FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Fazio-Londe disease ID (Ontology) DOID:0080632 (Human Disease)
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.
Also Known As "riboflavin transporter deficiency neuronopathy"
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 Genes
 Fazio-Londe disease       1
 for disease ribbon | Fazio-Londe disease       1
 model of | Fazio-Londe disease       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
motor neuron disease             |
 |__progressive bulbar palsy_____|
                                 Fazio-Londe disease  1 rec.
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Is a autosomal recessive disease
progressive bulbar palsy
Part of
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Synonyms
  • "riboflavin transporter deficiency neuronopathy" EXACT
Secondary IDs
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MIM:211500