{
    "disease_id": "DOID:0050799",
    "recommended_name": {
        "id": "DOID:0050799",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050799",
        "name": "guanidinoacetate methyltransferase deficiency",
        "description": "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0050799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050799",
            "name": "GAMT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050799",
            "name": "Cerebral creatine deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "guanidinoacetate methyltransferase deficiency",
            "description": "A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations."
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "GAMT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "cerebral creatine deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "cerebral creatine deficiency syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "disorder of guanidinoacetate N-methyltransferase activity",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "guanidinoacetate N-methyltransferase activity disease",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "guanidinoacetate methyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "CCDS2",
            "description": ""
        },
        {
            "id": "MIM:612736",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612736",
            "name": "Cerebral creatine deficiency syndrome 2",
            "description": "Cerebral creatine deficiency syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050799"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050799",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050799",
            "categories": []
        },
        {
            "id": "MONDO:0012999",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "categories": []
        },
        {
            "id": "MIM:612736",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612736",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q71N41-1",
            "uniprot_ac": "Q71N41",
            "uniprot_id": "GAMT_DANRE",
            "refseq_ac": "NP_001099065",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanidinoacetate N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "guanidinoacetate N-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gamt",
                    "type": "recommended"
                },
                {
                    "name": "gamt",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123136",
                    "type": "synonym"
                }
            ],
            "record_id": "Q71N41-1",
            "evidence": [
                {
                    "id": "0050799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050799"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35969-1",
            "uniprot_ac": "O35969",
            "uniprot_id": "GAMT_MOUSE",
            "refseq_ac": "NP_001334048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanidinoacetate N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "guanidinoacetate N-methyltransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "guanidinoacetate N-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gamt",
                    "type": "recommended"
                },
                {
                    "name": "Gamt",
                    "type": "synonym"
                },
                {
                    "name": "Spintz1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35969-1",
            "evidence": [
                {
                    "id": "0050799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050799"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14353-1",
            "uniprot_ac": "Q14353",
            "uniprot_id": "GAMT_HUMAN",
            "refseq_ac": "NP_000147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanidinoacetate N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 20",
                    "type": "synonym"
                },
                {
                    "name": "guanidinoacetate N-methyltransferase isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAMT",
                    "type": "recommended"
                },
                {
                    "name": "CCDS2",
                    "type": "synonym"
                },
                {
                    "name": "GAMT",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-20",
                    "type": "synonym"
                },
                {
                    "name": "PIG2",
                    "type": "synonym"
                },
                {
                    "name": "TP53I2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14353-1",
            "evidence": [
                {
                    "id": "612736",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612736"
                },
                {
                    "id": "0050799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050799"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03305-1",
            "uniprot_ac": "Q03305",
            "uniprot_id": "RMT2_YEAST",
            "refseq_ac": "NP_010753",
            "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": "Protein arginine N-methyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Protein-arginine N5-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Type IV PRMT",
                    "type": "synonym"
                },
                {
                    "name": "Type IV protein arginine N-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "protein-arginine N5-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RMT2",
                    "type": "recommended"
                },
                {
                    "name": "RMT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03305-1",
            "evidence": [
                {
                    "id": "0050799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050799"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10868-1",
            "uniprot_ac": "P10868",
            "uniprot_id": "GAMT_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanidinoacetate N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gamt",
                    "type": "recommended"
                }
            ],
            "record_id": "P10868-1",
            "evidence": [
                {
                    "id": "0050799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050799"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050799"
}