{
    "disease_id": "DOID:0060174",
    "recommended_name": {
        "id": "DOID:0060174",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060174",
        "name": "GABA aminotransferase deficiency",
        "description": "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde."
    },
    "synonyms": [
        {
            "id": "DOID:0060174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060174",
            "name": "Gamma-amino butyric acid transaminase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060174",
            "name": "gamma-aminobutyric acid transaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "GABA aminotransaminase deficiency",
            "description": "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration."
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "GABA aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "GABA transaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "gamma-aminobutyric acid transaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "4 alpha aminobutyrate transaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "ABAT",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "GABAT",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "gamma aminobutyrate transaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "name": "gamma aminobutyric acid transaminase deficiency",
            "description": ""
        },
        {
            "id": "MIM:613163",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613163",
            "name": "GABA-transaminase deficiency",
            "description": "GABA-transaminase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060174"
    ],
    "unlinked_id_list": []
}