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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:Primary Aldosteronism, Seizures, and Neurologic Abnormalities
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Accession:DOID:9003830 term browser browse the term
Synonyms:exact_synonym: PASNA
 primary_id: OMIM:615474;   RDO:9000958
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by OMIM:615474
ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
OMIM
ClinVar
PMID:23913001 PMID:25741868 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        Neurologic Manifestations 5301
          visual epilepsy 792
            Primary Aldosteronism, Seizures, and Neurologic Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          eye disease 2649
            visual pathway disease 794
              visual cortex disease 792
                visual epilepsy 792
                  Primary Aldosteronism, Seizures, and Neurologic Abnormalities 1
paths to the root