Online Mendelian Inheritance in Man - ADAMS-OLIVER SYNDROME 4 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615297 http://purl.bioontology.org/ontology/OMIM/615297
Preferred Name	ADAMS-OLIVER SYNDROME 4
Synonyms	AOS4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AOS4
prefLabel	ADAMS-OLIVER SYNDROME 4
Gene Symbol	C3orf64 EOGT1 EOGT AOS4
Scope Statement	Caused by mutation in the EGF domain-specific O-linked N-acetylglucosamine transferase gene (EOGT, 614789.0001) [MOLECULAR BASIS] Variable phenotype [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU029440 http://purl.bioontology.org/ontology/OMIM/MTHU005302 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU069614 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU069617 http://purl.bioontology.org/ontology/OMIM/MTHU040347 http://purl.bioontology.org/ontology/OMIM/MTHU069616 http://purl.bioontology.org/ontology/OMIM/MTHU043907 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU069615 http://purl.bioontology.org/ontology/OMIM/MTHU043910 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU001650 http://purl.bioontology.org/ontology/OMIM/MTHU017294 http://purl.bioontology.org/ontology/OMIM/MTHU033533 http://purl.bioontology.org/ontology/OMIM/MTHU069613 http://purl.bioontology.org/ontology/OMIM/MTHU069612 See more See less
tui	T047
Gene Locus	3p14.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615297
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3809092
OMIM Entry Type	3
OMIM MimType Value	pound

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