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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:NEUROOCULORENAL SYNDROME
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Accession:DOID:9001814 term browser browse the term
Definition:This disease is an autosomal recessive developmental disorder with highly variable clinical manifestations involving multiple organ systems. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain.
Synonyms:exact_synonym: NORS
 primary_id: MIM:620305


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NEUROOCULORENAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Neurooculorenal syndrome OMIM
ClinVar		 PMID:25741868 PMID:29194579 PMID:30692597 PMID:35227688 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7373
      eye disease 3721
        Eye Manifestations 7
          NEUROOCULORENAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          sensory system disease 7373
            eye disease 3721
              Eye Manifestations 7
                NEUROOCULORENAL SYNDROME 1
paths to the root