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loading...| Preferred Name |
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR |
| Synonyms |
DRRD |
| ID |
http://purl.bioontology.org/ontology/OMIM/609508 |
| altLabel |
DRRD RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR STICKLER SYNDROME, ATYPICAL |
| cui |
C1836081 C1836080 |
| Gene Locus |
12q13.11-q13.2 |
| Gene Symbol |
COL2A1 |
| Has manifestation | |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
609508 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR |
| Scope Statement |
Caused by mutation in the collagen, type II, alpha-1 gene (COL2A1, 120140.0034) [MOLECULAR BASIS] The systemic features typically seen in STL1 (108300)are not present [MISCELLANEOUS] |
| tui |
T047 |
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