Online Mendelian Inheritance in Man - VAN BUCHEM DISEASE, TYPE 2 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	VAN BUCHEM DISEASE, TYPE 2
Synonyms	VBCH2
ID	http://purl.bioontology.org/ontology/OMIM/607636
altLabel	VBCH2
cui	C1843323
Gene Locus	11q13.4
Gene Symbol	OPTA1 BMND1 EVR4 OPPG LR3 VBCH2 LRP5 LRP7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002959 http://purl.bioontology.org/ontology/OMIM/MTHU002960 http://purl.bioontology.org/ontology/OMIM/MTHU002962 http://purl.bioontology.org/ontology/OMIM/MTHU029669 http://purl.bioontology.org/ontology/OMIM/MTHU029670 http://purl.bioontology.org/ontology/OMIM/MTHU002958 http://purl.bioontology.org/ontology/OMIM/MTHU002961
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607636
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	VAN BUCHEM DISEASE, TYPE 2
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536527	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C536527	Medical Subject Headings	LOOM