{
    "disease_id": "DOID:0080137",
    "recommended_name": {
        "id": "DOID:0080137",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080137",
        "name": "multiple endocrine neoplasia type 4",
        "description": "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked."
    },
    "synonyms": [
        {
            "id": "DOID:0080137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080137",
            "name": "Multiple Endocrine Neoplasia, Type IV",
            "description": ""
        },
        {
            "id": "MONDO:0012552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012552",
            "name": "multiple endocrine neoplasia type 4",
            "description": "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors."
        },
        {
            "id": "MONDO:0012552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012552",
            "name": "CDKN1B multiple endocrine neoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012552",
            "name": "MEN4",
            "description": ""
        },
        {
            "id": "MONDO:0012552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012552",
            "name": "multiple endocrine neoplasia caused by mutation in CDKN1B",
            "description": ""
        },
        {
            "id": "MONDO:0012552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012552",
            "name": "multiple endocrine neoplasia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012552",
            "name": "multiple endocrine neoplasia, type IV",
            "description": ""
        },
        {
            "id": "MIM:610755",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610755",
            "name": "Multiple endocrine neoplasia 4",
            "description": "Multiple endocrine neoplasia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080137"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080137",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080137",
            "categories": []
        },
        {
            "id": "MONDO:0012552",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012552",
            "categories": []
        },
        {
            "id": "MIM:610755",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610755",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RGY9-1",
            "uniprot_ac": "Q5RGY9",
            "uniprot_id": "Q5RGY9_DANRE",
            "refseq_ac": "NP_001013286",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase inhibitor 1B",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin-dependent kinase inhibitor p27",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 1Ba",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 1b, like",
                    "type": "synonym"
                },
                {
                    "name": "kip1",
                    "type": "synonym"
                },
                {
                    "name": "p27Kip1",
                    "type": "synonym"
                },
                {
                    "name": "p27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdkn1ba",
                    "type": "recommended"
                },
                {
                    "name": "cdkn1ba",
                    "type": "synonym"
                },
                {
                    "name": "cdkn1bl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGY9-1",
            "evidence": [
                {
                    "id": "0080137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46414-1",
            "uniprot_ac": "P46414",
            "uniprot_id": "CDN1B_MOUSE",
            "refseq_ac": "NP_034005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase inhibitor 1B",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin-dependent kinase inhibitor p27",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 1B",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor p27",
                    "type": "synonym"
                },
                {
                    "name": "p27Kip1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkn1b",
                    "type": "recommended"
                },
                {
                    "name": "Cdkn1b",
                    "type": "synonym"
                },
                {
                    "name": "Kip1",
                    "type": "synonym"
                },
                {
                    "name": "p27Kip1",
                    "type": "synonym"
                },
                {
                    "name": "p27",
                    "type": "synonym"
                }
            ],
            "record_id": "P46414-1",
            "evidence": [
                {
                    "id": "0080137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46527-1",
            "uniprot_ac": "P46527",
            "uniprot_id": "CDN1B_HUMAN",
            "refseq_ac": "NP_004055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase inhibitor 1B",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin-dependent kinase inhibitor p27",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 1B (p27, Kip1)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 1B",
                    "type": "synonym"
                },
                {
                    "name": "p27Kip1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDKN1B",
                    "type": "recommended"
                },
                {
                    "name": "CDKN1B",
                    "type": "synonym"
                },
                {
                    "name": "CDKN4",
                    "type": "synonym"
                },
                {
                    "name": "KIP1",
                    "type": "synonym"
                },
                {
                    "name": "MEN1B",
                    "type": "synonym"
                },
                {
                    "name": "MEN4",
                    "type": "synonym"
                },
                {
                    "name": "P27KIP1",
                    "type": "synonym"
                },
                {
                    "name": "p27",
                    "type": "synonym"
                }
            ],
            "record_id": "P46527-1",
            "evidence": [
                {
                    "id": "610755",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610755"
                },
                {
                    "id": "0080137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08769-1",
            "uniprot_ac": "O08769",
            "uniprot_id": "O08769_RAT",
            "refseq_ac": "NP_113950",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase inhibitor 1B",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin-dependent kinase inhibitor 1B (p27, Kip1)",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase inhibitor p27",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 1B",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor p27/Kip1",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor p27",
                    "type": "synonym"
                },
                {
                    "name": "p27Kip1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkn1b",
                    "type": "recommended"
                },
                {
                    "name": "CDKN4",
                    "type": "synonym"
                },
                {
                    "name": "Cdki1b",
                    "type": "synonym"
                },
                {
                    "name": "Cdkn1b",
                    "type": "synonym"
                },
                {
                    "name": "Kip1",
                    "type": "synonym"
                },
                {
                    "name": "P27KIP1",
                    "type": "synonym"
                },
                {
                    "name": "p27",
                    "type": "synonym"
                }
            ],
            "record_id": "O08769-1",
            "evidence": [
                {
                    "id": "0080137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080137"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080137"
}