Preferred Name |
Stickler syndrome, type 1 |
Synonyms |
Stickler Syndrome |
ID |
http://purl.bioontology.org/ontology/MESH/C537492 |
altLabel |
Stickler Syndrome Stickler syndrome, membranous vitreous type Stickler Syndrome, Type I Arthroophthalmopathy, hereditary progressive Hereditary Arthro-Ophthalmo-Dystrophy Stickler Dysplasia Hereditary Arthro-Ophthalmopathy Stickler syndrome, vitreous type 1 |
cui |
C2020284 |
HM |
D003240 D001168 D012163 D006319 |
Inverse of RB |
0 |
Mapped to |
http://purl.bioontology.org/ontology/MESH/D012163 http://purl.bioontology.org/ontology/MESH/D001168 |
MDA |
20100825 |
MeSH Frequency |
132 |
MMR |
20150818 |
notation |
C537492 |
prefLabel |
Stickler syndrome, type 1 |
SC |
3 |
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 |
TERMUI |
T842538 T800841 T742780 T742784 T842539 T842537 T742783 T842540 T742781 |
TH |
ORD (2010) OMIM (2013) GHR (2014) |
tui |
T047 |