{
    "disease_id": "DOID:0111030",
    "recommended_name": {
        "id": "DOID:0111030",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111030",
        "name": "hemochromatosis type 3",
        "description": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111030",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111030",
            "name": "HFE3",
            "description": ""
        },
        {
            "id": "DOID:0111030",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111030",
            "name": "TFR2-related hemochromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111030",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111030",
            "name": "hemochromatosis due to defect in transferrin receptor 2",
            "description": ""
        },
        {
            "id": "MONDO:0011417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "name": "hemochromatosis type 3",
            "description": "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin."
        },
        {
            "id": "MONDO:0011417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "name": "HFE3",
            "description": ""
        },
        {
            "id": "MONDO:0011417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "name": "TFR2 hereditary hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0011417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "name": "TFR2-related hemochromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0011417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "name": "hemochromatosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "name": "hereditary hemochromatosis caused by mutation in TFR2",
            "description": ""
        },
        {
            "id": "MONDO:0011417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "name": "hemochromatosis, type 3",
            "description": ""
        },
        {
            "id": "MIM:604250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604250",
            "name": "Hemochromatosis 3",
            "description": "Hemochromatosis 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111030"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111030",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111030",
            "categories": []
        },
        {
            "id": "MONDO:0011417",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011417",
            "categories": []
        },
        {
            "id": "MIM:604250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JKX3-1",
            "uniprot_ac": "Q9JKX3",
            "uniprot_id": "TFR2_MOUSE",
            "refseq_ac": "NP_001276438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin receptor protein 2",
                    "type": "recommended"
                },
                {
                    "name": "TfR2",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfr2",
                    "type": "recommended"
                },
                {
                    "name": "Tfr2",
                    "type": "synonym"
                },
                {
                    "name": "Trfr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKX3-1",
            "evidence": [
                {
                    "id": "0111030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UP52-1",
            "uniprot_ac": "Q9UP52",
            "uniprot_id": "TFR2_HUMAN",
            "refseq_ac": "NP_001193784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin receptor protein 2",
                    "type": "recommended"
                },
                {
                    "name": "TfR2",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TFR2",
                    "type": "recommended"
                },
                {
                    "name": "HFE3",
                    "type": "synonym"
                },
                {
                    "name": "TFR2",
                    "type": "synonym"
                },
                {
                    "name": "TFRC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UP52-1",
            "evidence": [
                {
                    "id": "604250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604250"
                },
                {
                    "id": "0111030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47161-1",
            "uniprot_ac": "P47161",
            "uniprot_id": "VPS70_YEAST",
            "refseq_ac": "NP_012660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 70",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "putative zinc metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS70",
                    "type": "recommended"
                },
                {
                    "name": "J2050",
                    "type": "synonym"
                },
                {
                    "name": "VPS70",
                    "type": "synonym"
                }
            ],
            "record_id": "P47161-1",
            "evidence": [
                {
                    "id": "0111030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08919-1",
            "uniprot_ac": "Q08919",
            "uniprot_id": "TRE1_YEAST",
            "refseq_ac": "NP_015149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein TRE1",
                    "type": "recommended"
                },
                {
                    "name": "Transferrin receptor-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Tre1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRE1",
                    "type": "recommended"
                },
                {
                    "name": "TRE1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08919-1",
            "evidence": [
                {
                    "id": "0111030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08693-1",
            "uniprot_ac": "Q08693",
            "uniprot_id": "TRE2_YEAST",
            "refseq_ac": "NP_014899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative zinc metalloprotease TRE2",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Transferrin receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "putative zinc metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRE2",
                    "type": "recommended"
                },
                {
                    "name": "TRE2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08693-1",
            "evidence": [
                {
                    "id": "0111030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GUY2-1",
            "uniprot_ac": "B2GUY2",
            "uniprot_id": "TFR2_RAT",
            "refseq_ac": "NP_001099386",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin receptor protein 2",
                    "type": "recommended"
                },
                {
                    "name": "TfR2",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfr2",
                    "type": "recommended"
                },
                {
                    "name": "Tfr2",
                    "type": "synonym"
                },
                {
                    "name": "Trfr2",
                    "type": "synonym"
                }
            ],
            "record_id": "B2GUY2-1",
            "evidence": [
                {
                    "id": "0111030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111030"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111030"
}