Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620022
http://purl.bioontology.org/ontology/OMIM/620022
Preferred Name

STICKLER SYNDROME, TYPE VI
Synonyms
STL6
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
STL6
prefLabel
STICKLER SYNDROME, TYPE VI
Gene Symbol
STL6
COL9A3
EDM3
IDD
Scope Statement
High myopia and hearing loss are consistent findings [MISCELLANEOUS]
Caused by mutation in the alpha-3 type IX collagen gene (COL9A3, 120270.0005) [MOLECULAR BASIS]
Facial dysmorphisms and skeletal features are variable [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU010821
http://purl.bioontology.org/ontology/OMIM/MTHU002188
http://purl.bioontology.org/ontology/OMIM/MTHU011557
http://purl.bioontology.org/ontology/OMIM/MTHU017196
http://purl.bioontology.org/ontology/OMIM/MTHU076198
http://purl.bioontology.org/ontology/OMIM/MTHU076184
http://purl.bioontology.org/ontology/OMIM/MTHU001504
http://purl.bioontology.org/ontology/OMIM/MTHU076203
http://purl.bioontology.org/ontology/OMIM/MTHU076193
http://purl.bioontology.org/ontology/OMIM/MTHU036568
http://purl.bioontology.org/ontology/OMIM/MTHU034064
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU076208
http://purl.bioontology.org/ontology/OMIM/MTHU076190
http://purl.bioontology.org/ontology/OMIM/MTHU076195
http://purl.bioontology.org/ontology/OMIM/MTHU076206
http://purl.bioontology.org/ontology/OMIM/MTHU049532
http://purl.bioontology.org/ontology/OMIM/MTHU076207
http://purl.bioontology.org/ontology/OMIM/MTHU001361
http://purl.bioontology.org/ontology/OMIM/MTHU002370
http://purl.bioontology.org/ontology/OMIM/MTHU002599
http://purl.bioontology.org/ontology/OMIM/MTHU076199
http://purl.bioontology.org/ontology/OMIM/MTHU001798
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU009247
http://purl.bioontology.org/ontology/OMIM/MTHU076183
http://purl.bioontology.org/ontology/OMIM/MTHU076201
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU076186
http://purl.bioontology.org/ontology/OMIM/MTHU062736
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU076187
http://purl.bioontology.org/ontology/OMIM/MTHU076191
http://purl.bioontology.org/ontology/OMIM/MTHU031279
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU076194
http://purl.bioontology.org/ontology/OMIM/MTHU076196
http://purl.bioontology.org/ontology/OMIM/MTHU003604
http://purl.bioontology.org/ontology/OMIM/MTHU037067
http://purl.bioontology.org/ontology/OMIM/MTHU036410
http://purl.bioontology.org/ontology/OMIM/MTHU076210
http://purl.bioontology.org/ontology/OMIM/MTHU076189
http://purl.bioontology.org/ontology/OMIM/MTHU011178
http://purl.bioontology.org/ontology/OMIM/MTHU076200
http://purl.bioontology.org/ontology/OMIM/MTHU076202
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU076188
http://purl.bioontology.org/ontology/OMIM/MTHU076185
http://purl.bioontology.org/ontology/OMIM/MTHU001501
http://purl.bioontology.org/ontology/OMIM/MTHU076209
http://purl.bioontology.org/ontology/OMIM/MTHU000720
http://purl.bioontology.org/ontology/OMIM/MTHU076197
http://purl.bioontology.org/ontology/OMIM/MTHU011134
http://purl.bioontology.org/ontology/OMIM/MTHU076192
http://purl.bioontology.org/ontology/OMIM/MTHU076204
http://purl.bioontology.org/ontology/OMIM/MTHU011174
http://purl.bioontology.org/ontology/OMIM/MTHU004645
http://purl.bioontology.org/ontology/OMIM/MTHU001500
http://purl.bioontology.org/ontology/OMIM/MTHU013103
http://purl.bioontology.org/ontology/OMIM/MTHU076205
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tui
T047
Gene Locus
20q13.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620022
Semantic type UMLS property
Has inheritance type
cui
C5774207
OMIM Entry Type
3
OMIM MimType Value
pound
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