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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: Childhood Progressive Bulbar Palsy;   Fazio Londe Syndrome;   progressive bulbar palsy of childhood;   riboflavin transporter deficiency neuronopathy
 primary_id: OMIM:211500
For additional species annotation, visit the Alliance of Genome Resources.


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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: Progressive bulbar palsy of childhood ClinVar
OMIM
PMID:21110228 PMID:25741868 PMID:28492532 PMID:29053833 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
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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
          motor neuron disease 378
            progressive bulbar palsy 31
              Fazio-Londe disease 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              motor neuron disease 378
                progressive bulbar palsy 31
                  Fazio-Londe disease 1
paths to the root