{
    "disease_id": "DOID:0050733",
    "recommended_name": {
        "id": "DOID:0050733",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050733",
        "name": "methylmalonic aciduria and homocystinuria type cblG",
        "description": "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism."
    },
    "synonyms": [],
    "children": [],
    "id_list": [
        "DOID:0050733"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050733",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050733",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A6H5Y3-1",
            "uniprot_ac": "A6H5Y3",
            "uniprot_id": "METH_MOUSE",
            "refseq_ac": "NP_001074597",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "5-methyltetrahydrofolate--homocysteine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Cobalamin-dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "MS",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin-B12 dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin-dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin-B12 dependent methionine synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtr",
                    "type": "recommended"
                },
                {
                    "name": "D830038K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "MS",
                    "type": "synonym"
                },
                {
                    "name": "Mtr",
                    "type": "synonym"
                }
            ],
            "record_id": "A6H5Y3-1",
            "evidence": [
                {
                    "id": "0050733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12525-1",
            "uniprot_ac": "Q12525",
            "uniprot_id": "MHT1_YEAST",
            "refseq_ac": "NP_013038",
            "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": "Homocysteine S-methyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosylmethionine-homocysteine S-methyltransferase MHT1",
                    "type": "synonym"
                },
                {
                    "name": "S-methylmethionine:homocysteine methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "SMM:Hcy S-methyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MHT1",
                    "type": "recommended"
                },
                {
                    "name": "L0552",
                    "type": "synonym"
                },
                {
                    "name": "MHT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12525-1",
            "evidence": [
                {
                    "id": "0050733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2Q4-1",
            "uniprot_ac": "Q9Z2Q4",
            "uniprot_id": "METH_RAT",
            "refseq_ac": "NP_110491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "5-methyltetrahydrofolate--homocysteine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Cobalamin-dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "MS",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin-B12 dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin-dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin-B12 dependent methionine synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtr",
                    "type": "recommended"
                },
                {
                    "name": "Mtr",
                    "type": "synonym"
                },
                {
                    "name": "methioninesynthase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2Q4-1",
            "evidence": [
                {
                    "id": "0050733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ31-1",
            "uniprot_ac": "Q9VJ31",
            "uniprot_id": "BHMT_DROME",
            "refseq_ac": "NP_001286073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Betaine-homocysteine S-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "Betaine-homocysteine S-methyltransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Bhmt-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG10623-PB",
                    "type": "synonym"
                },
                {
                    "name": "betaine-homocysteine methyl-transferase",
                    "type": "synonym"
                },
                {
                    "name": "selenocysteine methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bhmt",
                    "type": "recommended"
                },
                {
                    "name": "Bhmt",
                    "type": "synonym"
                },
                {
                    "name": "CG10623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10623",
                    "type": "synonym"
                },
                {
                    "name": "Met-s",
                    "type": "synonym"
                },
                {
                    "name": "dBHMT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ31-1",
            "evidence": [
                {
                    "id": "0050733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ32-1",
            "uniprot_ac": "Q9VJ32",
            "uniprot_id": "Q9VJ32_DROME",
            "refseq_ac": "NP_001286071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hcy-binding domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10621-PB",
                    "type": "synonym"
                },
                {
                    "name": "selenocysteine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10621",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD26123",
                    "type": "synonym"
                },
                {
                    "name": "CG10621",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10621",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10621",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ32-1",
            "evidence": [
                {
                    "id": "0050733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050733"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99707-1",
            "uniprot_ac": "Q99707",
            "uniprot_id": "METH_HUMAN",
            "refseq_ac": "NP_000245",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "5-methyltetrahydrofolate--homocysteine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "5-methyltetrahydrofolate-homocysteine methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Cobalamin-dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "MS",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin-B12 dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin-dependent methionine synthase",
                    "type": "synonym"
                },
                {
                    "name": "methionine synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin-B12 dependent methionine synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTR",
                    "type": "recommended"
                },
                {
                    "name": "HMAG",
                    "type": "synonym"
                },
                {
                    "name": "MS",
                    "type": "synonym"
                },
                {
                    "name": "MTR",
                    "type": "synonym"
                },
                {
                    "name": "cblG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99707-1",
            "evidence": [
                {
                    "id": "0050733",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050733"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050733"
}