loading...| Preferred Name |
Corneal dystrophy, Fuchs' endothelial, 1 |
| Synonyms |
Fuchs' dystrophy |
| ID |
http://purl.bioontology.org/ontology/MESH/C535478 |
| altLabel |
Fuchs' dystrophy Corneal Dystrophy, Fuchs Endothelial, Early-Onset Corneal Dystrophy, Fuchs Endothelial, 1 Dystrophia epithelialis corneae Corneal dystrophy, Fuchs' endothelial, early-onset FECD1 Fuchs' endothelial corneal dystrophy 1 Early-onset FECD Early-onset Fuchs' endothelial corneal dystrophy Fuchs' endothelial corneal dystrophy, early-onset |
| cui |
C1850959 |
| HM |
D005642 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
32 |
| MMR |
20190624 |
| notation |
C535478 |
| prefLabel |
Corneal dystrophy, Fuchs' endothelial, 1 |
| SC |
3 |
| Scope Statement |
Hereditary Fuch's Endothelial Corneal Dystrophy that is caused by mutations in the COLLAGEN TYPE VIII alpha-2 gene (COL8A2). OMIM: 136800 |
| TERMUI |
T736214 T736213 T000961933 T736210 T805975 T000961931 T736211 T736208 T805976 |
| TH |
ORD (2010) OMIM (2013) NLM (2019) |
| tui |
T047 |