{
    "disease_id": "DOID:0111678", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009238", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009238", 
            "name": "congenital defect of folate absorption"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009238", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009238", 
            "name": "folic acid transport defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009238", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009238", 
            "name": "congenital folate malabsorption"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009238", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009238", 
            "name": "folate malabsorption, hereditary"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111678", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111678", 
            "name": "congenital defect of folate absorption"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111678", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111678", 
            "name": "congenital folate malabsorption"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111678", 
        "description": "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111678", 
        "name": "hereditary folate malabsorption"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/229050", 
            "id": "229050", 
            "database": "MIM"
        }
    ]
}