{
    "disease_id": "DOID:0112256",
    "recommended_name": {
        "id": "DOID:0112256",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112256",
        "name": "homocystinuria-megaloblastic anemia cblG type",
        "description": "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, 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 MTR on chromosome 1q43."
    },
    "synonyms": [
        {
            "id": "DOID:0112256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112256",
            "name": "HMAG",
            "description": ""
        },
        {
            "id": "DOID:0112256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112256",
            "name": "methylcobalamin deficiency, cblG type",
            "description": ""
        },
        {
            "id": "DOID:0112256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112256",
            "name": "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type",
            "description": ""
        },
        {
            "id": "DOID:0112256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112256",
            "name": "homocystinuria-megaloblastic anemia, cblG complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "methylcobalamin deficiency type cblG",
            "description": "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine."
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "functional methionine synthase deficiency type cblG",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "methylcobalamin deficiency type cblG",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "HMAG",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "cblG",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "homocystinuria due to defect in methylation Cbl g",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "homocystinuria-megaloblastic anemia, cblG complementation type",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "methionine synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "methylcobalamin deficiency Cbl G type",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "methylcobalamin deficiency, cblG type",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "methylmalonic aciduria and homocystinuria type cblG",
            "description": ""
        },
        {
            "id": "MIM:250940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/250940",
            "name": "Homocystinuria-megaloblastic anemia, cblG type",
            "description": "Homocystinuria-megaloblastic anemia, cblG type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112256"
    ],
    "unlinked_id_list": []
}