MeSH Browser

MeSH Supplementary: Stickler syndrome, type 1
Unique ID: C537492
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537492
Entry Term(s): Arthroophthalmopathy, hereditary progressive; Hereditary Arthro-Ophthalmo-Dystrophy; Hereditary Arthro-Ophthalmopathy; Stickler Dysplasia; Stickler Syndrome; Stickler Syndrome, Type I; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1
Heading Mapped to: *Arthritis; *Connective Tissue Diseases; *Hearing Loss, Sensorineural; *Retinal Detachment
Frequency: 132
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Stickler syndrome, type 1 MeSH Supplementary Concept Data 2024