Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618395
http://purl.bioontology.org/ontology/OMIM/618395
Preferred Name

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
Synonyms
SEMDJL3
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SEMDJL3
prefLabel
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
Gene Symbol
EXOC6B
SEMDJL3
KIAA0919
SEC15B
Scope Statement
Caused by mutation in the exocyst complex component-6B gene (EXOC6B, 607880.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU002791
http://purl.bioontology.org/ontology/OMIM/MTHU064562
http://purl.bioontology.org/ontology/OMIM/MTHU015762
http://purl.bioontology.org/ontology/OMIM/MTHU064564
http://purl.bioontology.org/ontology/OMIM/MTHU005067
http://purl.bioontology.org/ontology/OMIM/MTHU064563
http://purl.bioontology.org/ontology/OMIM/MTHU064557
http://purl.bioontology.org/ontology/OMIM/MTHU003485
http://purl.bioontology.org/ontology/OMIM/MTHU011405
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU064567
http://purl.bioontology.org/ontology/OMIM/MTHU001148
http://purl.bioontology.org/ontology/OMIM/MTHU044620
http://purl.bioontology.org/ontology/OMIM/MTHU064558
http://purl.bioontology.org/ontology/OMIM/MTHU013088
http://purl.bioontology.org/ontology/OMIM/MTHU013703
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU064565
http://purl.bioontology.org/ontology/OMIM/MTHU064555
http://purl.bioontology.org/ontology/OMIM/MTHU064559
http://purl.bioontology.org/ontology/OMIM/MTHU035344
http://purl.bioontology.org/ontology/OMIM/MTHU000074
http://purl.bioontology.org/ontology/OMIM/MTHU064556
http://purl.bioontology.org/ontology/OMIM/MTHU004623
http://purl.bioontology.org/ontology/OMIM/MTHU064566
http://purl.bioontology.org/ontology/OMIM/MTHU064554
http://purl.bioontology.org/ontology/OMIM/MTHU036440
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU064561
http://purl.bioontology.org/ontology/OMIM/MTHU004600
http://purl.bioontology.org/ontology/OMIM/MTHU005079
http://purl.bioontology.org/ontology/OMIM/MTHU005083
http://purl.bioontology.org/ontology/OMIM/MTHU000250
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU064560
http://purl.bioontology.org/ontology/OMIM/MTHU000585
http://purl.bioontology.org/ontology/OMIM/MTHU005082
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tui
T047
Gene Locus
2p13.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618395
Semantic type UMLS property
Has inheritance type
cui
C5193073
OMIM Entry Type
3
OMIM MimType Value
pound
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