Details of Disease

General Information of Disease (ID: DIS2KD4T)

Disease Name Lethal congenital contracture syndrome 9
Synonyms
LCCS9; lethal congenital contracture syndrome caused by mutation in ADGRG6; lethal congenital contracture syndrome 9; lethal congenital contracture syndrome type 9; ADGRG6 lethal congenital contracture syndrome
Definition Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
Disease Hierarchy
DIS489GT: Lethal congenital contracture syndrome
DIS2KD4T: Lethal congenital contracture syndrome 9
Disease Identifiers
MONDO ID
MONDO_0014670
UMLS CUI
C4225303
OMIM ID
616503
MedGen ID
903881

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
ADGRG6 OTY2UBXO Definitive Autosomal recessive [1]
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References

1 Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. Am J Hum Genet. 2015 Jun 4;96(6):955-61. doi: 10.1016/j.ajhg.2015.04.014. Epub 2015 May 21.