{
    "disease_id": "DOID:0090031", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "peroxisomal multifunctional enzyme deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "17-Beta-hydroxysteroid dehydrogenase 4 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "D-bifunctional enzyme deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "bifunctional enzyme deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "peroxisomal multifunctional enzyme (MFE2) deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "17-BETA-hydroxysteroid dehydrogenase IV deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "peroxisomal bifunctional enzyme deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "pseudo-Zellweger syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "multifunctional enzyme deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "Pbfe deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009855", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009855", 
            "name": "DBP deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090031", 
        "description": "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090031", 
        "name": "D-bifunctional protein deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090031#disease-associations", 
            "id": "0090031", 
            "database": "Alliance of Genome Resources"
        }
    ]
}