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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:Fazio-Londe disease
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Accession:DOID:0080632 term browser browse the term
Definition:A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. (DO)
Synonyms:exact_synonym: Fazio Londe syndrome;   childhood progressive bulbar palsy;   progressive bulbar palsy of childhood;   riboflavin transporter deficiency neuronopathy
 primary_id: OMIM:211500


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Fazio-Londe disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Childhood Progressive Bulbar Palsy | ClinVar Annotator: match by term: Progressive bulbar palsy of childhood OMIM
ClinVar		 PMID:20206331 PMID:20920669 PMID:21110228 PMID:22273710 PMID:22824638 More... NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        neurodegenerative disease 4906
          motor neuron disease 531
            progressive bulbar palsy 60
              Fazio-Londe disease 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              motor neuron disease 531
                progressive bulbar palsy 60
                  Fazio-Londe disease 1
paths to the root