Online Mendelian Inheritance in Man - SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616583 http://purl.bioontology.org/ontology/OMIM/616583
Preferred Name	SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
Synonyms	SEDSTN SED, STANESCU TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SEDSTN SED, STANESCU TYPE
prefLabel	SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
Gene Symbol	SEDSTN LCPD ANFH1 STL1 COL2A1 EDMMD ACG2 SEMDSTWK SMDALG VPED OSCDP PLSDT SEDC See more See less
Scope Statement	Symptoms appear in early childhood and are progressive [MISCELLANEOUS] Caused by mutation in the collagen II, alpha-polypeptide gene (COL2A1, 120140.0055) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU052292 http://purl.bioontology.org/ontology/OMIM/MTHU052294 http://purl.bioontology.org/ontology/OMIM/MTHU002713 http://purl.bioontology.org/ontology/OMIM/MTHU014382 http://purl.bioontology.org/ontology/OMIM/MTHU003642 http://purl.bioontology.org/ontology/OMIM/MTHU052291 http://purl.bioontology.org/ontology/OMIM/MTHU052298 http://purl.bioontology.org/ontology/OMIM/MTHU020329 http://purl.bioontology.org/ontology/OMIM/MTHU052293 http://purl.bioontology.org/ontology/OMIM/MTHU012550 http://purl.bioontology.org/ontology/OMIM/MTHU052289 http://purl.bioontology.org/ontology/OMIM/MTHU052297 http://purl.bioontology.org/ontology/OMIM/MTHU001361 http://purl.bioontology.org/ontology/OMIM/MTHU002712 http://purl.bioontology.org/ontology/OMIM/MTHU059082 http://purl.bioontology.org/ontology/OMIM/MTHU053680 http://purl.bioontology.org/ontology/OMIM/MTHU052288 http://purl.bioontology.org/ontology/OMIM/MTHU052290 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU004634 http://purl.bioontology.org/ontology/OMIM/MTHU059080 http://purl.bioontology.org/ontology/OMIM/MTHU052295 http://purl.bioontology.org/ontology/OMIM/MTHU070062 http://purl.bioontology.org/ontology/OMIM/MTHU007025 http://purl.bioontology.org/ontology/OMIM/MTHU000585 See more See less
tui	T047
Gene Locus	12q13.11-q13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616583
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225273
OMIM Entry Type	3
OMIM MimType Value	pound

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