{
    "disease_id": "DOID:0060650",
    "recommended_name": {
        "id": "DOID:0060650",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060650",
        "name": "dicarboxylic aminoaciduria",
        "description": "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids."
    },
    "synonyms": [
        {
            "id": "DOID:0060650",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060650",
            "name": "glutamate-aspartate transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0009110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009110",
            "name": "dicarboxylic aminoaciduria",
            "description": "Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit."
        },
        {
            "id": "MONDO:0009110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009110",
            "name": "dicarboxylic aminoaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009110",
            "name": "glutamate-aspartate transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0009110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009110",
            "name": "DCBXA",
            "description": ""
        },
        {
            "id": "MONDO:0009110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009110",
            "name": "Dicarboxylicaminoaciduria",
            "description": ""
        },
        {
            "id": "MIM:222730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222730",
            "name": "Dicarboxylic aminoaciduria",
            "description": "Dicarboxylic aminoaciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060650"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060650",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060650",
            "categories": []
        },
        {
            "id": "MONDO:0009110",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009110",
            "categories": []
        },
        {
            "id": "MIM:222730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51906-1",
            "uniprot_ac": "P51906",
            "uniprot_id": "EAA3_MOUSE",
            "refseq_ac": "NP_033225",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Excitatory amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Excitatory amino-acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid carrier 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino-acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate transporter mEAAC2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a1",
                    "type": "recommended"
                },
                {
                    "name": "D130048G10Rik",
                    "type": "synonym"
                },
                {
                    "name": "EAAC1",
                    "type": "synonym"
                },
                {
                    "name": "EAAC2",
                    "type": "synonym"
                },
                {
                    "name": "EAAT3",
                    "type": "synonym"
                },
                {
                    "name": "Eaac1",
                    "type": "synonym"
                },
                {
                    "name": "Eaat3",
                    "type": "synonym"
                },
                {
                    "name": "MEAAC1",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51906-1",
            "evidence": [
                {
                    "id": "0060650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43005-1",
            "uniprot_ac": "P43005",
            "uniprot_id": "EAA3_HUMAN",
            "refseq_ac": "NP_004161",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Excitatory amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Excitatory amino-acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal and epithelial glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "neuronal and epithelial glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC1A1",
                    "type": "recommended"
                },
                {
                    "name": "DCBXA",
                    "type": "synonym"
                },
                {
                    "name": "EAAC1",
                    "type": "synonym"
                },
                {
                    "name": "EAAT3",
                    "type": "synonym"
                },
                {
                    "name": "HEAAC1",
                    "type": "synonym"
                },
                {
                    "name": "SCZD18",
                    "type": "synonym"
                },
                {
                    "name": "SLC1A1",
                    "type": "synonym"
                },
                {
                    "name": "hEAAC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43005-1",
            "evidence": [
                {
                    "id": "222730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222730"
                },
                {
                    "id": "0060650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51907-1",
            "uniprot_ac": "P51907",
            "uniprot_id": "EAA3_RAT",
            "refseq_ac": "NP_037164",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Excitatory amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Excitatory amino-acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 A1 (brain glutamate transporter)",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino-acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a1",
                    "type": "recommended"
                },
                {
                    "name": "Eaac1",
                    "type": "synonym"
                },
                {
                    "name": "Eaat3",
                    "type": "synonym"
                },
                {
                    "name": "REAAC1",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51907-1",
            "evidence": [
                {
                    "id": "0060650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6H2EJK0-1",
            "uniprot_ac": "A0A6H2EJK0",
            "uniprot_id": "A0A6H2EJK0_DROME",
            "refseq_ac": "NP_001369123",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG3747-PF",
                    "type": "synonym"
                },
                {
                    "name": "Eaat1-PF",
                    "type": "synonym"
                },
                {
                    "name": "drosophila glutamate transporter-1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent excitatory amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-excitatory-glutamate-cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eaat1",
                    "type": "recommended"
                },
                {
                    "name": "AF001784",
                    "type": "synonym"
                },
                {
                    "name": "CG3747",
                    "type": "synonym"
                },
                {
                    "name": "Dglt-1",
                    "type": "synonym"
                },
                {
                    "name": "Dglut-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3747",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3747",
                    "type": "synonym"
                },
                {
                    "name": "EAAT1",
                    "type": "synonym"
                },
                {
                    "name": "EAAT",
                    "type": "synonym"
                },
                {
                    "name": "Eaat 1",
                    "type": "synonym"
                },
                {
                    "name": "Eaat1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT",
                    "type": "synonym"
                },
                {
                    "name": "dEAAT1",
                    "type": "synonym"
                },
                {
                    "name": "dEAAT",
                    "type": "synonym"
                },
                {
                    "name": "dEaat1",
                    "type": "synonym"
                },
                {
                    "name": "eaat1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6H2EJK0-1",
            "evidence": [
                {
                    "id": "0060650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14314-1",
            "uniprot_ac": "Q14314",
            "uniprot_id": "FGL2_HUMAN",
            "refseq_ac": "NP_006673",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroleukin",
                    "type": "recommended"
                },
                {
                    "name": "Fibrinogen-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fibrinogen-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fibroleukin precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroleukin",
                    "type": "synonym"
                },
                {
                    "name": "pT49",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGL2",
                    "type": "recommended"
                },
                {
                    "name": "FGL2",
                    "type": "synonym"
                },
                {
                    "name": "T49",
                    "type": "synonym"
                },
                {
                    "name": "pT49",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14314-1",
            "evidence": [
                {
                    "id": "0060650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060650"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060650"
}