{
    "disease_id": "DOID:0112255",
    "recommended_name": {
        "id": "DOID:0112255",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112255",
        "name": "homocystinuria-megaloblastic anemia cblE type",
        "description": "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112255",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112255",
            "name": "functional methionine synthase deficiency type cblE",
            "description": ""
        },
        {
            "id": "DOID:0112255",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112255",
            "name": "HMAE",
            "description": ""
        },
        {
            "id": "DOID:0112255",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112255",
            "name": "methylcobalamin deficiency, cblE type",
            "description": ""
        },
        {
            "id": "DOID:0112255",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112255",
            "name": "vitamin B12-responsive homocystinuria, cblE type",
            "description": ""
        },
        {
            "id": "DOID:0112255",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112255",
            "name": "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "methylcobalamin deficiency type cblE",
            "description": "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia."
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "functional methionine synthase deficiency type cblE",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "homocystinuria-megaloblastic anemia, cbl e type",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "methylcobalamin deficiency type cblE",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "HMAE",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "homocystinuria due to defect in methylation Cbl e",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "homocystinuria-megaloblastic anemia, cblE complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "methylcobalamin deficiency, cblE type",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "methylmalonic aciduria and homocystinuria type cblE",
            "description": ""
        },
        {
            "id": "MONDO:0009354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009354",
            "name": "vitamin B12-responsive homocystinuria, cblE type",
            "description": ""
        },
        {
            "id": "MIM:236270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236270",
            "name": "Homocystinuria-megaloblastic anemia, cblE type",
            "description": "Homocystinuria-megaloblastic anemia, cblE type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112255"
    ],
    "unlinked_id_list": []
}