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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:neurodegeneration with brain iron accumulation 2A
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Accession:DOID:0110735 term browser browse the term
Definition:An autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life. Pathologic findings include axonal swelling and spheroid bodies in the central nervous system. (OMIM)
Synonyms:exact_synonym: INAD;   INAD1;   Infantile neuroaxonal dystrophy 1;   NBIA2A;   PLAN;   Seitelberger disease;   Seitelberger's disease;   Seitelbergers disease;   infantile neuroaxonal dystrophy;   neurodegeneration, PLA2G6-associated
 primary_id: OMIM:256600
 alt_id: RDO:0008416
 xref: GARD:2751;   NCI:C84927
For additional species annotation, visit the Alliance of Genome Resources.


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neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO DNA:deletions, missense mutations, nonsense mutation: exon:multiple
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
OMIM
ClinVar
PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:18981035, PMID:19138334, PMID:19893029, PMID:20186954, PMID:20584031, PMID:20619503, PMID:20669327, PMID:20886109, PMID:20938027, PMID:20947703, PMID:21368765, PMID:21700586, PMID:21812034, PMID:22213678, PMID:22934738, PMID:23182313, PMID:24033266, PMID:24088041, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25174650, PMID:25326635, PMID:25326637, PMID:25660576, PMID:25741868, PMID:26196026, PMID:26467025, PMID:26539891, PMID:26633545, PMID:26668131, PMID:27127721, PMID:27196560, PMID:27268037, PMID:27294386, PMID:27378808, PMID:27709683, PMID:27942883, PMID:28295203, PMID:28492532, PMID:28821231, PMID:29124790, PMID:29915382, PMID:30042723, PMID:30065071, PMID:30232368, PMID:30302010, PMID:30340910, PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        neurodegenerative disease 3186
          neurodegeneration with brain iron accumulation 14
            neurodegeneration with brain iron accumulation 2A 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            cerebral degeneration 271
              neuroaxonal dystrophy 32
                neurodegeneration with brain iron accumulation 14
                  neurodegeneration with brain iron accumulation 2A 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.