{
    "disease_id": "DOID:9263", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "homocystinuria due to methylene tetrahydrofolate reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "homocystinuria due to MTHFR deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "5,10 alpha methylenetetrahydro-folate reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "methylene tetrahydrofolate reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "MTHFR deficiency, thermolabile type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "Methylenetetrahydro-folate reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "methylenetetrahydrofolate reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "MTHFR deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "5,10-alpha-methylenetetrahydro-folate reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009353", 
            "name": "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:9263", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:9263", 
            "name": "CBS deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:9263", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:9263", 
            "name": "cystathionine beta synthase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:9263", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:9263", 
            "name": "cystathionine synthase deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/236250", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:236250", 
            "name": "Methylenetetrahydrofolate reductase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:9263", 
        "description": "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.", 
        "resource": "Disease Ontology", 
        "id": "DOID:9263", 
        "name": "homocystinuria"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/236250", 
            "id": "236250", 
            "database": "MIM"
        }
    ]
}