Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C563709 http://purl.bioontology.org/ontology/MESH/C563709
Preferred Name	Stickler Syndrome, Type I, Nonsyndromic Ocular
Synonyms	Stickler Syndrome, Atypical Stickler Syndrome, Type I, Predominantly Ocular
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Stickler Syndrome, Atypical Stickler Syndrome, Type I, Predominantly Ocular
prefLabel	Stickler Syndrome, Type I, Nonsyndromic Ocular
Scope Statement	mutation in COL2A1
type	http://www.w3.org/2002/07/owl#Class
tui	T047
HM	D015785
SC	3
TERMUI	T803427 T803425 T803426
TH	OMIM (2013)
MMR	20121105
notation	C563709
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C1836080
MeSH Frequency	1
DSC	20121105
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D015785
MDA	20121105

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