Brachyolmia type 3

Disease ID:157
Name:Brachyolmia type 3
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Autosomal dominant brachyolmia | Brachyolmia
Database Links
Disease Ontology: DOID:0050690
OMIM: 113500
Orphanet: ORPHA93304

Targets

TRPV4
Mutations:  TRPV4 is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Brachyolmia type 3

References

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1. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R et al.. (2008) Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat. Genet., 40 (8): 999-1003. [PMID:18587396]