Details of Disease | DrugMAP

General Information of Disease (ID: DISX1F8T)

Disease Name	Contractures, pterygia, and variable skeletal fusions syndrome 1B
Synonyms	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
Disease Hierarchy	DISK8Z6W: Multiple pterygium syndrome DIS6GI3N: Contractures, pterygia, and variable skeletal fusions syndrome DISVK1D4: Autosomal recessive multiple pterygium syndrome DISX1F8T: Contractures, pterygia, and variable skeletal fusions syndrome 1B
Disease Identifiers	MONDO ID MONDO_0020746 UMLS CUI C5193114 OMIM ID 618469 MedGen ID 1676457

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
MYH3	OTOCCGEB	Strong	Autosomal recessive	[1]
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References

1	Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24.