Online Mendelian Inheritance in Man - ATELOSTEOGENESIS, TYPE III - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/108721 http://purl.bioontology.org/ontology/OMIM/108721
Preferred Name	ATELOSTEOGENESIS, TYPE III
Synonyms	AO3 AOIII
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AO3 AOIII
prefLabel	ATELOSTEOGENESIS, TYPE III
Gene Symbol	AOI SCT LRS1 FLNB
Scope Statement	Caused by mutation in the filamin B gene (FLNB, 603381.0006) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU019369 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU019371 http://purl.bioontology.org/ontology/OMIM/MTHU010720 http://purl.bioontology.org/ontology/OMIM/MTHU019376 http://purl.bioontology.org/ontology/OMIM/MTHU019378 http://purl.bioontology.org/ontology/OMIM/MTHU019370 http://purl.bioontology.org/ontology/OMIM/MTHU019372 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU004211 http://purl.bioontology.org/ontology/OMIM/MTHU019377 http://purl.bioontology.org/ontology/OMIM/MTHU019373 http://purl.bioontology.org/ontology/OMIM/MTHU019380 http://purl.bioontology.org/ontology/OMIM/MTHU005550 http://purl.bioontology.org/ontology/OMIM/MTHU001499 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU010718 http://purl.bioontology.org/ontology/OMIM/MTHU019379 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU019375 http://purl.bioontology.org/ontology/OMIM/MTHU019374 http://purl.bioontology.org/ontology/OMIM/MTHU013447 http://purl.bioontology.org/ontology/OMIM/MTHU005511 http://purl.bioontology.org/ontology/OMIM/MTHU007730 http://purl.bioontology.org/ontology/OMIM/MTHU001501 http://purl.bioontology.org/ontology/OMIM/MTHU009545 http://purl.bioontology.org/ontology/OMIM/MTHU001746 See more See less
tui	T019
Gene Locus	3p14.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	108721
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3668942
OMIM Entry Type	3
OMIM MimType Value	pound

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