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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:foveal hypoplasia 1
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Accession:DOID:0070530 term browser browse the term
Definition:A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)
Synonyms:exact_synonym: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES;   FOVEAL HYPOPLASIA WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES;   FVH1;   Foveal Hypoplasia and Presenile Cataract Syndrome;   Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts;   Foveal hypoplasia, presenile cataract;   O'Donnell-Pappas syndrome;   foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract
 narrow_synonym: FOVEAL HYPOPLASIA 1 WITH CATARACT;   FOVEAL HYPOPLASIA AND CATARACT;   foveal hypoplasia-presenile cataract syndrome
 primary_id: MESH:C537858
 alt_id: DOID:9003088;   MIM:136520

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foveal hypoplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome OMIM
ClinVar		 PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14197
    syndrome 9389
      foveal hypoplasia 1 2
Path 2
Term Annotations click to browse term
  disease 14197
    Pathological Conditions, Signs and Symptoms 11102
      Signs and Symptoms 9208
        Neurologic Manifestations 8911
          sensory system disease 6250
            eye disease 3185
              ocular motility disease 226
                pathologic nystagmus 96
                  congenital nystagmus 23
                    Foveal Hypoplasia 7
                      foveal hypoplasia 1 2
paths to the root