{
    "disease_id": "DOID:0060175",
    "recommended_name": {
        "id": "DOID:0060175",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060175",
        "name": "succinic semialdehyde dehydrogenase deficiency",
        "description": "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid."
    },
    "synonyms": [
        {
            "id": "DOID:0060175",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060175",
            "name": "4-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0060175",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060175",
            "name": "SSADH",
            "description": ""
        },
        {
            "id": "DOID:0060175",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060175",
            "name": "gamma-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "succinic semialdehyde dehydrogenase deficiency",
            "description": "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation."
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "4-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "SSADH",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "SSADH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "gamma-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "succinic semialdehyde dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "GABA metabolic defect",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "SSADHD",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "Ssadh deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "gamma-hydroxybutyricaciduria",
            "description": ""
        },
        {
            "id": "MIM:271980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271980",
            "name": "Succinic semialdehyde dehydrogenase deficiency",
            "description": "Succinic semialdehyde dehydrogenase deficiency"
        }
    ]
}