Online Mendelian Inheritance in Man - SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/603546 http://purl.bioontology.org/ontology/OMIM/603546
Preferred Name	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Synonyms	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALL TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE SEMDJL2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALL TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE SEMDJL2
prefLabel	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Gene Symbol	KIF22 SEMDJL2 KNSL4 OBP KID
notation	603546
Scope Statement	Caused by mutation in the kinesin family member 22 gene (KIF22, 603213.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU005072 http://purl.bioontology.org/ontology/OMIM/MTHU005073 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU005067 http://purl.bioontology.org/ontology/OMIM/MTHU005077 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU005074 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU005081 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU005078 http://purl.bioontology.org/ontology/OMIM/MTHU005070 http://purl.bioontology.org/ontology/OMIM/MTHU005084 http://purl.bioontology.org/ontology/OMIM/MTHU001429 http://purl.bioontology.org/ontology/OMIM/MTHU005076 http://purl.bioontology.org/ontology/OMIM/MTHU005085 http://purl.bioontology.org/ontology/OMIM/MTHU005071 http://purl.bioontology.org/ontology/OMIM/MTHU004600 http://purl.bioontology.org/ontology/OMIM/MTHU005086 http://purl.bioontology.org/ontology/OMIM/MTHU005079 http://purl.bioontology.org/ontology/OMIM/MTHU005083 http://purl.bioontology.org/ontology/OMIM/MTHU005080 http://purl.bioontology.org/ontology/OMIM/MTHU005068 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU005075 http://purl.bioontology.org/ontology/OMIM/MTHU005069 http://purl.bioontology.org/ontology/OMIM/MTHU005082 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	16p11.2
tui	T047
cui	C1863732

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