Stickler syndrome, type 1 [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C537492
Heading Mapped to:
Entry Terms:
- Stickler syndrome, membranous vitreous type
- Arthroophthalmopathy, hereditary progressive
- Stickler Dysplasia
- Stickler Syndrome
- Hereditary Arthro-Ophthalmo-Dystrophy
- Hereditary Arthro-Ophthalmopathy
- Stickler syndrome, vitreous type 1
- Stickler Syndrome, Type I