{
    "disease_id": "DOID:0111032",
    "recommended_name": {
        "id": "DOID:0111032",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111032",
        "name": "hemochromatosis type 2B",
        "description": "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111032",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111032",
            "name": "HFE2B",
            "description": ""
        },
        {
            "id": "MONDO:0013220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013220",
            "name": "hemochromatosis type 2B",
            "description": "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene."
        },
        {
            "id": "MONDO:0013220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013220",
            "name": "HAMP hemochromatosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013220",
            "name": "HFE2B",
            "description": ""
        },
        {
            "id": "MONDO:0013220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013220",
            "name": "hemochromatosis type 2 caused by mutation in HAMP",
            "description": ""
        },
        {
            "id": "MONDO:0013220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013220",
            "name": "hemochromatosis, type 2B",
            "description": ""
        },
        {
            "id": "MIM:613313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613313",
            "name": "Hemochromatosis 2B",
            "description": "Hemochromatosis 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111032"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111032",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111032",
            "categories": []
        },
        {
            "id": "MONDO:0013220",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013220",
            "categories": []
        },
        {
            "id": "MIM:613313",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613313",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P61516-1",
            "uniprot_ac": "P61516",
            "uniprot_id": "HEPC1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepcidin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "hamp1",
                    "type": "recommended"
                },
                {
                    "name": "hamp2",
                    "type": "recommended"
                },
                {
                    "name": "hamp",
                    "type": "recommended"
                },
                {
                    "name": "hamp1",
                    "type": "synonym"
                },
                {
                    "name": "hamp2",
                    "type": "synonym"
                },
                {
                    "name": "hamp",
                    "type": "synonym"
                },
                {
                    "name": "hep",
                    "type": "synonym"
                }
            ],
            "record_id": "P61516-1",
            "evidence": [
                {
                    "id": "0111032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQ21-1",
            "uniprot_ac": "Q9EQ21",
            "uniprot_id": "HEPC_MOUSE",
            "refseq_ac": "NP_115930",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepcidin",
                    "type": "recommended"
                },
                {
                    "name": "hepcidin antimicrobial peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "hepcidin preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hamp",
                    "type": "recommended"
                },
                {
                    "name": "Hamp1",
                    "type": "synonym"
                },
                {
                    "name": "Hamp",
                    "type": "synonym"
                },
                {
                    "name": "Hepc1",
                    "type": "synonym"
                },
                {
                    "name": "Hepc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQ21-1",
            "evidence": [
                {
                    "id": "0111032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80T19-1",
            "uniprot_ac": "Q80T19",
            "uniprot_id": "HEPC2_MOUSE",
            "refseq_ac": "NP_899080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepcidin-2",
                    "type": "recommended"
                },
                {
                    "name": "hepcidin-2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "hepcidin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hamp2",
                    "type": "recommended"
                },
                {
                    "name": "1810073K19Rik",
                    "type": "synonym"
                },
                {
                    "name": "HEPC2",
                    "type": "synonym"
                },
                {
                    "name": "Hamp2",
                    "type": "synonym"
                },
                {
                    "name": "Hepc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80T19-1",
            "evidence": [
                {
                    "id": "0111032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P81172-1",
            "uniprot_ac": "P81172",
            "uniprot_id": "HEPC_HUMAN",
            "refseq_ac": "NP_066998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepcidin",
                    "type": "recommended"
                },
                {
                    "name": "LEAP-1",
                    "type": "synonym"
                },
                {
                    "name": "Liver-expressed antimicrobial peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "PLTR",
                    "type": "synonym"
                },
                {
                    "name": "Putative liver tumor regressor",
                    "type": "synonym"
                },
                {
                    "name": "hepcidin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "liver-expressed antimicrobial peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "putative liver tumor regressor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HAMP",
                    "type": "recommended"
                },
                {
                    "name": "HAMP",
                    "type": "synonym"
                },
                {
                    "name": "HEPC",
                    "type": "synonym"
                },
                {
                    "name": "HFE2B",
                    "type": "synonym"
                },
                {
                    "name": "LEAP1",
                    "type": "synonym"
                },
                {
                    "name": "PLTR",
                    "type": "synonym"
                },
                {
                    "name": "PRO1003",
                    "type": "synonym"
                }
            ],
            "record_id": "P81172-1",
            "evidence": [
                {
                    "id": "613313",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613313"
                },
                {
                    "id": "0111032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MH3-1",
            "uniprot_ac": "Q99MH3",
            "uniprot_id": "HEPC_RAT",
            "refseq_ac": "NP_445921",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepcidin",
                    "type": "recommended"
                },
                {
                    "name": "hepcidin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hamp",
                    "type": "recommended"
                },
                {
                    "name": "Hamp",
                    "type": "synonym"
                },
                {
                    "name": "Hepc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MH3-1",
            "evidence": [
                {
                    "id": "0111032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111032"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111032"
}