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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
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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. (DO)
Synonyms:exact_synonym: Anisometropic Amblyopia;   Anisometropic Amblyopias;   Developmental Amblyopia;   Developmental Amblyopias;   Lazy Eye;   amblyopias;   lazy eyes
 primary_id: MESH:D000550
 xref: ICD10CM:H53.00;   ICD9CM:368.00;   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 Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        amblyopia 3
          Hemifacial Hyperplasia with Strabismus 0
          Mental and Growth Retardation with Amblyopia 0
          ametropic amblyopia 0
          disuse amblyopia 0
          suppression amblyopia 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            Vision Disorders 165
              amblyopia 3
                Hemifacial Hyperplasia with Strabismus 0
                Mental and Growth Retardation with Amblyopia 0
                ametropic amblyopia 0
                disuse amblyopia 0
                suppression amblyopia 0
paths to the root