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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:Retinal Dysplasia
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Accession:DOID:9006597 term browser browse the term
Definition:Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.
Synonyms:exact_synonym: Retinal Dysplasias
 primary_id: MESH:D015792;   RDO:0003599
For additional species annotation, visit the Alliance of Genome Resources.


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Retinal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Retinal dysplasia ClinVar PMID:9295268, PMID:10958761, PMID:16103129, PMID:24938718, PMID:25097241, PMID:25312043, PMID:25525159, PMID:26161775, PMID:26780318, PMID:27739528, PMID:28118664, PMID:28492532, PMID:30311386 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Crb1 crumbs cell polarity complex component 1 treatment ISO ClinVar Annotator: match by term: Retinal dysplasia ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23449718, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709, PMID:24346171 RGD:8552698 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr14:82,356,916...82,366,368
Ensembl chr14:82,356,916...82,366,368
JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar
PMID:15930898, PMID:22284827, PMID:24281367, PMID:25115524, PMID:25124931, PMID:25741868, PMID:25934493, PMID:25996076, PMID:26472404, PMID:27212378, PMID:28492532, PMID:28494495, PMID:28785766, PMID:32214227 NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        retinal disease 777
          Retinal Dysplasia 4
            Primary Retinal Dysplasia 0
            Reese Retinal Dysplasia 0
            microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            Hereditary Eye Diseases 572
              Retinal Dysplasia 4
                Primary Retinal Dysplasia 0
                Reese Retinal Dysplasia 0
                microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 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.