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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:early-onset vitamin B6-dependent epilepsy 4
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Accession:DOID:0070519 term browser browse the term
Definition:A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (DO)
Synonyms:exact_synonym: AASA dehydrogenase deficiency;   EPEO4;   EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT;   PDE-ALDH7A1;   antiquitin deficiency
 primary_id: MIM:266100
 xref: NCI:C210888


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early-onset vitamin B6-dependent epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT OMIM
ClinVar		 PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr18:52,208,035...52,240,293
Ensembl chr18:52,204,161...52,240,467 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT ClinVar PMID:25741868 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        central nervous system disease 12644
          brain disease 11865
            epilepsy 2949
              early-onset epilepsy 11
                pyridoxine-dependent epilepsy 8
                  early-onset vitamin B6-dependent epilepsy 4 3
paths to the root