Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/C537492 http://purl.bioontology.org/ontology/MESH/C537492
Preferred Name	Stickler syndrome, type 1
Synonyms	Stickler Dysplasia Arthroophthalmopathy, hereditary progressive Stickler syndrome, membranous vitreous type Hereditary Arthro-Ophthalmopathy Stickler syndrome, vitreous type 1 Stickler Syndrome, Type I Hereditary Arthro-Ophthalmo-Dystrophy Stickler Syndrome
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Stickler Dysplasia Arthroophthalmopathy, hereditary progressive Stickler syndrome, membranous vitreous type Hereditary Arthro-Ophthalmopathy Stickler syndrome, vitreous type 1 Stickler Syndrome, Type I Hereditary Arthro-Ophthalmo-Dystrophy Stickler Syndrome See more See less
prefLabel	Stickler syndrome, type 1
TH	OMIM (2013) GHR (2014) ORD (2010)
notation	C537492
MMR	20150818
MeSH Frequency	132
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
HM	D006319 D012163 D001168 D003240
Inverse of RB	0
Scope Statement	Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Stickler Syndrome Type I is an autosomal dominant condition and mutations in the COL2A1 gene have been identified. OMIM: 108300
MDA	20100825
SC	3
type	http://www.w3.org/2002/07/owl#Class
Mapped to	http://purl.bioontology.org/ontology/MESH/D006319 http://purl.bioontology.org/ontology/MESH/D003240 http://purl.bioontology.org/ontology/MESH/D012163 http://purl.bioontology.org/ontology/MESH/D001168
tui	T047
cui	C2020284
TERMUI	T842540 T800841 T742780 T742781 T842538 T742784 T742783 T842539 T842537 See more See less

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