Details of Disease | DrugMAP

General Information of Disease (ID: DIS59DYC)

Disease Name	Robinow syndrome, autosomal recessive 2
Synonyms	RRS2; ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
Disease Hierarchy	DISK1CNU: Robinow syndrome DIS59DYC: Robinow syndrome, autosomal recessive 2
Disease Identifiers	MONDO ID MONDO_0032800 UMLS CUI C5193143 OMIM ID 618529 MedGen ID 1676687

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
NXN	OT35N40G	Strong	Autosomal recessive	[1]
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References

1	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.