Online Mendelian Inheritance in Man - GELEOPHYSIC DYSPLASIA 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614185 http://purl.bioontology.org/ontology/OMIM/614185
Preferred Name	GELEOPHYSIC DYSPLASIA 2
Synonyms	GPHYSD2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GPHYSD2
prefLabel	GELEOPHYSIC DYSPLASIA 2
Gene Symbol	FBN1 SSKS ECTOL1 MFS1 GPHYSD2 MFLS ACMICD WMS2 See more See less
Scope Statement	Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0055) [MOLECULAR BASIS] Early death in some patients due to cardiorespiratory involvement [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU030601 http://purl.bioontology.org/ontology/OMIM/MTHU004156 http://purl.bioontology.org/ontology/OMIM/MTHU001355 http://purl.bioontology.org/ontology/OMIM/MTHU002713 http://purl.bioontology.org/ontology/OMIM/MTHU035275 http://purl.bioontology.org/ontology/OMIM/MTHU035279 http://purl.bioontology.org/ontology/OMIM/MTHU000601 http://purl.bioontology.org/ontology/OMIM/MTHU035286 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU002342 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU035283 http://purl.bioontology.org/ontology/OMIM/MTHU035280 http://purl.bioontology.org/ontology/OMIM/MTHU035281 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU039739 http://purl.bioontology.org/ontology/OMIM/MTHU035285 http://purl.bioontology.org/ontology/OMIM/MTHU000602 http://purl.bioontology.org/ontology/OMIM/MTHU013294 http://purl.bioontology.org/ontology/OMIM/MTHU035278 http://purl.bioontology.org/ontology/OMIM/MTHU005938 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU002341 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU002799 http://purl.bioontology.org/ontology/OMIM/MTHU035282 http://purl.bioontology.org/ontology/OMIM/MTHU005783 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000730 See more See less
tui	T047
Gene Locus	15q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614185
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3280054
OMIM Entry Type	3
OMIM MimType Value	pound

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