loading...| Preferred Name |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 |
| Synonyms |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET |
| ID |
http://purl.bioontology.org/ontology/OMIM/136800 |
| altLabel |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET FECD1 |
| cui |
C1850959 |
| Gene Locus |
1p34.3-p32.3 |
| Gene Symbol |
PPCD2 FECD1 COL8A2 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU053445 http://purl.bioontology.org/ontology/OMIM/MTHU058230 http://purl.bioontology.org/ontology/OMIM/MTHU048501 http://purl.bioontology.org/ontology/OMIM/MTHU024207 http://purl.bioontology.org/ontology/OMIM/MTHU024204 http://purl.bioontology.org/ontology/OMIM/MTHU024202 http://purl.bioontology.org/ontology/OMIM/MTHU048502 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
136800 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 |
| Scope Statement |
Caused by mutation in the collagen type VIII alpha-2 gene (COL8A2, 120252.0001) [MOLECULAR BASIS] Female to male ratio, 1:1 [MISCELLANEOUS] Onset by 3rd or 4th decade (earlier onset rare) [MISCELLANEOUS] Greater expression in females [MISCELLANEOUS] Usually sporadic [MISCELLANEOUS] |
| tui |
T047 |