{
    "disease_id": "DOID:0111511",
    "recommended_name": {
        "id": "DOID:0111511",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111511",
        "name": "melanoma and neural system tumor syndrome",
        "description": "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111511",
            "name": "melanoma-astrocytoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007967",
            "name": "melanoma and neural system tumor syndrome",
            "description": "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)."
        },
        {
            "id": "MONDO:0007967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007967",
            "name": "melanoma and neural system tumor syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007967",
            "name": "melanoma-astrocytoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007967",
            "name": "melanoma astrocytoma syndrome",
            "description": ""
        },
        {
            "id": "MIM:155755",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/155755",
            "name": "Melanoma-astrocytoma syndrome",
            "description": "Melanoma-astrocytoma syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111511"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111511",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111511",
            "categories": []
        },
        {
            "id": "MONDO:0007967",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007967",
            "categories": []
        },
        {
            "id": "MIM:155755",
            "database": "MIM",
            "url": "https://www.omim.org/entry/155755",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QFU2-1",
            "uniprot_ac": "E9QFU2",
            "uniprot_id": "E9QFU2_DANRE",
            "refseq_ac": "XP_002660514",
            "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 2A",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "b",
                    "type": "recommended"
                },
                {
                    "name": "cdkn2a/b",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QFU2-1",
            "evidence": [
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55271-1",
            "uniprot_ac": "P55271",
            "uniprot_id": "CDN2B_MOUSE",
            "refseq_ac": "NP_031696",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 4 inhibitor B",
                    "type": "recommended"
                },
                {
                    "name": "cyclin-dependent kinase 4 inhibitor B",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor p15INK4b",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor protein",
                    "type": "synonym"
                },
                {
                    "name": "p14-INK4b",
                    "type": "synonym"
                },
                {
                    "name": "p15-INK4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkn2b",
                    "type": "recommended"
                },
                {
                    "name": "Cdkn2b",
                    "type": "synonym"
                },
                {
                    "name": "INK4b",
                    "type": "synonym"
                },
                {
                    "name": "MTS2",
                    "type": "synonym"
                },
                {
                    "name": "p15(INK4b)",
                    "type": "synonym"
                },
                {
                    "name": "p15INK4b",
                    "type": "synonym"
                },
                {
                    "name": "p15",
                    "type": "synonym"
                }
            ],
            "record_id": "P55271-1",
            "evidence": [
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64364-1",
            "uniprot_ac": "Q64364",
            "uniprot_id": "ARF_MOUSE",
            "refseq_ac": "NP_034007",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor suppressor ARF",
                    "type": "recommended"
                },
                {
                    "name": "ARF",
                    "type": "synonym"
                },
                {
                    "name": "Alternative reading frame",
                    "type": "synonym"
                },
                {
                    "name": "CDK4I",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase inhibitor 2A",
                    "type": "synonym"
                },
                {
                    "name": "alternative reading frame",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 4 inhibitor A",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 2A isoform p19ARF",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial smARF",
                    "type": "synonym"
                },
                {
                    "name": "p16-INK4a",
                    "type": "synonym"
                },
                {
                    "name": "p16-INK4",
                    "type": "synonym"
                },
                {
                    "name": "p19ARF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkn2a",
                    "type": "recommended"
                },
                {
                    "name": "ARF-INK4a",
                    "type": "synonym"
                },
                {
                    "name": "Arf",
                    "type": "synonym"
                },
                {
                    "name": "Cdkn2a",
                    "type": "synonym"
                },
                {
                    "name": "INK4a-ARF",
                    "type": "synonym"
                },
                {
                    "name": "Ink4a/Arf",
                    "type": "synonym"
                },
                {
                    "name": "MTS1",
                    "type": "synonym"
                },
                {
                    "name": "P16ink4a",
                    "type": "synonym"
                },
                {
                    "name": "Pctr1",
                    "type": "synonym"
                },
                {
                    "name": "p16(INK4a)",
                    "type": "synonym"
                },
                {
                    "name": "p16INK4a",
                    "type": "synonym"
                },
                {
                    "name": "p16",
                    "type": "synonym"
                },
                {
                    "name": "p19<ARF>",
                    "type": "synonym"
                },
                {
                    "name": "p19ARF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64364-1",
            "evidence": [
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42771-1",
            "uniprot_ac": "P42771",
            "uniprot_id": "CDN2A_HUMAN",
            "refseq_ac": "NP_000068",
            "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 2A",
                    "type": "recommended"
                },
                {
                    "name": "CDK4 inhibitor p16-INK4",
                    "type": "synonym"
                },
                {
                    "name": "CDK4I",
                    "type": "synonym"
                },
                {
                    "name": "CDKN2A/ARF Intron 2 lncRNA",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase 4 inhibitor A",
                    "type": "synonym"
                },
                {
                    "name": "MTS-1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple tumor suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "alternative reading frame",
                    "type": "synonym"
                },
                {
