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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: MIM:618451

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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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30915432 PMID:31243445 NCBI chr26:4,842,328...4,905,941
Ensembl chr26:4,842,122...4,905,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14910
      nervous system disease 13001
        neurodegenerative disease 4682
          NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
Path 2
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14910
      Hemic and Lymphatic Diseases 3624
        hematopoietic system disease 3151
          anemia 745
            microcytic anemia 224
              NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
paths to the root