loading...| Preferred Name |
Rhegmatogenous Retinal Detachment, Autosomal Dominant |
| Synonyms |
DRRD |
| ID |
http://purl.bioontology.org/ontology/MESH/C563710 |
| altLabel |
DRRD |
| cui |
C1836081 |
| HM |
D015785 D012163 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
46 |
| MMR |
20150818 |
| notation |
C563710 |
| prefLabel |
Rhegmatogenous Retinal Detachment, Autosomal Dominant |
| SC |
3 |
| Scope Statement |
A hereditary autosomal dominant disorder characterized by retinal detachment due to retinal tearing at the time of posterior vitreous detachment and PATHOLOGICAL MYOPIA. It is often described as a feature of Stickler Syndrome (OMIM: 108300) or erosive vitreoretinopathy (OMIM: 143200). However affected individuals with DRRD alone do not exhibit the vitreous phenotypes associated with Stickler Syndrome and show no signs of skeletal dysplasia or deafness. Mutations in the COL2A1 gene have been identified. OMIM: 609508 |
| TERMUI |
T000884172 T803428 |
| TH |
OMIM (2016) OMIM (2013) |
| tui |
T047 |