Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/179300 http://purl.bioontology.org/ontology/OMIM/179300
Preferred Name	RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO
Synonyms	RUS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RUS
prefLabel	RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO
Gene Symbol	SMAD6 MADH6 AOVD2
Scope Statement	Type I RUS more frequent than type II RUS [MISCELLANEOUS] Bilateral radioulnar synostosis (RUS) more frequent than unilateral RUS [MISCELLANEOUS] Sex ratio - 5 male to 1 female [MISCELLANEOUS] Susceptibility conferred by mutation in the SMAD family member 6 gene (SMAD6, 602931.0009) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071431 http://purl.bioontology.org/ontology/OMIM/MTHU071430 http://purl.bioontology.org/ontology/OMIM/MTHU071428 http://purl.bioontology.org/ontology/OMIM/MTHU071429
tui	T033
Gene Locus	15q21-q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	179300
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5241445
OMIM Entry Type	3
OMIM MimType Value	pound

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