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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:Aicardi syndrome
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Accession:DOID:8461 term browser browse the term
Definition:A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. (DO)
Synonyms:exact_synonym: AIC;   Agenesis of Corpus Callosum with Chorioretinal Abnormality;   Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities;   Aicardi's Syndrome;   Callosal Agenesis and Ocular Abnormalities;   chorioretinal anomalies with ACC
 primary_id: MESH:D058540
 alt_id: MIM:304050
 xref: EFO:0000247;   GARD:5764;   MONDO:0010568;   NCI:C35256;   ORDO:50
For additional species annotation, visit the Alliance of Genome Resources.


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Aicardi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Aicardi syndrome ClinVar PMID:25741868 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Aicardi syndrome 1
Path 2
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7255
            eye disease 3731
              Hereditary Eye Diseases 1120
                Aicardi syndrome 1
paths to the root