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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
Definition:This disease is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia, microphthalmia, albinism, or achromatopsia. All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus.
Synonyms:narrow_synonym: GPR143-RELATED FOVEAL HYPOPLASIA;   Isolated Foveal Hypoplasia
 primary_id: MESH:C565005
 xref: MIM:PS136520



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 chr20:25,530,826...25,531,275 JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related foveal hypoplasia ClinVar PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 More... NCBI chr  X:25,498,601...25,523,408 JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29385733 NCBI chr15:29,007,059...29,011,480 JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:78,879,612...78,910,453 JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636 NCBI chr19:47,522,781...47,561,443 JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More... NCBI chr 1:150,527,687...150,622,857 JBrowse link
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 chr 3:92,162,271...92,385,251 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 3:92,128,772...92,157,022 JBrowse link
foveal hypoplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a8 solute carrier family 38, member 8 ISO
ISS
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis | ClinVar Annotator: match by term: SLC38A8-related condition
OMIM:609218
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 More... NCBI chr19:47,522,781...47,561,443 JBrowse link
Foveal Hypoplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 3 | ClinVar Annotator: match by term: Infantile nystagmus with foveal hypoplasia OMIM
ClinVar
PMID:25741868 PMID:31009037 PMID:33193710 PMID:35188035 NCBI chr 6:57,961,423...57,998,901 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5191
      congenital nystagmus 24
        Foveal Hypoplasia 9
          Foveal Hypoplasia 3 1
          foveal hypoplasia 1 2
          foveal hypoplasia 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            eye disease 3722
              ocular motility disease 258
                pathologic nystagmus 110
                  congenital nystagmus 24
                    Foveal Hypoplasia 9
                      Foveal Hypoplasia 3 1
                      foveal hypoplasia 1 2
                      foveal hypoplasia 2 1
paths to the root