{
    "disease_id": "DOID:0050649",
    "recommended_name": {
        "id": "DOID:0050649",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050649",
        "name": "atransferrinemia",
        "description": "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "DOID:0050649",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050649",
            "name": "familial hypotransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "atransferrinemia",
            "description": "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated."
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "transferrin serum level quantitative trait locus 1",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "congenital atransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "congenital hypotransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "familial hypotransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "hereditary atransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "atransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "hypotransferrinemia, familial",
            "description": ""
        },
        {
            "id": "MIM:209300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/209300",
            "name": "Atransferrinemia",
            "description": "Atransferrinemia"
        }
    ]
}