{
    "disease_id": "DOID:0081450",
    "recommended_name": {
        "id": "DOID:0081450",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081450",
        "name": "hyperimmunoglobulinemia D periodic fever syndrome",
        "description": "A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0081450",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081450",
            "name": "HYPER-IgD SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyperimmunoglobulinemia D with periodic fever",
            "description": "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)."
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "HIDS",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyper-IgD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyperimmunoglobinemia D with recurrent fever",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyperimmunoglobulinemia D syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "partial mevalonate kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyper IgD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "periodic fever Dutch type",
            "description": ""
        },
        {
            "id": "MIM:260920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260920",
            "name": "Hyperimmunoglobulinemia D and periodic fever syndrome",
            "description": "Hyperimmunoglobulinemia D and periodic fever syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081450"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081450",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081450",
            "categories": []
        },
        {
            "id": "MONDO:0009849",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "categories": []
        },
        {
            "id": "MIM:260920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/260920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R008-1",
            "uniprot_ac": "Q9R008",
            "uniprot_id": "KIME_MOUSE",
            "refseq_ac": "NP_076045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mevalonate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.36",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "mevalonate kinase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mvk",
                    "type": "recommended"
                },
                {
                    "name": "2310010A05Rik",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "Mvk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R008-1",
            "evidence": [
                {
                    "id": "0081450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03426-1",
            "uniprot_ac": "Q03426",
            "uniprot_id": "KIME_HUMAN",
            "refseq_ac": "NP_000422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mevalonate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.36",
                    "type": "synonym"
                },
                {
                    "name": "LH receptor mRNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "mevalonate kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "mevalonate kinase isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MVK",
                    "type": "recommended"
                },
                {
                    "name": "LRBP",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "MVK",
                    "type": "synonym"
                },
                {
                    "name": "MVLK",
                    "type": "synonym"
                },
                {
                    "name": "POROK3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03426-1",
            "evidence": [
                {
                    "id": "260920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/260920"
                },
                {
                    "id": "0081450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07277-1",
            "uniprot_ac": "P07277",
            "uniprot_id": "ERG12_YEAST",
            "refseq_ac": "NP_013935",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mevalonate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.36",
                    "type": "synonym"
                },
                {
                    "name": "Ergosterol biosynthesis protein 12",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "MvK",
                    "type": "synonym"
                },
                {
                    "name": "Regulation of autonomous replication protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mevalonate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG12",
                    "type": "recommended"
                },
                {
                    "name": "ERG12",
                    "type": "synonym"
                },
                {
                    "name": "RAR1",
                    "type": "synonym"
                },
                {
                    "name": "YM8261.02",
                    "type": "synonym"
                }
            ],
            "record_id": "P07277-1",
            "evidence": [
                {
                    "id": "0081450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17256-1",
            "uniprot_ac": "P17256",
            "uniprot_id": "KIME_RAT",
            "refseq_ac": "NP_112325",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mevalonate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.36",
                    "type": "synonym"
                },
                {
                    "name": "LHR mRNA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "mevalonate kinase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mvk",
                    "type": "recommended"
                },
                {
                    "name": "Lrbp",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "Mvk",
                    "type": "synonym"
                }
            ],
            "record_id": "P17256-1",
            "evidence": [
                {
                    "id": "0081450",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081450"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081450"
}