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DO Term : Fazio-Londe disease [DOID:0080632] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
riboflavin transporter deficiency neuronopathy,
OMIM:211500,
211500

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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