Details of Disease

General Information of Disease (ID: DISVECXQ)

Disease Name Sclerosteosis 2
Synonyms sclerosteosis caused by mutation in LRP4; sclerosteosis type 2; SOST2; LRP4 sclerosteosis; sclerosteosis 2
Definition Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.
Disease Hierarchy
DISB8RTM: Sclerosteosis
DISVECXQ: Sclerosteosis 2
Disease Identifiers
MONDO ID
MONDO_0013679
UMLS CUI
C3280402
OMIM ID
614305
MedGen ID
482032

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRP4 OTO4M459 Limited Semidominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.