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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:cortical blindness
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Accession:DOID:11831 term browser browse the term
Definition:Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)
Synonyms:exact_synonym: Anton Babinski Syndrome;   Anton Syndrome;   Anton's Syndrome;   Antons Syndrome;   Blindness, Cortical, Post-Ictal;   Blindness, Cortical, Transient;   Psychic Denial of Blindness;   Reversible Cortical Blindness;   Reversible Cortical Blindnesses;   Transient Anton Syndrome;   Transient Anton's Syndrome;   Transient Antons Syndrome
 primary_id: MESH:D019575;   RDO:0007282
 xref: ICD10CM:H47.61;   ICD9CM:377.75;   NCI:C118707
For additional species annotation, visit the Alliance of Genome Resources.


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Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
OMIM
ClinVar
PMID:24781755, PMID:25558065, PMID:25741868, PMID:26463574 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        blindness 96
          cortical blindness 1
            Cortical Blindness, Retardation, and Postaxial Polydactyly 0
            Seizures, Cortical Blindness, and Microcephaly Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            Vision Disorders 198
              blindness 96
                cortical blindness 1
                  Cortical Blindness, Retardation, and Postaxial Polydactyly 0
                  Seizures, Cortical Blindness, and Microcephaly Syndrome 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.