{
    "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": []
}