{
    "disease_id": "DOID:0050818",
    "recommended_name": {
        "id": "DOID:0050818",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050818",
        "name": "transcobalamin II deficiency",
        "description": "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII."
    },
    "synonyms": [
        {
            "id": "DOID:0050818",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050818",
            "name": "TCN2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010149",
            "name": "transcobalamin II deficiency",
            "description": "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia."
        },
        {
            "id": "MONDO:0010149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010149",
            "name": "TCN2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010149",
            "name": "inherited deficiency of transcobalamin",
            "description": ""
        },
        {
            "id": "MONDO:0010149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010149",
            "name": "transcobalamin II deficiency",
            "description": ""
        },
        {
            "id": "MIM:275350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275350",
            "name": "Transcobalamin II deficiency",
            "description": "Transcobalamin II deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050818"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050818",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050818",
            "categories": []
        },
        {
            "id": "MONDO:0010149",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010149",
            "categories": []
        },
        {
            "id": "MIM:275350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/275350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F2Z4S3-1",
            "uniprot_ac": "F2Z4S3",
            "uniprot_id": "F2Z4S3_DANRE",
            "refseq_ac": "NP_001116703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcobalamin-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Transcobalamin-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin II, like",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tcn2",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-102c2.6",
                    "type": "synonym"
                },
                {
                    "name": "tcn2l",
                    "type": "synonym"
                },
                {
                    "name": "tcn2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd46e10",
                    "type": "synonym"
                }
            ],
            "record_id": "F2Z4S3-1",
            "evidence": [
                {
                    "id": "0050818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88968-1",
            "uniprot_ac": "O88968",
            "uniprot_id": "TCO2_MOUSE",
            "refseq_ac": "NP_001123930",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcobalamin-2",
                    "type": "recommended"
                },
                {
                    "name": "TC II",
                    "type": "synonym"
                },
                {
                    "name": "TC-2",
                    "type": "synonym"
                },
                {
                    "name": "TCII",
                    "type": "synonym"
                },
                {
                    "name": "Transcobalamin II",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin II",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcn2",
                    "type": "recommended"
                },
                {
                    "name": "Tcn-2",
                    "type": "synonym"
                },
                {
                    "name": "Tcn2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88968-1",
            "evidence": [
                {
                    "id": "0050818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20062-1",
            "uniprot_ac": "P20062",
            "uniprot_id": "TCO2_HUMAN",
            "refseq_ac": "NP_000346",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcobalamin-2",
                    "type": "recommended"
                },
                {
                    "name": "TC II",
                    "type": "synonym"
                },
                {
                    "name": "TC-2",
                    "type": "synonym"
                },
                {
                    "name": "TCII",
                    "type": "synonym"
                },
                {
                    "name": "Transcobalamin II",
                    "type": "synonym"
                },
                {
                    "name": "macrocytic anemia",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin II",
                    "type": "synonym"
                },
                {
                    "name": "transcobalamin-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin B12-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCN2",
                    "type": "recommended"
                },
                {
                    "name": "D22S676",
                    "type": "synonym"
                },
                {
                    "name": "D22S750",
                    "type": "synonym"
                },
                {
                    "name": "II",
                    "type": "synonym"
                },
                {
                    "name": "TC II",
                    "type": "synonym"
                },
                {
                    "name": "TC-2",
                    "type": "synonym"
                },
                {
                    "name": "TC2",
                    "type": "synonym"
                },
                {
                    "name": "TCII",
                    "type": "synonym"
                },
                {
                    "name": "TCN2",
                    "type": "synonym"
                },
                {
                    "name": "TC",
                    "type": "synonym"
                }
            ],
            "record_id": "P20062-1",
            "evidence": [
                {
                    "id": "275350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/275350"
                },
                {
                    "id": "0050818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0D6-1",
            "uniprot_ac": "Q9R0D6",
            "uniprot_id": "TCO2_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": "Transcobalamin-2",
                    "type": "recommended"
                },
                {
                    "name": "TC II",
                    "type": "synonym"
                },
                {
                    "name": "TC-2",
                    "type": "synonym"
                },
                {
                    "name": "TCII",
                    "type": "synonym"
                },
                {
                    "name": "Transcobalamin II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcn2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9R0D6-1",
            "evidence": [
                {
                    "id": "0050818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4K2-1",
            "uniprot_ac": "Q9W4K2",
            "uniprot_id": "Y3556_DROME",
            "refseq_ac": "NP_001245529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein CG3556",
                    "type": "recommended"
                },
                {
                    "name": "CG3556-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3556",
                    "type": "recommended"
                },
                {
                    "name": "CG3556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3556",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4K2-1",
            "evidence": [
                {
                    "id": "0050818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050818"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050818"
}