{
    "disease_id": "DOID:0111256",
    "recommended_name": {
        "id": "DOID:0111256",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111256",
        "name": "hyperferritinemia-cataract syndrome",
        "description": "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111256",
            "name": "Bonneau-Beaumont syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111256",
            "name": "HHCS",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111256",
            "name": "HRFTC",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111256",
            "name": "cataract-hyperferritinemia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111256",
            "name": "hereditary hyperferritinemia-cataract syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111256",
            "name": "hyperferritinemia with or without cataract",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111256",
            "name": "hereditary hyperferritinemia with congenital cataracts",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hereditary hyperferritinemia with congenital cataracts",
            "description": "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload."
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hereditary hyperferritinemia cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hyperferritinemia-cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "Bonneau-Beaumont syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "cataract-hyperferritinemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "HHCS",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hereditary hyperferritinemia-cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hyperferritinemia cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hyperferritinemia with or without cataract",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hyperferritinemia with or without cataract; HRFTC",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "HRFTC",
            "description": ""
        },
        {
            "id": "MONDO:0010952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "name": "hyperferritinemia, hereditary, with congenital cataracts",
            "description": ""
        },
        {
            "id": "MIM:600886",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600886",
            "name": "Hyperferritinemia with or without cataract",
            "description": "Hyperferritinemia with or without cataract"
        }
    ]
}