{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0060174",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060174",
            "categories": []
        },
        {
            "id": "MONDO:0013166",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013166",
            "categories": []
        },
        {
            "id": "MIM:613163",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613163",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "I3IRW7-1",
            "uniprot_ac": "I3IRW7",
            "uniprot_id": "I3IRW7_DANRE",
            "refseq_ac": "NP_958906",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA-T",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abat",
                    "type": "recommended"
                },
                {
                    "name": "abat",
                    "type": "synonym"
                },
                {
                    "name": "cb880",
                    "type": "synonym"
                },
                {
                    "name": "fj82a01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj82a01",
                    "type": "synonym"
                }
            ],
            "record_id": "I3IRW7-1",
            "evidence": [
                {
                    "id": "0060174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61922-1",
            "uniprot_ac": "P61922",
            "uniprot_id": "GABT_MOUSE",
            "refseq_ac": "NP_001164449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "GABA-T",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                },
                {
                    "name": "beta-alanine oxoglutarate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abat",
                    "type": "recommended"
                },
                {
                    "name": "9630038C02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abat",
                    "type": "synonym"
                },
                {
                    "name": "Gabaat",
                    "type": "synonym"
                },
                {
                    "name": "Gabat",
                    "type": "synonym"
                },
                {
                    "name": "Gm9851",
                    "type": "synonym"
                },
                {
                    "name": "I54",
                    "type": "synonym"
                },
                {
                    "name": "Laibat",
                    "type": "synonym"
                }
            ],
            "record_id": "P61922-1",
            "evidence": [
                {
                    "id": "0060174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80404-1",
            "uniprot_ac": "P80404",
            "uniprot_id": "GABT_HUMAN",
            "refseq_ac": "NP_000654",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "GABA-T",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                },
                {
                    "name": "gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyrate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABAT",
                    "type": "recommended"
                },
                {
                    "name": "ABAT",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "GABAT",
                    "type": "synonym"
                },
                {
                    "name": "NPD009",
                    "type": "synonym"
                }
            ],
            "record_id": "P80404-1",
            "evidence": [
                {
                    "id": "613163",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613163"
                },
                {
                    "id": "0060174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17649-1",
            "uniprot_ac": "P17649",
            "uniprot_id": "GABAT_YEAST",
            "refseq_ac": "NP_011533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-aminobutyrate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UGA1",
                    "type": "recommended"
                },
                {
                    "name": "UGA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17649-1",
            "evidence": [
                {
                    "id": "0060174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50554-1",
            "uniprot_ac": "P50554",
            "uniprot_id": "GABT_RAT",
            "refseq_ac": "NP_112265",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "GABA-T",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                },
                {
                    "name": "beta-AlaAT I",
                    "type": "synonym"
                },
                {
                    "name": "gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abat",
                    "type": "recommended"
                },
                {
                    "name": "Abat",
                    "type": "synonym"
                },
                {
                    "name": "Gabat",
                    "type": "synonym"
                },
                {
                    "name": "beta-AlaAT",
                    "type": "synonym"
                }
            ],
            "record_id": "P50554-1",
            "evidence": [
                {
                    "id": "0060174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW68-1",
            "uniprot_ac": "Q9VW68",
            "uniprot_id": "Q9VW68_DROME",
            "refseq_ac": "NP_001163479",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "CG7433-PC",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Gabat-PC",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-aminobutyric acid transaminase isoform A",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                },
                {
                    "name": "gamma aminobutyric acid transaminase",
                    "type": "synonym"
                },
                {
                    "name": "gamma aminobutyric acid",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid transaminase, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabat",
                    "type": "recommended"
                },
                {
                    "name": "149085_at",
                    "type": "synonym"
                },
                {
                    "name": "CG7433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7433",
                    "type": "synonym"
                },
                {
                    "name": "GABAT",
                    "type": "synonym"
                },
                {
                    "name": "GABA",
                    "type": "synonym"
                },
                {
                    "name": "Gabat",
                    "type": "synonym"
                },
                {
                    "name": "Q9VW68",
                    "type": "synonym"
                },
                {
                    "name": "gabat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW68-1",
            "evidence": [
                {
                    "id": "0060174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060174"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060174"
}