Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/143095
http://purl.bioontology.org/ontology/OMIM/143095
Preferred Name

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Synonyms
HUMEROSPINAL DYSOSTOSIS
HSD
SEDCJD
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE
CDMD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HUMEROSPINAL DYSOSTOSIS
HSD
SEDCJD
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE
CDMD
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prefLabel
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Gene Symbol
C6ST1
C6ST
HSD
CHST3
Scope Statement
Waddling gait [MISCELLANEOUS]
Caused by mutation in the carbohydrate sulfotransferase 3 gene (CHST3, 603799.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU031006
http://purl.bioontology.org/ontology/OMIM/MTHU030988
http://purl.bioontology.org/ontology/OMIM/MTHU001952
http://purl.bioontology.org/ontology/OMIM/MTHU001504
http://purl.bioontology.org/ontology/OMIM/MTHU001955
http://purl.bioontology.org/ontology/OMIM/MTHU001956
http://purl.bioontology.org/ontology/OMIM/MTHU031004
http://purl.bioontology.org/ontology/OMIM/MTHU067196
http://purl.bioontology.org/ontology/OMIM/MTHU001973
http://purl.bioontology.org/ontology/OMIM/MTHU001954
http://purl.bioontology.org/ontology/OMIM/MTHU002225
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU001969
http://purl.bioontology.org/ontology/OMIM/MTHU030982
http://purl.bioontology.org/ontology/OMIM/MTHU030992
http://purl.bioontology.org/ontology/OMIM/MTHU000506
http://purl.bioontology.org/ontology/OMIM/MTHU030980
http://purl.bioontology.org/ontology/OMIM/MTHU030998
http://purl.bioontology.org/ontology/OMIM/MTHU030997
http://purl.bioontology.org/ontology/OMIM/MTHU030991
http://purl.bioontology.org/ontology/OMIM/MTHU025276
http://purl.bioontology.org/ontology/OMIM/MTHU030990
http://purl.bioontology.org/ontology/OMIM/MTHU030993
http://purl.bioontology.org/ontology/OMIM/MTHU001975
http://purl.bioontology.org/ontology/OMIM/MTHU030984
http://purl.bioontology.org/ontology/OMIM/MTHU036695
http://purl.bioontology.org/ontology/OMIM/MTHU001946
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU004124
http://purl.bioontology.org/ontology/OMIM/MTHU001499
http://purl.bioontology.org/ontology/OMIM/MTHU001966
http://purl.bioontology.org/ontology/OMIM/MTHU001789
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU000048
http://purl.bioontology.org/ontology/OMIM/MTHU025275
http://purl.bioontology.org/ontology/OMIM/MTHU030978
http://purl.bioontology.org/ontology/OMIM/MTHU000921
http://purl.bioontology.org/ontology/OMIM/MTHU030981
http://purl.bioontology.org/ontology/OMIM/MTHU001974
http://purl.bioontology.org/ontology/OMIM/MTHU025273
http://purl.bioontology.org/ontology/OMIM/MTHU030999
http://purl.bioontology.org/ontology/OMIM/MTHU001948
http://purl.bioontology.org/ontology/OMIM/MTHU001949
http://purl.bioontology.org/ontology/OMIM/MTHU001153
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU031000
http://purl.bioontology.org/ontology/OMIM/MTHU000564
http://purl.bioontology.org/ontology/OMIM/MTHU030995
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU031001
http://purl.bioontology.org/ontology/OMIM/MTHU001977
http://purl.bioontology.org/ontology/OMIM/MTHU001971
http://purl.bioontology.org/ontology/OMIM/MTHU002823
http://purl.bioontology.org/ontology/OMIM/MTHU030986
http://purl.bioontology.org/ontology/OMIM/MTHU030979
http://purl.bioontology.org/ontology/OMIM/MTHU036841
http://purl.bioontology.org/ontology/OMIM/MTHU025274
http://purl.bioontology.org/ontology/OMIM/MTHU010799
http://purl.bioontology.org/ontology/OMIM/MTHU031008
http://purl.bioontology.org/ontology/OMIM/MTHU001958
http://purl.bioontology.org/ontology/OMIM/MTHU067195
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU001972
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU001967
http://purl.bioontology.org/ontology/OMIM/MTHU030994
http://purl.bioontology.org/ontology/OMIM/MTHU030985
http://purl.bioontology.org/ontology/OMIM/MTHU030996
http://purl.bioontology.org/ontology/OMIM/MTHU031003
http://purl.bioontology.org/ontology/OMIM/MTHU001951
http://purl.bioontology.org/ontology/OMIM/MTHU031002
http://purl.bioontology.org/ontology/OMIM/MTHU001947
http://purl.bioontology.org/ontology/OMIM/MTHU001976
http://purl.bioontology.org/ontology/OMIM/MTHU001960
http://purl.bioontology.org/ontology/OMIM/MTHU001959
http://purl.bioontology.org/ontology/OMIM/MTHU031005
http://purl.bioontology.org/ontology/OMIM/MTHU031007
http://purl.bioontology.org/ontology/OMIM/MTHU011786
http://purl.bioontology.org/ontology/OMIM/MTHU030983
http://purl.bioontology.org/ontology/OMIM/MTHU001964
http://purl.bioontology.org/ontology/OMIM/MTHU021006
http://purl.bioontology.org/ontology/OMIM/MTHU001950
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tui
T047
Gene Locus
10q22.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
143095
Semantic type UMLS property
Has inheritance type
cui
C1837657
Moved from
608637
OMIM Entry Type
3
OMIM MimType Value
pound
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