Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:amblyopia
go back to main search page
Accession:DOID:10376 term browser browse the term
Definition:An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. (DO)
Synonyms:exact_synonym: Anisometropic Amblyopia;   Developmental Amblyopia;   Developmental Amblyopias;   amblyopias;   anisometropic amblyopias;   lazy eye;   lazy eyes
 primary_id: MESH:D000550
 xref: ICD10CM:H53.00;   ICD9CM:368.00;   MONDO:0001020;   NCI:C118764
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
amblyopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Nrg1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    sensory system disease 7186
      eye disease 3720
        amblyopia 7
          Hemifacial Hyperplasia with Strabismus 0
          Mental and Growth Retardation with Amblyopia 0
          deprivation amblyopia 0
          refractive amblyopia 0
          strabismic amblyopia 0
Path 2
Term Annotations click to browse term
  disease 16263
    disease of anatomical entity 15856
      nervous system disease 13790
        Neurologic Manifestations 10190
          sensory system disease 7186
            eye disease 3720
              Vision Disorders 205
                amblyopia 7
                  Hemifacial Hyperplasia with Strabismus 0
                  Mental and Growth Retardation with Amblyopia 0
                  deprivation amblyopia 0
                  refractive amblyopia 0
                  strabismic amblyopia 0
paths to the root