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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 and Anterior Segment Dysgenesis
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Accession:DOID:9005271 term browser browse the term
Synonyms:exact_synonym: FHONDA;   FOVEAL HYPOPLASIA 2;   FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM;   FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS;   FVH2
 narrow_synonym: FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS;   FOVEAL HYPOPLASIA AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
 primary_id: MESH:C563774
 alt_id: OMIM:609218;   RDO:0012946
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: Foveal hypoplasia 2
OMIM
ClinVar
PMID:19590516, PMID:24045842, PMID:24290379, PMID:25741868 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        Eye Abnormalities 367
          Foveal Hypoplasia and Anterior Segment Dysgenesis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            cranial nerve disease 477
              ocular motility disease 175
                pathologic nystagmus 47
                  congenital nystagmus 14
                    Foveal Hypoplasia 7
                      Foveal Hypoplasia and Anterior Segment Dysgenesis 1
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.