Online Mendelian Inheritance in Man - IMAGAWA-MATSUMOTO SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618786 http://purl.bioontology.org/ontology/OMIM/618786
Preferred Name	IMAGAWA-MATSUMOTO SYNDROME
Synonyms	IMMAS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMMAS
prefLabel	IMAGAWA-MATSUMOTO SYNDROME
Gene Symbol	KIAA0160 IMMAS JJAZ1 SUZ12
Scope Statement	Caused by mutation in the SUZ12 polycomb repressive complex 2 subunit gene (SUZ12, 606245.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU070876 http://purl.bioontology.org/ontology/OMIM/MTHU001605 http://purl.bioontology.org/ontology/OMIM/MTHU035566 http://purl.bioontology.org/ontology/OMIM/MTHU070878 http://purl.bioontology.org/ontology/OMIM/MTHU070874 http://purl.bioontology.org/ontology/OMIM/MTHU014085 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU001221 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU005792 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU025399 http://purl.bioontology.org/ontology/OMIM/MTHU070875 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU017627 http://purl.bioontology.org/ontology/OMIM/MTHU002089 http://purl.bioontology.org/ontology/OMIM/MTHU070882 http://purl.bioontology.org/ontology/OMIM/MTHU070873 http://purl.bioontology.org/ontology/OMIM/MTHU002088 http://purl.bioontology.org/ontology/OMIM/MTHU032830 http://purl.bioontology.org/ontology/OMIM/MTHU051570 http://purl.bioontology.org/ontology/OMIM/MTHU070877 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU070881 http://purl.bioontology.org/ontology/OMIM/MTHU038324 http://purl.bioontology.org/ontology/OMIM/MTHU025398 http://purl.bioontology.org/ontology/OMIM/MTHU037926 http://purl.bioontology.org/ontology/OMIM/MTHU070880 http://purl.bioontology.org/ontology/OMIM/MTHU002202 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU070879 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU003056 http://purl.bioontology.org/ontology/OMIM/MTHU062673 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	17q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618786
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5394073
OMIM Entry Type	3
OMIM MimType Value	pound

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