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Stickler syndrome, type 1 MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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