Online Mendelian Inheritance in Man - ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620908 http://purl.bioontology.org/ontology/OMIM/620908
Preferred Name	ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
Synonyms	ATBFS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ATBFS
prefLabel	ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
Gene Symbol	ATBFS EMILIN1 HMND10 EMILIN
Scope Statement	Caused by mutation in the elastin microfibril interfacer-1 gene (EMILIN1, 130660.0003) [MOLECULAR BASIS] Aortic dilation/tortuosity appears to be progressive in some patients [MISCELLANEOUS] Fractures are present at birth or occur in neonatal period [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004156 http://purl.bioontology.org/ontology/OMIM/MTHU078802 http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU078785 http://purl.bioontology.org/ontology/OMIM/MTHU056915 http://purl.bioontology.org/ontology/OMIM/MTHU002685 http://purl.bioontology.org/ontology/OMIM/MTHU078799 http://purl.bioontology.org/ontology/OMIM/MTHU011138 http://purl.bioontology.org/ontology/OMIM/MTHU004212 http://purl.bioontology.org/ontology/OMIM/MTHU078791 http://purl.bioontology.org/ontology/OMIM/MTHU006123 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU078792 http://purl.bioontology.org/ontology/OMIM/MTHU059137 http://purl.bioontology.org/ontology/OMIM/MTHU001649 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU078796 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036699 http://purl.bioontology.org/ontology/OMIM/MTHU078806 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU005937 http://purl.bioontology.org/ontology/OMIM/MTHU078787 http://purl.bioontology.org/ontology/OMIM/MTHU034611 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU078789 http://purl.bioontology.org/ontology/OMIM/MTHU078786 http://purl.bioontology.org/ontology/OMIM/MTHU078788 http://purl.bioontology.org/ontology/OMIM/MTHU078794 http://purl.bioontology.org/ontology/OMIM/MTHU078784 http://purl.bioontology.org/ontology/OMIM/MTHU056150 http://purl.bioontology.org/ontology/OMIM/MTHU078800 http://purl.bioontology.org/ontology/OMIM/MTHU078795 http://purl.bioontology.org/ontology/OMIM/MTHU078807 http://purl.bioontology.org/ontology/OMIM/MTHU078793 http://purl.bioontology.org/ontology/OMIM/MTHU078804 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU030553 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU000324 http://purl.bioontology.org/ontology/OMIM/MTHU023509 http://purl.bioontology.org/ontology/OMIM/MTHU005085 http://purl.bioontology.org/ontology/OMIM/MTHU078782 http://purl.bioontology.org/ontology/OMIM/MTHU078783 http://purl.bioontology.org/ontology/OMIM/MTHU078798 http://purl.bioontology.org/ontology/OMIM/MTHU078797 http://purl.bioontology.org/ontology/OMIM/MTHU078803 http://purl.bioontology.org/ontology/OMIM/MTHU078801 http://purl.bioontology.org/ontology/OMIM/MTHU078790 http://purl.bioontology.org/ontology/OMIM/MTHU012186 http://purl.bioontology.org/ontology/OMIM/MTHU078805 See more See less
tui	T047
Gene Locus	2p23.3-p23.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620908
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5935641
OMIM Entry Type	3
OMIM MimType Value	pound

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