{
    "disease_id": "DOID:0050762",
    "recommended_name": {
        "id": "DOID:0050762",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050762",
        "name": "adenylosuccinase lyase deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "adenylosuccinate lyase deficiency",
            "description": "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features."
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "ADSL deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "ADSLD",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "adenylosuccinase deficiency; ADSLD",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/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",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "adenylosuccinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "adenylosuccinase lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "Adsl deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007068",
            "name": "adenylosuccinate lyase deficiency",
            "description": ""
        },
        {
            "id": "MIM:103050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/103050",
            "name": "Adenylosuccinase deficiency",
            "description": "Adenylosuccinase deficiency"
        }
    ]
}