OBO ID: DOID:0080632
Term Name: Fazio-Londe disease Search Ontology:
Synonyms:
  • riboflavin transporter deficiency neuronopathy
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. https://www.ncbi.nlm.nih.gov/books/NBK299312/
References:
Ontology: Human Disease   (DOID:0080632)
OTHER Fazio-Londe disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC52A3 ?Fazio-Londe disease 211500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None