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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;   FVH1;   Foveal Hypoplasia and Presenile Cataract Syndrome;   Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts;   O'Donnell-Pappas syndrome;   foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract;   foveal hypoplasia with or without anterior segment anomalies;   foveal hypoplasia, presenile cataract
 narrow_synonym: FOVEAL HYPOPLASIA 1 WITH CATARACT;   FOVEAL HYPOPLASIA AND CATARACT;   foveal hypoplasia-presenile cataract syndrome
 alt_id: DOID:9003088
 xref: MESH:C537858;   MIM:136520;   MONDO:0007628


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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:11309364 PMID:11431688 PMID:12552561 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      foveal hypoplasia 1 2
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            eye disease 3730
              ocular motility disease 255
                pathologic nystagmus 110
                  congenital nystagmus 24
                    Foveal Hypoplasia 9
                      foveal hypoplasia 1 2
paths to the root