{
    "disease_id": "DOID:0061293",
    "recommended_name": {
        "id": "DOID:0061293",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061293",
        "name": "Galloway-Mowat syndrome 10",
        "description": "A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that has_material_basis_in homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0030476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030476",
            "name": "Galloway-Mowat syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0030476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030476",
            "name": "GAMOS10",
            "description": ""
        },
        {
            "id": "MIM:619609",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619609",
            "name": "Galloway-Mowat syndrome 10",
            "description": "Galloway-Mowat syndrome 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061293"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061293",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061293",
            "categories": []
        },
        {
            "id": "MONDO:0030476",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030476",
            "categories": []
        },
        {
            "id": "MIM:619609",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619609",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q86U90-1",
            "uniprot_ac": "Q86U90",
            "uniprot_id": "YRDC_HUMAN",
            "refseq_ac": "NP_078916",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Threonylcarbamoyl-AMP synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.87",
                    "type": "synonym"
                },
                {
                    "name": "Dopamine receptor-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Ischemia/reperfusion-inducible protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "dopamine receptor interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "hIRIP",
                    "type": "synonym"
                },
                {
                    "name": "ischemia/reperfusion inducible protein",
                    "type": "synonym"
                },
                {
                    "name": "ischemia/reperfusion-inducible protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "threonylcarbamoyl-AMP synthase precursor",
                    "type": "synonym"
                },
                {
                    "name": "threonylcarbamoyl-AMP synthase",
                    "type": "synonym"
                },
                {
                    "name": "yrdC N(6)-threonylcarbamoyltransferase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "yrdC domain containing",
                    "type": "synonym"
                },
                {
                    "name": "yrdC domain-containing protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YRDC",
                    "type": "recommended"
                },
                {
                    "name": "DRIP3",
                    "type": "synonym"
                },
                {
                    "name": "GAMOS10",
                    "type": "synonym"
                },
                {
                    "name": "IRIP",
                    "type": "synonym"
                },
                {
                    "name": "SUA5",
                    "type": "synonym"
                },
                {
                    "name": "YRDC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86U90-1",
            "evidence": [
                {
                    "id": "619609",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619609"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061293"
}