{
    "disease_id": "DOID:0050712",
    "recommended_name": {
        "id": "DOID:0050712",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050712",
        "name": "AGAT deficiency",
        "description": "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis."
    },
    "synonyms": [
        {
            "id": "DOID:0050712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050712",
            "name": "Cerebral creatine deficiency syndrome 3",
            "description": ""
        },
        {
            "id": "DOID:0050712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050712",
            "name": "arginine glycine amidinotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "AGAT deficiency",
            "description": "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy."
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "AGAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "CCDS3",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "GATM deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "L-arginine:glycine amidinotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "arginine:glycine amidinotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "cerebral creatine deficiency syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "cerebral creatine deficiency syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "creatine deficiency syndrome due to AGAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "disorder of glycine amidinotransferase activity",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "glycine amidinotransferase activity disease",
            "description": ""
        },
        {
            "id": "MIM:612718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612718",
            "name": "Cerebral creatine deficiency syndrome 3",
            "description": "Cerebral creatine deficiency syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050712"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050712",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050712",
            "categories": []
        },
        {
            "id": "MONDO:0012996",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "categories": []
        },
        {
            "id": "MIM:612718",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612718",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PH19-1",
            "uniprot_ac": "Q6PH19",
            "uniprot_id": "GATM_DANRE",
            "refseq_ac": "NP_955825",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine amidinotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "L-arginine:glycine amidinotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Transamidinase",
                    "type": "synonym"
                },
                {
                    "name": "agat",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gatm",
                    "type": "recommended"
                },
                {
                    "name": "cb409",
                    "type": "synonym"
                },
                {
                    "name": "gatm",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa08a06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65855",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PH19-1",
            "evidence": [
                {
                    "id": "0050712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050712"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D964-1",
            "uniprot_ac": "Q9D964",
            "uniprot_id": "GATM_MOUSE",
            "refseq_ac": "NP_080237",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine amidinotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "L-arginine:glycine amidinotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Transamidinase",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "transamidinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatm",
                    "type": "recommended"
                },
                {
                    "name": "1810003P21Rik",
                    "type": "synonym"
                },
                {
                    "name": "AT",
                    "type": "synonym"
                },
                {
                    "name": "Gatm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D964-1",
            "evidence": [
                {
                    "id": "0050712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050712"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50440-1",
            "uniprot_ac": "P50440",
            "uniprot_id": "GATM_HUMAN",
            "refseq_ac": "NP_001473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine amidinotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "L-arginine:glycine amidinotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Transamidinase",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase (L-arginine:glycine amidinotransferase)",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 19",
                    "type": "synonym"
                },
                {
                    "name": "transamidinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATM",
                    "type": "recommended"
                },
                {
                    "name": "AGAT",
                    "type": "synonym"
                },
                {
                    "name": "AT",
                    "type": "synonym"
                },
                {
                    "name": "CCDS3",
                    "type": "synonym"
                },
                {
                    "name": "FRTS1",
                    "type": "synonym"
                },
                {
                    "name": "FRTS",
                    "type": "synonym"
                },
                {
                    "name": "GATM",
                    "type": "synonym"
                },
                {
                    "name": "RFS",
                    "type": "synonym"
                }
            ],
            "record_id": "P50440-1",
            "evidence": [
                {
                    "id": "612718",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612718"
                },
                {
                    "id": "0050712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050712"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50442-1",
            "uniprot_ac": "P50442",
            "uniprot_id": "GATM_RAT",
            "refseq_ac": "NP_112293",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine amidinotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "L-arginine: glycine amidinotransferase",
                    "type": "synonym"
                },
                {
                    "name": "L-arginine:glycine amidinotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Transamidinase",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine amidinotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "l-arginine:glycine amidinotransferase",
                    "type": "synonym"
                },
                {
                    "name": "transamidinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatm",
                    "type": "recommended"
                },
                {
                    "name": "AT",
                    "type": "synonym"
                },
                {
                    "name": "Agat",
                    "type": "synonym"
                },
                {
                    "name": "Gatm",
                    "type": "synonym"
                }
            ],
            "record_id": "P50442-1",
            "evidence": [
                {
                    "id": "0050712",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050712"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050712"
}