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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, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
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Accession:DOID:9009167 term browser browse the term
Definition:An autosomal recessive disorder characterized by severe psychomotor developmental abnormalities and functional iron deficiency.
Synonyms:exact_synonym: NDCAMA;   NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
 primary_id: OMIM:618451
For additional species annotation, visit the Alliance of Genome Resources.



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NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
OMIM
ClinVar
PMID:25741868 PMID:30915432 PMID:31243445 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        neurodegenerative disease 3527
          NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
Path 2
Term Annotations click to browse term
  disease 17286
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        acquired metabolic disease 2898
          nutrition disease 920
            Malnutrition 225
              nutritional deficiency disease 216
                iron deficiency anemia 81
                  microcytic anemia 64
                    NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
paths to the root