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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:NEUROOCULAR SYNDROME 1
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Accession:DOID:9004543 term browser browse the term
Definition:This is a disease that encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development and eye abnormalities that show marked variability.
Synonyms:exact_synonym: PRR12-RELATED CONDITION
 broad_synonym: NEUROOCULAR SYNDROME;   NOC
 primary_id: MIM:619539


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NEUROOCULAR SYNDROME 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: Neuroocular syndrome | ClinVar Annotator: match by term: Neuroocular syndrome 1 | ClinVar Annotator: match by term: PRR12-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29556724 PMID:29758562 PMID:33314030 More... NCBI chr 1:95,510,015...95,534,002
Ensembl chr 1:95,509,931...95,533,652 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Neurodevelopmental Disorders 6962
        NEUROOCULAR SYNDROME 1 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            disease of mental health 8440
              Neurodevelopmental Disorders 6962
                NEUROOCULAR SYNDROME 1 1
paths to the root