Online Mendelian Inheritance in Man - COFFIN-SIRIS SYNDROME 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614607 http://purl.bioontology.org/ontology/OMIM/614607
Preferred Name	COFFIN-SIRIS SYNDROME 2
Synonyms	MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 CHROMOSOME 1p36.11 DUPLICATION SYNDROME CSS2 MRD14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 CHROMOSOME 1p36.11 DUPLICATION SYNDROME CSS2 MRD14
prefLabel	COFFIN-SIRIS SYNDROME 2
Gene Symbol	ARID1A B120 CSS2 C1orf4 MRD14 SMARCF1 See more See less
Scope Statement	Caused by mutation in the AT-rich interaction domain-containing protein 1A gene (ARID1A, 603024.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004160 http://purl.bioontology.org/ontology/OMIM/MTHU001955 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU004092 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU004213 http://purl.bioontology.org/ontology/OMIM/MTHU002002 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU013226 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU004117 http://purl.bioontology.org/ontology/OMIM/MTHU031793 http://purl.bioontology.org/ontology/OMIM/MTHU000261 http://purl.bioontology.org/ontology/OMIM/MTHU013668 http://purl.bioontology.org/ontology/OMIM/MTHU002513 http://purl.bioontology.org/ontology/OMIM/MTHU000268 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU018131 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU003747 http://purl.bioontology.org/ontology/OMIM/MTHU033208 http://purl.bioontology.org/ontology/OMIM/MTHU000260 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU004167 http://purl.bioontology.org/ontology/OMIM/MTHU018132 http://purl.bioontology.org/ontology/OMIM/MTHU001746 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU002505 See more See less
tui	T047
Gene Locus	1p35.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614607
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4749148 C3553247
OMIM Entry Type	3
OMIM MimType Value	pound

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