Online Mendelian Inheritance in Man - ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616331 http://purl.bioontology.org/ontology/OMIM/616331
Preferred Name	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Synonyms	DRS2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DRS2
prefLabel	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Gene Symbol	DRS2 DVL1
Scope Statement	Onset at birth [MISCELLANEOUS] Caused by mutation in the dishevelled segment polarity protein 1 gene (DVL1, 601365.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004401 http://purl.bioontology.org/ontology/OMIM/MTHU069983 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU019019 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU002029 http://purl.bioontology.org/ontology/OMIM/MTHU038835 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU005636 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU003865 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU001511 http://purl.bioontology.org/ontology/OMIM/MTHU006883 http://purl.bioontology.org/ontology/OMIM/MTHU005522 http://purl.bioontology.org/ontology/OMIM/MTHU000265 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU009601 http://purl.bioontology.org/ontology/OMIM/MTHU069981 http://purl.bioontology.org/ontology/OMIM/MTHU051497 http://purl.bioontology.org/ontology/OMIM/MTHU051502 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU011616 http://purl.bioontology.org/ontology/OMIM/MTHU005513 http://purl.bioontology.org/ontology/OMIM/MTHU004047 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU069982 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU001056 See more See less
tui	T047
Gene Locus	1p36
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616331
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225363
OMIM Entry Type	3
OMIM MimType Value	pound

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