Van buchem disease, type 2

Preferred Label : Van buchem disease, type 2;

Obsolete resource : true;

Moved to : 144750;

CISMeF acronym : VBCH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : VBCH2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0015);

Laboratory abnormalities : Normal alkaline phosphatase;

Prefixed ID : 607636;

Details

Origin ID

607636;

UMLS CUI

C1843323;

Automatic exact mappings (from CISMeF team)
- Hyperostosis corticalis generalisata [ORDO Disease]
- LDL receptor related protein 5 [ORDO Gene]
- LRP5 wt Allele [NCIt concept]
- Van Buchem disease type 2 [MeSH concept]
- van buchem disease type 2 [MeSH Supplementary Concept]
DO Cross reference
- Worth syndrome [DO Concept]
ORDO concept(s)
- Hyperostosis corticalis generalisata [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van Buchem disease type 2 [MeSH concept]
- van buchem disease type 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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