{
    "disease_id": "DOID:0111329", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxal phosphate-responsive seizures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "PNPOD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxamine 5-prime-phosphate oxidase deficiency; PNPOD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxine 5' phosphate oxidase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxal 5'-phosphate-dependent epilepsy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "epileptic encephalopathy, neonatal, Pnpo-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "seizures, pyridoxine-resistant, PLP-sensitive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxamine 5'-oxidase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "PNPO deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxine-5'-phosphate oxidase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxal phosphate-dependent seizures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "PNPO-related neonatal epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012407", 
            "name": "pyridoxamine 5-prime-phosphate oxidase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111329", 
            "name": "PNPO deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111329", 
            "name": "PNPO-related neonatal epileptic encephalopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111329", 
            "name": "pyridoxal 5'-phosphate-dependent epilepsy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111329", 
            "name": "pyridoxal phosphate-dependent seizures"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111329", 
            "name": "pyridoxal phosphate-responsive seizures"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111329", 
            "name": "pyridoxamine 5'-oxidase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111329", 
            "name": "pyridoxamine 5-prime-phosphate oxidase deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/610090", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:610090", 
            "name": "Pyridoxine-5'-phosphate oxidase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111329", 
        "description": "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111329", 
        "name": "pyridoxamine 5'-phosphate oxidase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610090", 
            "id": "610090", 
            "database": "MIM"
        }
    ]
}
