Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Stickler Syndrome, Type I, Nonsyndromic Ocular
Synonyms	Stickler Syndrome, Atypical
ID	http://purl.bioontology.org/ontology/MESH/C563709
altLabel	Stickler Syndrome, Atypical Stickler Syndrome, Type I, Predominantly Ocular
cui	C1836080
HM	D015785
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D015785
MDA	20121105
MeSH Frequency	0
notation	C563709
prefLabel	Stickler Syndrome, Type I, Nonsyndromic Ocular
SC	3
Scope Statement	mutation in COL2A1
TERMUI	T803426 T803427 T803425
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/609508	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/609508	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/120140	Online Mendelian Inheritance in Man	CUI