loading...| 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 |