{
    "disease_id": "DOID:0060741",
    "recommended_name": {
        "id": "DOID:0060741",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060741",
        "name": "methylmalonic acidemia due to transcobalamin receptor defect",
        "description": "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060741",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060741",
            "name": "methylmalonic acidemia, TCblR type",
            "description": ""
        },
        {
            "id": "DOID:0060741",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060741",
            "name": "methylmalonic aciduria due to transcobalamin receptor defect",
            "description": ""
        },
        {
            "id": "MONDO:0013341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013341",
            "name": "methylmalonic acidemia due to transcobalamin receptor defect",
            "description": "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported."
        },
        {
            "id": "MONDO:0013341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013341",
            "name": "CD320 methylmalonic acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0013341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013341",
            "name": "methylmalonic acidemia caused by mutation in CD320",
            "description": ""
        },
        {
            "id": "MONDO:0013341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013341",
            "name": "methylmalonic acidemia, TCb1R type",
            "description": ""
        },
        {
            "id": "MONDO:0013341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013341",
            "name": "methylmalonic acidemia, TCbIR type",
            "description": ""
        },
        {
            "id": "MONDO:0013341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013341",
            "name": "methylmalonic aciduria due to transcobalamin receptor defect",
            "description": ""
        },
        {
            "id": "MIM:613646",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613646",
            "name": "Methylmalonic aciduria, transient, due to transcobalamin receptor defect",
            "description": "Methylmalonic aciduria, transient, due to transcobalamin receptor defect"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060741"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060741",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060741",
            "categories": []
        },
        {
            "id": "MONDO:0013341",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013341",
            "categories": []
        },
        {
            "id": "MIM:613646",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613646",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z1P5-1",
            "uniprot_ac": "Q9Z1P5",
            "uniprot_id": "CD320_MOUSE",
            "refseq_ac": "NP_001292098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD320 antigen",
                    "type": "recommended"
                },
                {
                    "name": "CD320 antigen isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "TCblR",
                    "type": "synonym"
                },
                {
                    "name": "Transcobalamin receptor",
                    "type": "synonym"
                },
                {
                    "name": "putative VLDL lipoprotein receptor",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd320",
                    "type": "recommended"
                },
                {
                    "name": "425O18-1",
                    "type": "synonym"
                },
                {
                    "name": "8D6",
                    "type": "synonym"
                },
                {
                    "name": "Cd320",
                    "type": "synonym"
                },
                {
                    "name": "D17Ertd716e",
                    "type": "synonym"
                },
                {
                    "name": "NG29",
                    "type": "synonym"
                },
                {
                    "name": "TCblR",
                    "type": "synonym"
                },
                {
                    "name": "VLDL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1P5-1",
            "evidence": [
                {
                    "id": "0060741",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060741"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPF0-1",
            "uniprot_ac": "Q9NPF0",
            "uniprot_id": "CD320_HUMAN",
            "refseq_ac": "NP_001159367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD320 antigen",
                    "type": "recommended"
                },
                {
                    "name": "8D6 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CD320 antigen isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "CD320 antigen",
                    "type": "synonym"
                },
                {
                    "name": "FDC-SM-8D6",
                    "type": "synonym"
                },
                {
                    "name": "FDC-signaling molecule 8D6",
                    "type": "synonym"
                },
                {
                    "name": "TCblR",
                    "type": "synonym"
                },
                {
                    "name": "Transcobalamin receptor",
                    "type": "synonym"
                },
                {
                    "name": "soluble CD320",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin 2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD320",
                    "type": "recommended"
                },
                {
                    "name": "8D6A",
                    "type": "synonym"
                },
                {
                    "name": "8D6",
                    "type": "synonym"
                },
                {
                    "name": "CD320",
                    "type": "synonym"
                },
                {
                    "name": "PRO224",
                    "type": "synonym"
                },
                {
                    "name": "TCBLR",
                    "type": "synonym"
                },
                {
                    "name": "TCII-R",
                    "type": "synonym"
                },
                {
                    "name": "TCN2R",
                    "type": "synonym"
                },
                {
                    "name": "sCD320",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPF0-1",
            "evidence": [
                {
                    "id": "613646",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613646"
                },
                {
                    "id": "0060741",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060741"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HZW5-1",
            "uniprot_ac": "Q5HZW5",
            "uniprot_id": "CD320_RAT",
            "refseq_ac": "NP_001014223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD320 antigen",
                    "type": "recommended"
                },
                {
                    "name": "CD320 antigen isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "CD320 antigen-like",
                    "type": "synonym"
                },
                {
                    "name": "CD320 antigen",
                    "type": "synonym"
                },
                {
                    "name": "TCblR",
                    "type": "synonym"
                },
                {
                    "name": "Transcobalamin receptor",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd320",
                    "type": "recommended"
                },
                {
                    "name": "Ndufa7",
                    "type": "recommended"
                },
                {
                    "name": "Cd320",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa7",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305860",
                    "type": "synonym"
                },
                {
                    "name": "TCblR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HZW5-1",
            "evidence": [
                {
                    "id": "0060741",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060741"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLZ6-1",
            "uniprot_ac": "Q9VLZ6",
            "uniprot_id": "Q9VLZ6_DROME",
            "refseq_ac": "NP_609130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "FZ domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG6739-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6739",
                    "type": "recommended"
                },
                {
                    "name": "CG6739",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6739",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6739",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLZ6-1",
            "evidence": [
                {
                    "id": "0060741",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060741"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQA9-1",
            "uniprot_ac": "Q8IQA9",
            "uniprot_id": "Q8IQA9_DROME",
            "refseq_ac": "NP_729364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17352-PA",
                    "type": "synonym"
                },
                {
                    "name": "CUB and LDLa domain, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "CUB- and LDLa- domain",
                    "type": "synonym"
                },
                {
                    "name": "Culd-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Culd",
                    "type": "recommended"
                },
                {
                    "name": "CG17352",
                    "type": "synonym"
                },
                {
                    "name": "CT33100",
                    "type": "synonym"
                },
                {
                    "name": "CULD",
                    "type": "synonym"
                },
                {
                    "name": "Culd",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17352",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17352",
                    "type": "synonym"
                },
                {
                    "name": "cg17352",
                    "type": "synonym"
                },
                {
                    "name": "culd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQA9-1",
            "evidence": [
                {
                    "id": "0060741",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060741"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060741"
}