXO	LOOM
http://identifiers.org/omim/239100	RETO	LOOM
http://purl.bioontology.org/ontology/RCD/X78Ba	RCD	LOOM
http://purl.obolibrary.org/obo/OMIM_239100	CCO	LOOM