Details of Disease | DrugMAP

General Information of Disease (ID: DISRJWLL)

Disease Name	TRPV4-related bone disorder
Synonyms	TRPV4-related skeletal dysplasia
Disease Hierarchy	DIS5Z8U6: Skeletal dysplasia DISRJWLL: TRPV4-related bone disorder
Disease Identifiers	MONDO ID MONDO_0018240 UMLS CUI C5680977 MedGen ID 1842686 Orphanet ID 364820

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	TTKP2SU	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	OTPZKQLX	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.