{
    "disease_id": "DOID:0050762", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "adenylosuccinate lyase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "ADSL deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "ADSLD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "adenylosuccinase deficiency; ADSLD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "adenylosuccinase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007068", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007068", 
            "name": "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050762", 
        "description": "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050762", 
        "name": "adenylosuccinase lyase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050762#disease-associations", 
            "id": "0050762", 
            "database": "Alliance of Genome Resources"
        }
    ]
}