Online Mendelian Inheritance in Man - SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/271640 http://purl.bioontology.org/ontology/OMIM/271640
Preferred Name	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
Synonyms	SEMDJL1 SEMDJL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SEMDJL1 SEMDJL
prefLabel	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
Gene Symbol	B3GALT6 EDSSPD2 ALGAZ SEMDJL1
Scope Statement	Caused by mutation in the UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 gene (B3GALT6, 615291.0001) [MOLECULAR BASIS] Common in Afrikaan population, South Africa [MISCELLANEOUS] Death in first-second decade of life secondary to cardio-respiratory compromise [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009288 http://purl.bioontology.org/ontology/OMIM/MTHU009295 http://purl.bioontology.org/ontology/OMIM/MTHU037540 http://purl.bioontology.org/ontology/OMIM/MTHU015357 http://purl.bioontology.org/ontology/OMIM/MTHU007225 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU007956 http://purl.bioontology.org/ontology/OMIM/MTHU009274 http://purl.bioontology.org/ontology/OMIM/MTHU009297 http://purl.bioontology.org/ontology/OMIM/MTHU001504 http://purl.bioontology.org/ontology/OMIM/MTHU009291 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU009278 http://purl.bioontology.org/ontology/OMIM/MTHU042178 http://purl.bioontology.org/ontology/OMIM/MTHU009283 http://purl.bioontology.org/ontology/OMIM/MTHU028206 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU005067 http://purl.bioontology.org/ontology/OMIM/MTHU002029 http://purl.bioontology.org/ontology/OMIM/MTHU000820 http://purl.bioontology.org/ontology/OMIM/MTHU042179 http://purl.bioontology.org/ontology/OMIM/MTHU004733 http://purl.bioontology.org/ontology/OMIM/MTHU001361 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU042181 http://purl.bioontology.org/ontology/OMIM/MTHU009301 http://purl.bioontology.org/ontology/OMIM/MTHU042184 http://purl.bioontology.org/ontology/OMIM/MTHU013226 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU005550 http://purl.bioontology.org/ontology/OMIM/MTHU005440 http://purl.bioontology.org/ontology/OMIM/MTHU009298 http://purl.bioontology.org/ontology/OMIM/MTHU042180 http://purl.bioontology.org/ontology/OMIM/MTHU036387 http://purl.bioontology.org/ontology/OMIM/MTHU009286 http://purl.bioontology.org/ontology/OMIM/MTHU005090 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU023390 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU003644 http://purl.bioontology.org/ontology/OMIM/MTHU009289 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU009272 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU009284 http://purl.bioontology.org/ontology/OMIM/MTHU067892 http://purl.bioontology.org/ontology/OMIM/MTHU013888 http://purl.bioontology.org/ontology/OMIM/MTHU009282 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU042177 http://purl.bioontology.org/ontology/OMIM/MTHU037067 http://purl.bioontology.org/ontology/OMIM/MTHU013195 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU009293 http://purl.bioontology.org/ontology/OMIM/MTHU004635 http://purl.bioontology.org/ontology/OMIM/MTHU009294 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU042176 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU004600 http://purl.bioontology.org/ontology/OMIM/MTHU009277 http://purl.bioontology.org/ontology/OMIM/MTHU009281 http://purl.bioontology.org/ontology/OMIM/MTHU009300 http://purl.bioontology.org/ontology/OMIM/MTHU009285 http://purl.bioontology.org/ontology/OMIM/MTHU009296 http://purl.bioontology.org/ontology/OMIM/MTHU009273 http://purl.bioontology.org/ontology/OMIM/MTHU002374 http://purl.bioontology.org/ontology/OMIM/MTHU009299 http://purl.bioontology.org/ontology/OMIM/MTHU009275 http://purl.bioontology.org/ontology/OMIM/MTHU000605 http://purl.bioontology.org/ontology/OMIM/MTHU009290 http://purl.bioontology.org/ontology/OMIM/MTHU009287 http://purl.bioontology.org/ontology/OMIM/MTHU001173 See more See less
tui	T047
Gene Locus	1p36.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	271640
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4017377
OMIM Entry Type	3
OMIM MimType Value	pound

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