{
    "disease_id": "DOID:0080245",
    "recommended_name": {
        "id": "DOID:0080245",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080245",
        "name": "Galloway-Mowat syndrome 3",
        "description": "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0033007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033007",
            "name": "Galloway-Mowat syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0033007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033007",
            "name": "Galloway-Mowat syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0033007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033007",
            "name": "GAMOS3",
            "description": ""
        },
        {
            "id": "MIM:617729",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617729",
            "name": "Galloway-Mowat syndrome 3",
            "description": "Galloway-Mowat syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080245"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080245",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080245",
            "categories": []
        },
        {
            "id": "MONDO:0033007",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033007",
            "categories": []
        },
        {
            "id": "MIM:617729",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617729",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RHZ6-1",
            "uniprot_ac": "Q5RHZ6",
            "uniprot_id": "OSGEP_DANRE",
            "refseq_ac": "NP_001017751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein osgep",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein osgep",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "osgep",
                    "type": "recommended"
                },
                {
                    "name": "fj38e02",
                    "type": "synonym"
                },
                {
                    "name": "osgep",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-214j24.11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj38e02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112527",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RHZ6-1",
            "evidence": [
                {
                    "id": "0080245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWU5-1",
            "uniprot_ac": "Q8BWU5",
            "uniprot_id": "OSGEP_MOUSE",
            "refseq_ac": "NP_598437",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "N6-L-threonylcarbamoyladenine synthase",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "mOsgep",
                    "type": "synonym"
                },
                {
                    "name": "probable O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Osgep",
                    "type": "recommended"
                },
                {
                    "name": "1500019L24Rik",
                    "type": "synonym"
                },
                {
                    "name": "GCPL-1",
                    "type": "synonym"
                },
                {
                    "name": "Osgep",
                    "type": "synonym"
                },
                {
                    "name": "PRSMG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BWU5-1",
            "evidence": [
                {
                    "id": "0080245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPF4-1",
            "uniprot_ac": "Q9NPF4",
            "uniprot_id": "OSGEP_HUMAN",
            "refseq_ac": "NP_060277",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "N6-L-threonylcarbamoyladenine synthase",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "hOSGEP",
                    "type": "synonym"
                },
                {
                    "name": "probable O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OSGEP",
                    "type": "recommended"
                },
                {
                    "name": "GAMOS3",
                    "type": "synonym"
                },
                {
                    "name": "GCPL1",
                    "type": "synonym"
                },
                {
                    "name": "KAE1",
                    "type": "synonym"
                },
                {
                    "name": "OSGEP1",
                    "type": "synonym"
                },
                {
                    "name": "OSGEP",
                    "type": "synonym"
                },
                {
                    "name": "PRSMG1",
                    "type": "synonym"
                },
                {
                    "name": "TCS3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPF4-1",
            "evidence": [
                {
                    "id": "617729",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617729"
                },
                {
                    "id": "0080245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36132-1",
            "uniprot_ac": "P36132",
            "uniprot_id": "KAE1_YEAST",
            "refseq_ac": "NP_012964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "Kinase-associated endopeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "N6-L-threonylcarbamoyladenine synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein KAE1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein KAE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KAE1",
                    "type": "recommended"
                },
                {
                    "name": "KAE1",
                    "type": "synonym"
                }
            ],
            "record_id": "P36132-1",
            "evidence": [
                {
                    "id": "0080245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVS2-1",
            "uniprot_ac": "Q9WVS2",
            "uniprot_id": "OSGEP_RAT",
            "refseq_ac": "NP_001093980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "N6-L-threonylcarbamoyladenine synthase",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotease",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Prsmg1/Gcpl1",
                    "type": "synonym"
                },
                {
                    "name": "pasteurella haemolytica metalloprotease homolog with glycoprotein substrates/gpc-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "probable O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Osgep",
                    "type": "recommended"
                },
                {
                    "name": "Gcpl1",
                    "type": "synonym"
                },
                {
                    "name": "Osgep",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVS2-1",
            "evidence": [
                {
                    "id": "0080245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV41-1",
            "uniprot_ac": "Q9VV41",
            "uniprot_id": "OSGEP_DROME",
            "refseq_ac": "NP_648880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "CG4933-PA",
                    "type": "synonym"
                },
                {
                    "name": "N6-L-threonylcarbamoyladenine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Tcs3-PA",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-carbamoyl synthesis 3",
                    "type": "synonym"
                },
                {
                    "name": "black spot",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 72Fb",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein Tcs3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA adenosine(37) threonylcarbamoyltransferase complex, transferase subunit",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein Tcs3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcs3",
                    "type": "recommended"
                },
                {
                    "name": "CG4933",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4933",
                    "type": "synonym"
                },
                {
                    "name": "Tcs3",
                    "type": "synonym"
                },
                {
                    "name": "kae1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Fb",
                    "type": "synonym"
                },
                {
                    "name": "tcs3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV41-1",
            "evidence": [
                {
                    "id": "0080245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080245"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080245"
}