{
    "disease_id": "DOID:0050733",
    "recommended_name": {
        "id": "DOID:0050733",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050733",
        "name": "methylmalonic aciduria and homocystinuria type cblG",
        "description": "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism."
    },
    "synonyms": [
        {
            "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": "homocystinuria-megaloblastic anemia, 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": "functional methionine synthase deficiency type cblG",
            "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": "methylmalonic aciduria and homocystinuria type cblG",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "homocystinuria-megaloblastic anemia, cblG complementation type; HMAG",
            "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, cblG type",
            "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": "HMAG",
            "description": ""
        },
        {
            "id": "MONDO:0009609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009609",
            "name": "homocystinuria due to defect in methylation Cbl g",
            "description": ""
        },
        {
            "id": "MIM:250940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/250940",
            "name": "Homocystinuria-megaloblastic anemia, cblG complementation type",
            "description": "Homocystinuria-megaloblastic anemia, cblG complementation type"
        }
    ]
}