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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
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Accession:DOID:9001923 term browser browse the term
Synonyms:exact_synonym: Isolated Foveal Hypoplasia
 primary_id: MESH:C565005
 alt_id: RDO:0013767
 xref: OMIM:PS136520
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Foveal Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:28492532, PMID:31696227 NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by OMIM:609218
ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis
OMIM
ClinVar
PMID:19590516, PMID:24045842, PMID:24290379 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
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 term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520
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 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          Foveal Hypoplasia 7
            Foveal Hypoplasia and Anterior Segment Dysgenesis 1
            O'Donnell Pappas Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 472
              ocular motility disease 173
                pathologic nystagmus 48
                  congenital nystagmus 14
                    Foveal Hypoplasia 7
                      Foveal Hypoplasia and Anterior Segment Dysgenesis 1
                      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.