Fazio-Londe Disease
Disease ID: disease_node_18000
Connections displayed (default: 10).
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| Dbxref | MIM:211500 |
|---|---|
| Subclassof | DOID_0050737, DOID_681 |
| Data Source | DOID |
| Synonyms | riboflavin transporter deficiency neuronopathy |
| Doid Label | Fazio-Londe disease |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18000 |
| Doid Id | DOID_0080632 |
| Label | Fazio-Londe Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Bulbar Palsy, Progressive(ID:disease_node_5878) (Disease)