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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        neurodegenerative disease 3216
          neurodegeneration with brain iron accumulation 15
            neurodegeneration with brain iron accumulation 2A 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            cerebral degeneration 269
              neuroaxonal dystrophy 33
                neurodegeneration with brain iron accumulation 15
                  neurodegeneration with brain iron accumulation 2A 1
paths to the root