Online Mendelian Inheritance in Man - COFFIN-SIRIS SYNDROME 5 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616938 http://purl.bioontology.org/ontology/OMIM/616938
Preferred Name	COFFIN-SIRIS SYNDROME 5
Synonyms	CSS5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CSS5
prefLabel	COFFIN-SIRIS SYNDROME 5
Gene Symbol	CSS5 BAF57 SMARCE1
Scope Statement	Two unrelated patients have been reported (last curated May 2016) [MISCELLANEOUS] Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 gene (SMARCE1, 603111.0001) [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/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU003988 http://purl.bioontology.org/ontology/OMIM/MTHU004092 http://purl.bioontology.org/ontology/OMIM/MTHU004213 http://purl.bioontology.org/ontology/OMIM/MTHU055480 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU013226 http://purl.bioontology.org/ontology/OMIM/MTHU004559 http://purl.bioontology.org/ontology/OMIM/MTHU004819 http://purl.bioontology.org/ontology/OMIM/MTHU004117 http://purl.bioontology.org/ontology/OMIM/MTHU031793 http://purl.bioontology.org/ontology/OMIM/MTHU031116 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU020758 http://purl.bioontology.org/ontology/OMIM/MTHU001650 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU033208 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU016459 http://purl.bioontology.org/ontology/OMIM/MTHU004167 http://purl.bioontology.org/ontology/OMIM/MTHU000289 http://purl.bioontology.org/ontology/OMIM/MTHU001746 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU008662 See more See less
tui	T047
Gene Locus	17q21.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616938
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4310788
OMIM Entry Type	3
OMIM MimType Value	pound

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