{
    "disease_id": "DOID:0050716",
    "recommended_name": {
        "id": "DOID:0050716",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050716",
        "name": "methylmalonic aciduria and homocystinuria type cblD",
        "description": "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities."
    },
    "synonyms": [
        {
            "id": "DOID:0050716",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050716",
            "name": "Cobalamin D deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050716",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050716",
            "name": "MAHCD",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "methylmalonic aciduria and homocystinuria type cblD",
            "description": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations."
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "cblD defect",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "cobalamin D defect",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "cobalamin d disease",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "methylmalonic aciduria and homocystinuria type cblD",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "methylmalonic aciduria with homocystinuria, type cblD",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "MAHCD",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "homocystinuria, cblD type, variant 1, included",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "mehtylmalonic acidemia with homocystinuria cbI d",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "methylmalonic acidemia with homocystinuria type cblD",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "methylmalonic acidemia, Cblh type",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "methylmalonic aciduria, Cblh type",
            "description": ""
        },
        {
            "id": "MONDO:0010185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "name": "methylmalonic aciduria, cblD type, variant 2, included",
            "description": ""
        },
        {
            "id": "MIM:277410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277410",
            "name": "Methylmalonic aciduria and homocystinuria, cblD type",
            "description": "Methylmalonic aciduria and homocystinuria, cblD type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050716"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050716",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050716",
            "categories": []
        },
        {
            "id": "MONDO:0010185",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010185",
            "categories": []
        },
        {
            "id": "MIM:277410",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277410",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0UYB6-1",
            "uniprot_ac": "B0UYB6",
            "uniprot_id": "B0UYB6_DANRE",
            "refseq_ac": "NP_991157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabolism of cobalamin associated Db",
                    "type": "synonym"
                },
                {
                    "name": "metabolism of cobalamin associated Db",
                    "type": "synonym"
                },
                {
                    "name": "metabolism of cobalamin associated D",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmadhcb",
                    "type": "recommended"
                },
                {
                    "name": "My011",
                    "type": "synonym"
                },
                {
                    "name": "mmadhcb",
                    "type": "synonym"
                },
                {
                    "name": "mmadhc",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91819",
                    "type": "synonym"
                }
            ],
            "record_id": "B0UYB6-1",
            "evidence": [
                {
                    "id": "0050716",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050716"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LS1-1",
            "uniprot_ac": "Q99LS1",
            "uniprot_id": "MMAD_MOUSE",
            "refseq_ac": "NP_598600",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cobalamin trafficking protein CblD",
                    "type": "recommended"
                },
                {
                    "name": "CblD",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin trafficking protein CblD isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin trafficking protein CblD",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria and homocystinuria type D homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmadhc",
                    "type": "recommended"
                },
                {
                    "name": "2010311D03Rik",
                    "type": "synonym"
                },
                {
                    "name": "CblD",
                    "type": "synonym"
                },
                {
                    "name": "Mmadhc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LS1-1",
            "evidence": [
                {
                    "id": "0050716",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050716"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H3L0-1",
            "uniprot_ac": "Q9H3L0",
            "uniprot_id": "MMAD_HUMAN",
            "refseq_ac": "NP_056517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cobalamin trafficking protein CblD",
                    "type": "recommended"
                },
                {
                    "name": "CblD",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria and homocystinuria type D protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin trafficking protein CblD",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria and homocystinuria type D protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein C2orf25, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMADHC",
                    "type": "recommended"
                },
                {
                    "name": "C2orf25",
                    "type": "synonym"
                },
                {
                    "name": "CL25022",
                    "type": "synonym"
                },
                {
                    "name": "HMAD",
                    "type": "synonym"
                },
                {
                    "name": "HSPC161",
                    "type": "synonym"
                },
                {
                    "name": "MACD",
                    "type": "synonym"
                },
                {
                    "name": "MAHCD",
                    "type": "synonym"
                },
                {
                    "name": "MMADHC",
                    "type": "synonym"
                },
                {
                    "name": "My011",
                    "type": "synonym"
                },
                {
                    "name": "cblD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3L0-1",
            "evidence": [
                {
                    "id": "277410",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277410"
                },
                {
                    "id": "0050716",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050716"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYQ6-1",
            "uniprot_ac": "Q6AYQ6",
            "uniprot_id": "MMAD_RAT",
            "refseq_ac": "NP_001004280",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cobalamin trafficking protein CblD",
                    "type": "recommended"
                },
                {
                    "name": "CblD",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin trafficking protein CblD precursor",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin trafficking protein CblD",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria and homocystinuria type D homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria and homocystinuria, cblD type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmadhc",
                    "type": "recommended"
                },
                {
                    "name": "CblD",
                    "type": "synonym"
                },
                {
                    "name": "Mmadhc",
                    "type": "synonym"
                },
                {
                    "name": "RGD1303272",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYQ6-1",
            "evidence": [
                {
                    "id": "0050716",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050716"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W375-1",
            "uniprot_ac": "Q9W375",
            "uniprot_id": "Q9W375_DROME",
            "refseq_ac": "NP_572537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG12118-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG12118",
                    "type": "recommended"
                },
                {
                    "name": "CG12118",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12118",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12118",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W375-1",
            "evidence": [
                {
                    "id": "0050716",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050716"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050716"
}