{
    "disease_id": "DOID:0060742",
    "recommended_name": {
        "id": "DOID:0060742",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060742",
        "name": "methylmalonic acidemia cblA 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 MMAA gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "DOID:0060742",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060742",
            "name": "methylmalonic aciduria cblA type",
            "description": ""
        },
        {
            "id": "DOID:0060742",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060742",
            "name": "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type",
            "description": ""
        },
        {
            "id": "DOID:0060742",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060742",
            "name": "methylmalonic aciduria of the cblA complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "methylmalonic aciduria, cblA type",
            "description": "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein."
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "Methylmalonic aciduria, vitamin B12-responsive, cblA type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "cobalamin A disease",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "cobalamin B disease",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "methylmalonic acidemia cblA type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "methylmalonic acidemia, cblA type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "methylmalonic aciduria cblA type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "methylmalonic aciduria, cblA type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "vitamin B12-responsive methylmalonic acidemia type cblA",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "vitamin B12-responsive methylmalonic aciduria type cblA",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "MMA Cbl A type",
            "description": ""
        },
        {
            "id": "MONDO:0009613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "name": "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type",
            "description": ""
        },
        {
            "id": "MIM:251100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251100",
            "name": "Methylmalonic aciduria, cblA type",
            "description": "Methylmalonic aciduria, cblA type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060742"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060742",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060742",
            "categories": []
        },
        {
            "id": "MONDO:0009613",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009613",
            "categories": []
        },
        {
            "id": "MIM:251100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6Q8-1",
            "uniprot_ac": "A0ACD6B6Q8",
            "uniprot_id": "A0ACD6B6Q8_DANRE",
            "refseq_ac": "XP_017210786",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylmalonic aciduria type A protein, mitochondrial isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria type A protein, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmaa",
                    "type": "recommended"
                },
                {
                    "name": "mmaa",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171657",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6Q8-1",
            "evidence": [
                {
                    "id": "0060742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060742"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C7H1-1",
            "uniprot_ac": "Q8C7H1",
            "uniprot_id": "MMAA_MOUSE",
            "refseq_ac": "NP_598584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylmalonic aciduria type A homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria type A homolog, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria type A homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmaa",
                    "type": "recommended"
                },
                {
                    "name": "2810018E08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mmaa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C7H1-1",
            "evidence": [
                {
                    "id": "0060742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060742"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IVH4-1",
            "uniprot_ac": "Q8IVH4",
            "uniprot_id": "MMAA_HUMAN",
            "refseq_ac": "NP_758454",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylmalonic aciduria type A protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblA type",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria type A protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria type A protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mutant adenosylcobalamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMAA",
                    "type": "recommended"
                },
                {
                    "name": "MMAA",
                    "type": "synonym"
                },
                {
                    "name": "cblA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IVH4-1",
            "evidence": [
                {
                    "id": "251100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251100"
                },
                {
                    "id": "0060742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060742"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNY3-1",
            "uniprot_ac": "D3ZNY3",
            "uniprot_id": "D3ZNY3_RAT",
            "refseq_ac": "NP_001376190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabolism of cobalamin associated A",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblA type",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria type A protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmaa",
                    "type": "recommended"
                },
                {
                    "name": "Mmaa",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZNY3-1",
            "evidence": [
                {
                    "id": "0060742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060742"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060742"
}