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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. 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 IEP protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 IEP protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 IEP protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Nrg1 neuregulin 1 IEP protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
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: Amblyopia 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: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 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 19100
    sensory system disease 7329
      eye disease 3693
        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 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10419
          sensory system disease 7329
            eye disease 3693
              Vision Disorders 197
                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