{
    "disease_id": "DOID:14755",
    "recommended_name": {
        "id": "DOID:14755",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14755",
        "name": "argininosuccinic aciduria",
        "description": "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine."
    },
    "synonyms": [
        {
            "id": "DOID:14755",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14755",
            "name": "Argininosuccinate lyase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14755",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14755",
            "name": "argininosuccinic acidemia",
            "description": ""
        },
        {
            "id": "DOID:14755",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14755",
            "name": "arginosuccinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14755",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14755",
            "name": "deficiency of argininosuccinate lyase",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "argininosuccinic aciduria",
            "description": "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction."
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "argininosuccinic acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "Argininosuccinatelyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "ASL deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "argininosuccinate lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "argininosuccinic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "Argininosuccinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "Argininosuccinicaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "argininosuccinate acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "ASA deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "arginino succinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "argininosuccinic acid lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "Asl deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "arginosuccinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "urea cycle disorder, arginino succinase type",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "deficiency of argininosuccinate lyase",
            "description": ""
        },
        {
            "id": "MONDO:0008815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008815",
            "name": "inborn error of urea synthesis, arginino succinic type",
            "description": ""
        },
        {
            "id": "MIM:207900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/207900",
            "name": "Argininosuccinic aciduria",
            "description": "Argininosuccinic aciduria"
        }
    ]
}