{
    "disease_id": "DOID:0111256",
    "recommended_name": {
        "id": "DOID:0111256",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0111256",
            "name": "Bonneau-Beaumont syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111256",
            "name": "HHCS",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111256",
            "name": "HRFTC",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111256",
            "name": "cataract-hyperferritinemia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111256",
            "name": "hereditary hyperferritinemia-cataract syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111256",
            "name": "hyperferritinemia with or without cataract",
            "description": ""
        },
        {
            "id": "DOID:0111256",
            "resource": "Disease Ontology",
            "url": "https://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": "HHCS",
            "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": "hereditary hyperferritinemia-cataract syndrome",
            "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": "cataract-hyperferritinemia syndrome",
            "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": "MIM:600886",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600886",
            "name": "Hyperferritinemia with or without cataract",
            "description": "Hyperferritinemia with or without cataract"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111256"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111256",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111256",
            "categories": []
        },
        {
            "id": "MONDO:0010952",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010952",
            "categories": []
        },
        {
            "id": "MIM:600886",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600886",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P29391-1",
            "uniprot_ac": "P29391",
            "uniprot_id": "FRIL1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferritin light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Ferritin L subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ftl1-ps1",
                    "type": "recommended"
                },
                {
                    "name": "Ftl1",
                    "type": "recommended"
                },
                {
                    "name": "Ftl-1",
                    "type": "synonym"
                },
                {
                    "name": "Ftl",
                    "type": "synonym"
                }
            ],
            "record_id": "P29391-1",
            "evidence": [
                {
                    "id": "0111256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02792-1",
            "uniprot_ac": "P02792",
            "uniprot_id": "FRIL_HUMAN",
            "refseq_ac": "NP_000137",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferritin light chain",
                    "type": "recommended"
                },
                {
                    "name": "Ferritin L subunit",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ferritin L subunit",
                    "type": "synonym"
                },
                {
                    "name": "ferritin L-chain",
                    "type": "synonym"
                },
                {
                    "name": "ferritin light chain",
                    "type": "synonym"
                },
                {
                    "name": "ferritin light polypeptide-like 3",
                    "type": "synonym"
                },
                {
                    "name": "ferritin, light polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FTL",
                    "type": "recommended"
                },
                {
                    "name": "FTL1",
                    "type": "synonym"
                },
                {
                    "name": "FTL",
                    "type": "synonym"
                },
                {
                    "name": "LFTD",
                    "type": "synonym"
                },
                {
                    "name": "NBIA3",
                    "type": "synonym"
                }
            ],
            "record_id": "P02792-1",
            "evidence": [
                {
                    "id": "600886",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600886"
                },
                {
                    "id": "0111256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02793-1",
            "uniprot_ac": "P02793",
            "uniprot_id": "FRIL1_RAT",
            "refseq_ac": "NP_071945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferritin light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Ferritin L subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ferritin L subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ferritin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "ferritin, light polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ftl1l1",
                    "type": "recommended"
                },
                {
                    "name": "Ftl1l2",
                    "type": "recommended"
                },
                {
                    "name": "Ftl1l5",
                    "type": "recommended"
                },
                {
                    "name": "Ftl1l7",
                    "type": "recommended"
                },
                {
                    "name": "Ftl1",
                    "type": "recommended"
                },
                {
                    "name": "LOC100360087",
                    "type": "recommended"
                },
                {
                    "name": "LOC100362384",
                    "type": "recommended"
                },
                {
                    "name": "LOC120102993",
                    "type": "recommended"
                },
                {
                    "name": "AABR07005031.1",
                    "type": "synonym"
                },
                {
                    "name": "AABR07041778.1",
                    "type": "synonym"
                },
                {
                    "name": "AC115277.1",
                    "type": "synonym"
                },
                {
                    "name": "Ftl1-ps14",
                    "type": "synonym"
                },
                {
                    "name": "Ftl1l1",
                    "type": "synonym"
                },
                {
                    "name": "Ftl1l2",
                    "type": "synonym"
                },
                {
                    "name": "Ftl1l5",
                    "type": "synonym"
                },
                {
                    "name": "Ftl1l7",
                    "type": "synonym"
                },
                {
                    "name": "Ftl1",
                    "type": "synonym"
                },
                {
                    "name": "Ftl",
                    "type": "synonym"
                },
                {
                    "name": "LOC100359668",
                    "type": "synonym"
                },
                {
                    "name": "LOC100360087",
                    "type": "synonym"
                },
                {
                    "name": "LOC100362384",
                    "type": "synonym"
                },
                {
                    "name": "LOC120102993",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560687",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566189",
                    "type": "synonym"
                }
            ],
            "record_id": "P02793-1",
            "evidence": [
                {
                    "id": "0111256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYH1-1",
            "uniprot_ac": "Q9VYH1",
            "uniprot_id": "Q9VYH1_DROME",
            "refseq_ac": "NP_572854",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferritin",
                    "type": "recommended"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4349-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fer3HCH-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ferritin3",
                    "type": "synonym"
                },
                {
                    "name": "ferritin 3 heavy chain homologue",
                    "type": "synonym"
                },
                {
                    "name": "mitoch. ferritin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fer3HCH",
                    "type": "recommended"
                },
                {
                    "name": "CG4349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4349",
                    "type": "synonym"
                },
                {
                    "name": "Fer3 HCH",
                    "type": "synonym"
                },
                {
                    "name": "Fer3HCH",
                    "type": "synonym"
                },
                {
                    "name": "Fer3",
                    "type": "synonym"
                },
                {
                    "name": "FtMt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYH1-1",
            "evidence": [
                {
                    "id": "0111256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111256"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111256"
}