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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:O'Donnell Pappas Syndrome
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Accession:DOID:9003088 term browser browse the term
Synonyms:exact_synonym: FOVEAL HYPOPLASIA 1;   FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES;   FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT;   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
 narrow_synonym: FOVEAL HYPOPLASIA 1 WITH CATARACT;   FOVEAL HYPOPLASIA AND CATARACT
 primary_id: MESH:C537858
 alt_id: OMIM:136520;   RDO:0003771
For additional species annotation, visit the Alliance of Genome Resources.


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O'Donnell Pappas Syndrome 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 and presenile cataract syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
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 with cataract
ClinVar Annotator: match by OMIM:136520
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
OMIM
ClinVar
PMID:8640214, PMID:9727514, PMID:9931324, PMID:10441571, PMID:12868034, PMID:15086958, PMID:15629294, PMID:16407227, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      O'Donnell Pappas Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 471
              ocular motility disease 172
                pathologic nystagmus 48
                  congenital nystagmus 14
                    Foveal Hypoplasia 7
                      O'Donnell Pappas Syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.