Online Mendelian Inheritance in Man - SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LI-SHAO-LI TYPE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/621099 http://purl.bioontology.org/ontology/OMIM/621099
Preferred Name	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LI-SHAO-LI TYPE
Synonyms	SEMDLSL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SEMDLSL
prefLabel	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LI-SHAO-LI TYPE
Gene Symbol	CCN2 KMD SEMDLSL NOV2 CTGF
Scope Statement	Waddling gait becomes apparent in early childhood [MISCELLANEOUS] Affected individuals are asymptomatic at birth [MISCELLANEOUS] Caused by mutation in the cellular communication network factor 2 gene (CCN2, 121009.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079635 http://purl.bioontology.org/ontology/OMIM/MTHU002791 http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU079644 http://purl.bioontology.org/ontology/OMIM/MTHU033118 http://purl.bioontology.org/ontology/OMIM/MTHU079639 http://purl.bioontology.org/ontology/OMIM/MTHU079633 http://purl.bioontology.org/ontology/OMIM/MTHU002673 http://purl.bioontology.org/ontology/OMIM/MTHU079637 http://purl.bioontology.org/ontology/OMIM/MTHU079638 http://purl.bioontology.org/ontology/OMIM/MTHU079643 http://purl.bioontology.org/ontology/OMIM/MTHU002712 http://purl.bioontology.org/ontology/OMIM/MTHU036874 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU003449 http://purl.bioontology.org/ontology/OMIM/MTHU014378 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU036636 http://purl.bioontology.org/ontology/OMIM/MTHU079636 http://purl.bioontology.org/ontology/OMIM/MTHU015877 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU079634 http://purl.bioontology.org/ontology/OMIM/MTHU000606 http://purl.bioontology.org/ontology/OMIM/MTHU079642 http://purl.bioontology.org/ontology/OMIM/MTHU000585 http://purl.bioontology.org/ontology/OMIM/MTHU079640 http://purl.bioontology.org/ontology/OMIM/MTHU079641 See more See less
tui	T047
Gene Locus	6q23.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	621099
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C6012697
OMIM Entry Type	3
OMIM MimType Value	pound

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