{
    "disease_id": "DOID:0061001",
    "recommended_name": {
        "id": "DOID:0061001",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061001",
        "name": "glycine encephalopathy 2",
        "description": "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0061001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061001",
            "name": "GCE2",
            "description": ""
        },
        {
            "id": "MONDO:0958192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958192",
            "name": "glycine encephalopathy 2",
            "description": ""
        },
        {
            "id": "MIM:620398",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620398",
            "name": "Glycine encephalopathy 2",
            "description": "Glycine encephalopathy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061001"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061001",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061001",
            "categories": []
        },
        {
            "id": "MONDO:0958192",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958192",
            "categories": []
        },
        {
            "id": "MIM:620398",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620398",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CFA2-1",
            "uniprot_ac": "Q8CFA2",
            "uniprot_id": "GCST_MOUSE",
            "refseq_ac": "NP_001013836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminomethyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.10",
                    "type": "synonym"
                },
                {
                    "name": "GCVT",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system T protein",
                    "type": "synonym"
                },
                {
                    "name": "aminomethyltransferase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "aminomethyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system T protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amt",
                    "type": "recommended"
                },
                {
                    "name": "Amt",
                    "type": "synonym"
                },
                {
                    "name": "EG434437",
                    "type": "synonym"
                },
                {
                    "name": "GCVT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFA2-1",
            "evidence": [
                {
                    "id": "0061001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48728-1",
            "uniprot_ac": "P48728",
            "uniprot_id": "GCST_HUMAN",
            "refseq_ac": "NP_000472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminomethyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.10",
                    "type": "synonym"
                },
                {
                    "name": "GCVT",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system T protein",
                    "type": "synonym"
                },
                {
                    "name": "aminomethyltransferase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "aminomethyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system T protein",
                    "type": "synonym"
                },
                {
                    "name": "nonketotic hyperglycinemia",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMT",
                    "type": "recommended"
                },
                {
                    "name": "AMT",
                    "type": "synonym"
                },
                {
                    "name": "GCE2",
                    "type": "synonym"
                },
                {
                    "name": "GCE",
                    "type": "synonym"
                },
                {
                    "name": "GCST",
                    "type": "synonym"
                },
                {
                    "name": "GCVT",
                    "type": "synonym"
                },
                {
                    "name": "NKH",
                    "type": "synonym"
                }
            ],
            "record_id": "P48728-1",
            "evidence": [
                {
                    "id": "620398",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620398"
                },
                {
                    "id": "0061001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48015-1",
            "uniprot_ac": "P48015",
            "uniprot_id": "GCST_YEAST",
            "refseq_ac": "NP_010302",
            "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": "Aminomethyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.10",
                    "type": "synonym"
                },
                {
                    "name": "GCVT",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system T protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycine decarboxylase complex subunit T",
                    "type": "synonym"
                },
                {
                    "name": "glycine decarboxylase subunit T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCV1",
                    "type": "recommended"
                },
                {
                    "name": "GCV1",
                    "type": "synonym"
                },
                {
                    "name": "GSD1",
                    "type": "synonym"
                },
                {
                    "name": "YD9335.05C",
                    "type": "synonym"
                }
            ],
            "record_id": "P48015-1",
            "evidence": [
                {
                    "id": "0061001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A0K6-1",
            "uniprot_ac": "A0A8I6A0K6",
            "uniprot_id": "A0A8I6A0K6_RAT",
            "refseq_ac": "NP_001014026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminomethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.10",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system T protein",
                    "type": "synonym"
                },
                {
                    "name": "aminomethyltransferase (glycine cleavage system protein T)",
                    "type": "synonym"
                },
                {
                    "name": "aminomethyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amt",
                    "type": "recommended"
                },
                {
                    "name": "Amt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A0K6-1",
            "evidence": [
                {
                    "id": "0061001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKR4-1",
            "uniprot_ac": "Q9VKR4",
            "uniprot_id": "Q9VKR4_DROME",
            "refseq_ac": "NP_609441",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminomethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.10",
                    "type": "synonym"
                },
                {
                    "name": "CG6415-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system T protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcst",
                    "type": "recommended"
                },
                {
                    "name": "151967_at",
                    "type": "synonym"
                },
                {
                    "name": "CG6415",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6415",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6415",
                    "type": "synonym"
                },
                {
                    "name": "anon-32Aa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKR4-1",
            "evidence": [
                {
                    "id": "0061001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061001"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061001"
}