{
    "disease_id": "DOID:0111029",
    "recommended_name": {
        "id": "DOID:0111029",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111029",
        "name": "hemochromatosis type 1",
        "description": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22."
    },
    "synonyms": [
        {
            "id": "DOID:0111029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111029",
            "name": "HFE1",
            "description": ""
        },
        {
            "id": "DOID:0111029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111029",
            "name": "symptomatic form of classic hemochromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111029",
            "name": "symptomatic form of hemochromatosis type 1",
            "description": ""
        },
        {
            "id": "DOID:0111029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111029",
            "name": "symptomatic form of HFE-related hereditary hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "hemochromatosis type 1",
            "description": "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease"
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "C282Y/C282Y hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "HFE-associated hereditary hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "HFE-related hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "HFE1",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "classic hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "hemochromatosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "hemochromatosis, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0021001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "name": "symptomatic form of hemochromatosis type 1",
            "description": ""
        },
        {
            "id": "MIM:235200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/235200",
            "name": "Hemochromatosis 1",
            "description": "Hemochromatosis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111029"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111029",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111029",
            "categories": []
        },
        {
            "id": "MONDO:0021001",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021001",
            "categories": []
        },
        {
            "id": "MIM:235200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/235200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BI98-1",
            "uniprot_ac": "A0A8M2BI98",
            "uniprot_id": "A0A8M2BI98_DANRE",
            "refseq_ac": "XP_005171048",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Major histocompatibility complex class I ZDA isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex class I ZDA isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mhc1zda",
                    "type": "recommended"
                },
                {
                    "name": "mhc1zda",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BI98-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70387-1",
            "uniprot_ac": "P70387",
            "uniprot_id": "HFE_MOUSE",
            "refseq_ac": "NP_001334422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hereditary hemochromatosis protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "hereditary hemochromatosis protein homolog isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "hereditary hemochromatosis protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hfe",
                    "type": "recommended"
                },
                {
                    "name": "Hfe",
                    "type": "synonym"
                },
                {
                    "name": "MR2",
                    "type": "synonym"
                },
                {
                    "name": "Mr2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70387-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21274-1",
            "uniprot_ac": "P21274",
            "uniprot_id": "BMP2_MOUSE",
            "refseq_ac": "NP_031579",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp2",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-2",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2a",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21274-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q30201-1",
            "uniprot_ac": "Q30201",
            "uniprot_id": "HFE_HUMAN",
            "refseq_ac": "NP_001287678",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hereditary hemochromatosis protein",
                    "type": "recommended"
                },
                {
                    "name": "HLA-H",
                    "type": "synonym"
                },
                {
                    "name": "MHC class I-like protein HFE",
                    "type": "synonym"
                },
                {
                    "name": "hereditary hemochromatosis protein HLA-H",
                    "type": "synonym"
                },
                {
                    "name": "hereditary hemochromatosis protein isoform 12 precursor",
                    "type": "synonym"
                },
                {
                    "name": "high Fe",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HFE",
                    "type": "recommended"
                },
                {
                    "name": "HFE1",
                    "type": "synonym"
                },
                {
                    "name": "HFE",
                    "type": "synonym"
                },
                {
                    "name": "HH",
                    "type": "synonym"
                },
                {
                    "name": "HLA-H",
                    "type": "synonym"
                },
                {
                    "name": "HLAH",
                    "type": "synonym"
                },
                {
                    "name": "MVCD7",
                    "type": "synonym"
                },
                {
                    "name": "TFQTL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q30201-1",
            "evidence": [
                {
                    "id": "235200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/235200"
                },
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49001-1",
            "uniprot_ac": "P49001",
            "uniprot_id": "BMP2_RAT",
            "refseq_ac": "NP_058874",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp2",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-2",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49001-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35799-1",
            "uniprot_ac": "O35799",
            "uniprot_id": "HFE_RAT",
            "refseq_ac": "NP_445753",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hereditary hemochromatosis protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "RT1-CAFE",
                    "type": "synonym"
                },
                {
                    "name": "hereditary hemochromatosis protein homolog isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hereditary hemochromatosis protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hfe",
                    "type": "recommended"
                },
                {
                    "name": "Hfe",
                    "type": "synonym"
                }
            ],
            "record_id": "O35799-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07713-1",
            "uniprot_ac": "P07713",
            "uniprot_id": "DECA_DROME",
            "refseq_ac": "NP_477311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein decapentaplegic",
                    "type": "recommended"
                },
                {
                    "name": "CG9885-PA",
                    "type": "synonym"
                },
                {
                    "name": "Decapentaplegic/Bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "Haplo-insufficient",
                    "type": "synonym"
                },
                {
                    "name": "Protein DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "blink",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic",
                    "type": "synonym"
                },
                {
                    "name": "dpp-PA",
                    "type": "synonym"
                },
                {
                    "name": "heldout",
                    "type": "synonym"
                },
                {
                    "name": "shortvein",
                    "type": "synonym"
                },
                {
                    "name": "tegula",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dpp",
                    "type": "recommended"
                },
                {
                    "name": "BMP",
                    "type": "synonym"
                },
                {
                    "name": "Bmp",
                    "type": "synonym"
                },
                {
                    "name": "CG9885",
                    "type": "synonym"
                },
                {
                    "name": "DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "DPP",
                    "type": "synonym"
                },
                {
                    "name": "Dm-DPP",
                    "type": "synonym"
                },
                {
                    "name": "DmDPP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9885",
                    "type": "synonym"
                },
                {
                    "name": "Dpp/TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dpp",
                    "type": "synonym"
                },
                {
                    "name": "Hin-d",
                    "type": "synonym"
                },
                {
                    "name": "M(2)23AB",
                    "type": "synonym"
                },
                {
                    "name": "M(2)LS1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta",
                    "type": "synonym"
                },
                {
                    "name": "TGF-b",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "blk",
                    "type": "synonym"
                },
                {
                    "name": "dpp",
                    "type": "synonym"
                },
                {
                    "name": "ho",
                    "type": "synonym"
                },
                {
                    "name": "l(2)10638",
                    "type": "synonym"
                },
                {
                    "name": "l(2)22Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k17036",
                    "type": "synonym"
                },
                {
                    "name": "shv",
                    "type": "synonym"
                }
            ],
            "record_id": "P07713-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12109-1",
            "uniprot_ac": "P12109",
            "uniprot_id": "CO6A1_HUMAN",
            "refseq_ac": "NP_001839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha 1 (VI) chain (61 AA)",
                    "type": "synonym"
                },
                {
                    "name": "collagen VI, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL6A1",
                    "type": "recommended"
                },
                {
                    "name": "BTHLM1A",
                    "type": "synonym"
                },
                {
                    "name": "BTHLM1",
                    "type": "synonym"
                },
                {
                    "name": "COL6A1",
                    "type": "synonym"
                },
                {
                    "name": "OPLL",
                    "type": "synonym"
                },
                {
                    "name": "UCHMD1A",
                    "type": "synonym"
                },
                {
                    "name": "UCHMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12109-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12643-1",
            "uniprot_ac": "P12643",
            "uniprot_id": "BMP2_HUMAN",
            "refseq_ac": "NP_001191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMP2",
                    "type": "recommended"
                },
                {
                    "name": "BDA2",
                    "type": "synonym"
                },
                {
                    "name": "BMP2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP2",
                    "type": "synonym"
                },
                {
                    "name": "SSFSC1",
                    "type": "synonym"
                },
                {
                    "name": "SSFSC",
                    "type": "synonym"
                }
            ],
            "record_id": "P12643-1",
            "evidence": [
                {
                    "id": "0111029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111029"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111029"
}