{
    "disease_id": "DOID:0111028",
    "recommended_name": {
        "id": "DOID:0111028",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111028",
        "name": "hemochromatosis type 4",
        "description": "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32."
    },
    "synonyms": [
        {
            "id": "DOID:0111028",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111028",
            "name": "HFE4",
            "description": ""
        },
        {
            "id": "DOID:0111028",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111028",
            "name": "autosomal dominant hereditary hemochromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111028",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111028",
            "name": "ferroportin disease",
            "description": ""
        },
        {
            "id": "DOID:0111028",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111028",
            "name": "hemochromatosis due to defect in ferroportin",
            "description": ""
        },
        {
            "id": "MONDO:0011631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "name": "hemochromatosis type 4",
            "description": "A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC."
        },
        {
            "id": "MONDO:0011631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "name": "Ferroportin Disease",
            "description": ""
        },
        {
            "id": "MONDO:0011631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "name": "HFE4",
            "description": ""
        },
        {
            "id": "MONDO:0011631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "name": "SLC40A1 hereditary hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0011631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "name": "ferroportin disease",
            "description": ""
        },
        {
            "id": "MONDO:0011631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "name": "hereditary hemochromatosis caused by mutation in SLC40A1",
            "description": ""
        },
        {
            "id": "MONDO:0011631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "name": "hemochromatosis, type 4",
            "description": ""
        },
        {
            "id": "MIM:606069",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606069",
            "name": "Hemochromatosis 4",
            "description": "Hemochromatosis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111028"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111028",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111028",
            "categories": []
        },
        {
            "id": "MONDO:0011631",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011631",
            "categories": []
        },
        {
            "id": "MIM:606069",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606069",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9I9R3-1",
            "uniprot_ac": "Q9I9R3",
            "uniprot_id": "S40A1_DANRE",
            "refseq_ac": "NP_571704",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 40 member 1",
                    "type": "recommended"
                },
                {
                    "name": "Ferroportin-1",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin-1",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin1",
                    "type": "synonym"
                },
                {
                    "name": "iron-regulated transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (iron-regulated transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 40 (iron-regulated transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 40 member 1",
                    "type": "synonym"
                },
                {
                    "name": "weissherbst",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc40a1",
                    "type": "recommended"
                },
                {
                    "name": "FPN1",
                    "type": "synonym"
                },
                {
                    "name": "fpn1",
                    "type": "synonym"
                },
                {
                    "name": "slc39a1",
                    "type": "synonym"
                },
                {
                    "name": "slc40a1",
                    "type": "synonym"
                },
                {
                    "name": "weh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I9R3-1",
            "evidence": [
                {
                    "id": "0111028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHI9-1",
            "uniprot_ac": "Q9JHI9",
            "uniprot_id": "S40A1_MOUSE",
            "refseq_ac": "NP_058613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferroportin",
                    "type": "recommended"
                },
                {
                    "name": "Ferroportin-1",
                    "type": "synonym"
                },
                {
                    "name": "Iron-regulated transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "MTP1",
                    "type": "synonym"
                },
                {
                    "name": "Metal transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SLC11A3 iron transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 40 member 1",
                    "type": "synonym"
                },
                {
                    "name": "duodenal-specific",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin 1",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin1",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin",
                    "type": "synonym"
                },
                {
                    "name": "iron-regulated transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "metal transporting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polycythaemia",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (iron-regulated transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 40 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc40a1",
                    "type": "recommended"
                },
                {
                    "name": "Dusg",
                    "type": "synonym"
                },
                {
                    "name": "Fpn1",
                    "type": "synonym"
                },
                {
                    "name": "IREG1",
                    "type": "synonym"
                },
                {
                    "name": "Ireg1",
                    "type": "synonym"
                },
                {
                    "name": "MTP1",
                    "type": "synonym"
                },
                {
                    "name": "MTP",
                    "type": "synonym"
                },
                {
                    "name": "Ol5",
                    "type": "synonym"
                },
                {
                    "name": "Pcm",
                    "type": "synonym"
                },
                {
                    "name": "Slc11a3",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a1",
                    "type": "synonym"
                },
                {
                    "name": "Slc40a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHI9-1",
            "evidence": [
                {
                    "id": "0111028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NP59-1",
            "uniprot_ac": "Q9NP59",
            "uniprot_id": "S40A1_HUMAN",
            "refseq_ac": "NP_055400",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferroportin",
                    "type": "recommended"
                },
                {
                    "name": "Ferroportin-1",
                    "type": "synonym"
                },
                {
                    "name": "Iron-regulated transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "SLC40 iron transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 40 member 1",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin",
                    "type": "synonym"
                },
                {
                    "name": "iron regulated gene 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 40 (iron-regulated transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC40A1",
                    "type": "recommended"
                },
                {
                    "name": "FPN1",
                    "type": "synonym"
                },
                {
                    "name": "FPN",
                    "type": "synonym"
                },
                {
                    "name": "HFE4",
                    "type": "synonym"
                },
                {
                    "name": "IREG1",
                    "type": "synonym"
                },
                {
                    "name": "MST079",
                    "type": "synonym"
                },
                {
                    "name": "MSTP079",
                    "type": "synonym"
                },
                {
                    "name": "MTP1",
                    "type": "synonym"
                },
                {
                    "name": "SLC11A3",
                    "type": "synonym"
                },
                {
                    "name": "SLC40A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NP59-1",
            "evidence": [
                {
                    "id": "606069",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606069"
                },
                {
                    "id": "0111028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q923U9-1",
            "uniprot_ac": "Q923U9",
            "uniprot_id": "S40A1_RAT",
            "refseq_ac": "NP_579849",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferroportin",
                    "type": "recommended"
                },
                {
                    "name": "CAR1",
                    "type": "synonym"
                },
                {
                    "name": "Cell adhesion regulator",
                    "type": "synonym"
                },
                {
                    "name": "Ferroportin-1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 40 member 1",
                    "type": "synonym"
                },
                {
                    "name": "cell adhesion regulator",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin-1",
                    "type": "synonym"
                },
                {
                    "name": "ferroportin",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (iron-regulated transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 40 (iron-regulated transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc40a1",
                    "type": "recommended"
                },
                {
                    "name": "Fpn1",
                    "type": "synonym"
                },
                {
                    "name": "Fpt1",
                    "type": "synonym"
                },
                {
                    "name": "Slc11a3",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a1",
                    "type": "synonym"
                },
                {
                    "name": "Slc40a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q923U9-1",
            "evidence": [
                {
                    "id": "0111028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111028"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111028"
}