Online Mendelian Inheritance in Man - URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300280 http://purl.bioontology.org/ontology/OMIM/300280
Preferred Name	URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
Synonyms	FCMSU FACIOCARDIOMUSCULOSKELETAL SYNDROME, URUGUAY TYPE FCMS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FCMSU FACIOCARDIOMUSCULOSKELETAL SYNDROME, URUGUAY TYPE FCMS
prefLabel	URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
Gene Symbol	RBMX1B FHL1A FHL1B FCMSU SLIM1 XMPMA RBMX1A FHL1 KYOT See more See less
Scope Statement	Onset in early childhood [MISCELLANEOUS] Caused by mutation in the four-and-a-half LIM domains 1 gene (FHL1, 300163.0018) [MOLECULAR BASIS] One family from Uruguay has been reported (last curated October 2017) [MISCELLANEOUS] Death in middle age due to cardiomyopathy may occur [MISCELLANEOUS] Female mutation carriers may have subtle manifestations [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU005304 http://purl.bioontology.org/ontology/OMIM/MTHU003092 http://purl.bioontology.org/ontology/OMIM/MTHU008430 http://purl.bioontology.org/ontology/OMIM/MTHU008432 http://purl.bioontology.org/ontology/OMIM/MTHU000253 http://purl.bioontology.org/ontology/OMIM/MTHU000580 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU008429 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU005090 http://purl.bioontology.org/ontology/OMIM/MTHU001172 http://purl.bioontology.org/ontology/OMIM/MTHU008427 http://purl.bioontology.org/ontology/OMIM/MTHU008428 http://purl.bioontology.org/ontology/OMIM/MTHU000267 http://purl.bioontology.org/ontology/OMIM/MTHU004117 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU003649 http://purl.bioontology.org/ontology/OMIM/MTHU002803 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU008423 http://purl.bioontology.org/ontology/OMIM/MTHU001429 http://purl.bioontology.org/ontology/OMIM/MTHU008425 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU002335 http://purl.bioontology.org/ontology/OMIM/MTHU002202 http://purl.bioontology.org/ontology/OMIM/MTHU008426 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU000260 http://purl.bioontology.org/ontology/OMIM/MTHU008424 http://purl.bioontology.org/ontology/OMIM/MTHU008431 See more See less
tui	T047
Gene Locus	Xq27.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300280
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C1846010
OMIM Entry Type	3
OMIM MimType Value	pound

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