{
    "disease_id": "DOID:0060743",
    "recommended_name": {
        "id": "DOID:0060743",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060743",
        "name": "methylmalonic acidemia cblB type",
        "description": "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060743",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060743",
            "name": "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type",
            "description": ""
        },
        {
            "id": "DOID:0060743",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060743",
            "name": "methylmalonic aciduria cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, cblB type",
            "description": "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial."
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic acidemia cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic acidemia, cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "methylmalonic aciduria, vitamin B12-responsive, cblB type",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "vitamin B12-responsive methylmalonic acidemia type cblB",
            "description": ""
        },
        {
            "id": "MONDO:0009614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "name": "vitamin B12-responsive methylmalonic aciduria, type cblB",
            "description": ""
        },
        {
            "id": "MIM:251110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251110",
            "name": "Methylmalonic aciduria, cblB type",
            "description": "Methylmalonic aciduria, cblB type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060743"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060743",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060743",
            "categories": []
        },
        {
            "id": "MONDO:0009614",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009614",
            "categories": []
        },
        {
            "id": "MIM:251110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251110",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BGN0-1",
            "uniprot_ac": "A2BGN0",
            "uniprot_id": "A2BGN0_DANRE",
            "refseq_ac": "NP_001076278",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Corrinoid adenosyltransferase MMAB",
                    "type": "recommended"
                },
                {
                    "name": "ATP:co(I)rrinoid adenosyltransferase MMAB",
                    "type": "synonym"
                },
                {
                    "name": "corrinoid adenosyltransferase MMAB",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblB type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmab",
                    "type": "recommended"
                },
                {
                    "name": "mmab",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-189p24.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BGN0-1",
            "evidence": [
                {
                    "id": "0060743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D273-1",
            "uniprot_ac": "Q9D273",
            "uniprot_id": "MMAB_MOUSE",
            "refseq_ac": "NP_084232",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Corrinoid adenosyltransferase MMAB",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP:co(I)rrinoid adenosyltransferase MMAB",
                    "type": "synonym"
                },
                {
                    "name": "ATP:cob(I)alamin adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria type B homolog",
                    "type": "synonym"
                },
                {
                    "name": "cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cob(II)alamin adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cob(II)yrinic acid a,c-diamide adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cobinamide/cobalamin adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "corrinoid adenosyltransferase MMAB isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "corrinoid adenosyltransferase MMAB",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) type B homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmab",
                    "type": "recommended"
                },
                {
                    "name": "9130222L19Rik",
                    "type": "synonym"
                },
                {
                    "name": "ATR",
                    "type": "synonym"
                },
                {
                    "name": "Mmab",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D273-1",
            "evidence": [
                {
                    "id": "0060743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EY8-1",
            "uniprot_ac": "Q96EY8",
            "uniprot_id": "MMAB_HUMAN",
            "refseq_ac": "NP_443077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Corrinoid adenosyltransferase MMAB",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP:co(I)rrinoid adenosyltransferase MMAB",
                    "type": "synonym"
                },
                {
                    "name": "ATP:cob(I)alamin adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ATP:corrinoid adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria type B protein",
                    "type": "synonym"
                },
                {
                    "name": "aquocob(I)alamin vitamin B12s adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cilia and flagella associated protein 23",
                    "type": "synonym"
                },
                {
                    "name": "cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cob(II)alamin adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cob(II)yrinic acid a,c-diamide adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cobinamide/cobalamin adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "corrinoid adenosyltransferase MMAB precursor",
                    "type": "synonym"
                },
                {
                    "name": "corrinoid adenosyltransferase MMAB",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblB type",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria type B protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMAB",
                    "type": "recommended"
                },
                {
                    "name": "ATR",
                    "type": "synonym"
                },
                {
                    "name": "CFAP23",
                    "type": "synonym"
                },
                {
                    "name": "MMAB",
                    "type": "synonym"
                },
                {
                    "name": "cblB",
                    "type": "synonym"
                },
                {
                    "name": "cob",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EY8-1",
            "evidence": [
                {
                    "id": "251110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251110"
                },
                {
                    "id": "0060743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L5G5-1",
            "uniprot_ac": "A0ABK0L5G5",
            "uniprot_id": "A0ABK0L5G5_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": "Corrinoid adenosyltransferase MMAB",
                    "type": "recommended"
                },
                {
                    "name": "ATP:co(I)rrinoid adenosyltransferase MMAB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmab",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L5G5-1",
            "evidence": [
                {
                    "id": "0060743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060743"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060743"
}