Online Mendelian Inheritance in Man - LARSEN SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/150250 http://purl.bioontology.org/ontology/OMIM/150250
Preferred Name	LARSEN SYNDROME
Synonyms	LRS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LRS
prefLabel	LARSEN SYNDROME
Gene Symbol	AOI SCT LRS1 FLNB
notation	150250
Scope Statement	Autosomal recessive inheritance (245600) has also been suggested [MISCELLANEOUS] Joint dislocations become less frequent with age [MISCELLANEOUS] Caused by mutation in the filamin B gene (FLNB, 603381.0004) [MOLECULAR BASIS] Intrafamilial variation [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU024128 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU001504 http://purl.bioontology.org/ontology/OMIM/MTHU005234 http://purl.bioontology.org/ontology/OMIM/MTHU017501 http://purl.bioontology.org/ontology/OMIM/MTHU017491 http://purl.bioontology.org/ontology/OMIM/MTHU007031 http://purl.bioontology.org/ontology/OMIM/MTHU009647 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036568 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU036370 http://purl.bioontology.org/ontology/OMIM/MTHU017498 http://purl.bioontology.org/ontology/OMIM/MTHU024130 http://purl.bioontology.org/ontology/OMIM/MTHU012591 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU017502 http://purl.bioontology.org/ontology/OMIM/MTHU011911 http://purl.bioontology.org/ontology/OMIM/MTHU017497 http://purl.bioontology.org/ontology/OMIM/MTHU005440 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU010718 http://purl.bioontology.org/ontology/OMIM/MTHU002570 http://purl.bioontology.org/ontology/OMIM/MTHU017494 http://purl.bioontology.org/ontology/OMIM/MTHU017492 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU017500 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU024129 http://purl.bioontology.org/ontology/OMIM/MTHU026563 http://purl.bioontology.org/ontology/OMIM/MTHU013691 http://purl.bioontology.org/ontology/OMIM/MTHU036588 http://purl.bioontology.org/ontology/OMIM/MTHU036897 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU009268 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU005346 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU008018 http://purl.bioontology.org/ontology/OMIM/MTHU000257 http://purl.bioontology.org/ontology/OMIM/MTHU013999 http://purl.bioontology.org/ontology/OMIM/MTHU007985 http://purl.bioontology.org/ontology/OMIM/MTHU017499 http://purl.bioontology.org/ontology/OMIM/MTHU017496 http://purl.bioontology.org/ontology/OMIM/MTHU017493 http://purl.bioontology.org/ontology/OMIM/MTHU014703 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	3p14.3
tui	T047
cui	C0175778

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