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loading...| Preferred Name |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
| Synonyms |
Stickler Syndrome, Atypical |
| ID |
http://purl.bioontology.org/ontology/MESH/C563709 |
| altLabel |
Stickler Syndrome, Atypical Stickler Syndrome, Type I, Predominantly Ocular |
| cui |
C1836080 |
| HM |
D015785 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
1 |
| notation |
C563709 |
| prefLabel |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
| SC |
3 |
| Scope Statement |
mutation in COL2A1 |
| TERMUI |
T803426 T803427 T803425 |
| TH |
OMIM (2013) |
| tui |
T047 |
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