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Primary Aldosteronism, Seizures, and Neurologic Abnormalities - Ontology Report - Rat Genome Database

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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
 broad_synonym: CACNA1D-RELATED CONDITION;   CACNA1D-RELATED DISORDER
 primary_id: MIM:615474
 alt_id: RDO:9000958
 xref: NCI:C188151

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Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624822:3,391,045...3,734,258
Ensembl chrNW_004624822:3,392,044...3,919,415 		JBrowse link
G G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr22:14,868,459...15,195,002
Ensembl chr22:15,027,565...15,197,101 		JBrowse link
G P CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662 		JBrowse link
G S Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936473:4,164,633...4,479,866
Ensembl chrNW_004936473:4,037,533...4,478,073 		JBrowse link
G D CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G B CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444 		JBrowse link
G C Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592 		JBrowse link
G R Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
G M Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412 		JBrowse link
G H CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G H LOC129936904 ATAC-STARR-seq lymphoblastoid active region 19969 IAGP ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by term: CACNA1D-related disorder		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:53,749,273...53,749,472 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          visual epilepsy 1955
            Primary Aldosteronism, Seizures, and Neurologic Abnormalities 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              visual pathway disease 1997
                visual cortex disease 1967
                  visual epilepsy 1955
                    Primary Aldosteronism, Seizures, and Neurologic Abnormalities 11
paths to the root