|
| General Information | |||
|---|---|---|---|
| Term | pyridoxamine 5'-phosphate oxidase deficiency | ID (Ontology) | DOID:0111329 (Human Disease) |
| Definition | A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. | ||
| Also Known As | "PNPO deficiency" ; "PNPO-related neonatal epileptic encephalopathy" ; "pyridoxal 5'-phosphate-dependent epilepsy" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
inherited metabolic disorder |__vitamin metabolic disorder |__pyridoxamine 5'-phosphate oxidase deficiency 10 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | vitamin metabolic disorder | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:10730 MESH:C566449 MIM:610090 ORDO:79096 SNOMEDCT_US_2023_03_01:724576005 UMLS_CUI:C1864723 |
|||