{
    "disease_id": "DOID:0111678",
    "recommended_name": {
        "id": "DOID:0111678",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111678",
        "name": "hereditary folate malabsorption",
        "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 the SLC46A1 gene on chromosome 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111678",
            "name": "congenital defect of folate absorption",
            "description": ""
        },
        {
            "id": "DOID:0111678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111678",
            "name": "congenital folate malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "hereditary folate malabsorption",
            "description": "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders."
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "congenital folate malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "congenital defect of folate absorption",
            "description": ""
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "folic acid transport defect",
            "description": ""
        },
        {
            "id": "MIM:229050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229050",
            "name": "Hereditary folate malabsorption",
            "description": "Hereditary folate malabsorption"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111678"
    ],
    "unlinked_id_list": []
}