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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:NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
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Accession:DOID:9009104 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by impaired intellectual development and childhood-onset optic atrophy or ataxia.
Synonyms:exact_synonym: NEDOA
 broad_synonym: SNF8-ASSOCIATED DISEASE
 xref: MIM:620784


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NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNF8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Neurodevelopmental disorder plus optic atrophy ClinVar
OMIM		 PMID:38423010 NCBI chr12:25,142,748...25,152,847
Ensembl chr12:25,142,813...25,153,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15344
    Developmental Disease 13351
      Neurodevelopmental Disorders 6746
        NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY 1
Path 2
Term Annotations click to browse term
  disease 15344
    Pathological Conditions, Signs and Symptoms 11989
      Signs and Symptoms 10008
        Neurologic Manifestations 9705
          sensory system disease 6811
            eye disease 3572
              optic nerve disease 363
                optic atrophy 190
                  NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY 1
paths to the root