Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/604841
http://purl.bioontology.org/ontology/OMIM/604841
Preferred Name

STICKLER SYNDROME, TYPE II
Synonyms
STICKLER SYNDROME, VITREOUS TYPE 2
STL2
STICKLER SYNDROME, BEADED VITREOUS TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
STICKLER SYNDROME, VITREOUS TYPE 2
STL2
STICKLER SYNDROME, BEADED VITREOUS TYPE
prefLabel
STICKLER SYNDROME, TYPE II
Gene Symbol
COL11A1
STL2
DFNA37
Scope Statement
Caused by mutation in the collagen XI, alpha-1 polypeptide gene (COL11A1, 120280.0001) [MOLECULAR BASIS]
Allelic to Marshall syndrome (154780) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU001174
http://purl.bioontology.org/ontology/OMIM/MTHU000607
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU004639
http://purl.bioontology.org/ontology/OMIM/MTHU004644
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU004641
http://purl.bioontology.org/ontology/OMIM/MTHU004643
http://purl.bioontology.org/ontology/OMIM/MTHU004642
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU004634
http://purl.bioontology.org/ontology/OMIM/MTHU020335
http://purl.bioontology.org/ontology/OMIM/MTHU004635
http://purl.bioontology.org/ontology/OMIM/MTHU001056
http://purl.bioontology.org/ontology/OMIM/MTHU004636
http://purl.bioontology.org/ontology/OMIM/MTHU004645
http://purl.bioontology.org/ontology/OMIM/MTHU004640
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tui
T047
Gene Locus
1p21
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
604841
Semantic type UMLS property
Has inheritance type
cui
C1858084
OMIM Entry Type
3
OMIM MimType Value
pound
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