Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
Leber congenital amaurosis
Summary
- Synonym
-
- LCA
- Leber's amaurosis
- Leber's congenital amaurosis
- Leber's disease
- Definition
- A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
- Super Class
- physical disorder retinal disease
External Links
- Disease Ontology
- DOID:14791
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P23942 | Peripherin-2 | |
| P82279 | Protein crumbs homolog 1 | |
| Q13402 | Unconventional myosin-VIIa |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9JLB2 | Protein PALS1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10040 | Protein crumbs |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q08651 | Probable oxidoreductase ENV9 |