                    "name": "cell cycle negative regulator beta",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 4 inhibitor A",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 2A isoform p16INK4a",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of cdk4 A",
                    "type": "synonym"
                },
                {
                    "name": "multiple tumor suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple tumour suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "p16-INK4a",
                    "type": "synonym"
                },
                {
                    "name": "p16-INK4",
                    "type": "synonym"
                },
                {
                    "name": "p16INK4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDKN2A",
                    "type": "recommended"
                },
                {
                    "name": "ARF",
                    "type": "synonym"
                },
                {
                    "name": "CAI2",
                    "type": "synonym"
                },
                {
                    "name": "CDK4I",
                    "type": "synonym"
                },
                {
                    "name": "CDKN2A",
                    "type": "synonym"
                },
                {
                    "name": "CDKN2",
                    "type": "synonym"
                },
                {
                    "name": "CMM2",
                    "type": "synonym"
                },
                {
                    "name": "INK4A",
                    "type": "synonym"
                },
                {
                    "name": "INK4",
                    "type": "synonym"
                },
                {
                    "name": "MLM",
                    "type": "synonym"
                },
                {
                    "name": "MTS-1",
                    "type": "synonym"
                },
                {
                    "name": "MTS1",
                    "type": "synonym"
                },
                {
                    "name": "P14ARF",
                    "type": "synonym"
                },
                {
                    "name": "P14",
                    "type": "synonym"
                },
                {
                    "name": "P16-INK4A",
                    "type": "synonym"
                },
                {
                    "name": "P16INK4A",
                    "type": "synonym"
                },
                {
                    "name": "P16INK4",
                    "type": "synonym"
                },
                {
                    "name": "P16",
                    "type": "synonym"
                },
                {
                    "name": "P19ARF",
                    "type": "synonym"
                },
                {
                    "name": "P19",
                    "type": "synonym"
                },
                {
                    "name": "TP16",
                    "type": "synonym"
                }
            ],
            "record_id": "P42771-1",
            "evidence": [
                {
                    "id": "155755",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/155755"
                },
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55272-1",
            "uniprot_ac": "P55272",
            "uniprot_id": "CDN2B_RAT",
            "refseq_ac": "NP_570825",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 4 inhibitor B",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin dependent kinase inhibitor 2B (p15, inhibits CDK4)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 4 inhibitor B",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)",
                    "type": "synonym"
                },
                {
                    "name": "p14-INK4b",
                    "type": "synonym"
                },
                {
                    "name": "p15-INK4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkn2b",
                    "type": "recommended"
                },
                {
                    "name": "Cdkn2b",
                    "type": "synonym"
                },
                {
                    "name": "Ink4",
                    "type": "synonym"
                },
                {
                    "name": "p15",
                    "type": "synonym"
                }
            ],
            "record_id": "P55272-1",
            "evidence": [
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZZ9-1",
            "uniprot_ac": "Q8QZZ9",
            "uniprot_id": "ARF_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor suppressor ARF",
                    "type": "recommended"
                },
                {
                    "name": "ARF",
                    "type": "synonym"
                },
                {
                    "name": "Alternative reading frame",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase inhibitor 2A",
                    "type": "synonym"
                },
                {
                    "name": "p19ARF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkn2a",
                    "type": "recommended"
                },
                {
                    "name": "P16ink4a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZZ9-1",
            "evidence": [
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q10570-1",
            "uniprot_ac": "Q10570",
            "uniprot_id": "CPSF1_HUMAN",
            "refseq_ac": "NP_037423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cleavage and polyadenylation specificity factor subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CPSF 160 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage and polyadenylation specificity factor 160 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation specific factor 1, 160kDa",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation specificity factor 160 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation specificity factor subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "polyadenylation specificity factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPSF1",
                    "type": "recommended"
                },
                {
                    "name": "CPSF160",
                    "type": "synonym"
                },
                {
                    "name": "CPSF1",
                    "type": "synonym"
                },
                {
                    "name": "HSU37012",
                    "type": "synonym"
                },
                {
                    "name": "MYP27",
                    "type": "synonym"
                },
                {
                    "name": "P/cl.18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q10570-1",
            "evidence": [
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31327-1",
            "uniprot_ac": "P31327",
            "uniprot_id": "CPSM_HUMAN",
            "refseq_ac": "NP_001866",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbamoyl-phosphate synthase [ammonia], mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.16",
                    "type": "synonym"
                },
                {
                    "name": "CPSase I",
                    "type": "synonym"
                },
                {
                    "name": "Carbamoyl-phosphate synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl-phosphate synthase (ammonia)",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl-phosphate synthase 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "carbamoylphosphate synthetase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPS1",
                    "type": "recommended"
                },
                {
                    "name": "CPS1D",
                    "type": "synonym"
                },
                {
                    "name": "CPS1",
                    "type": "synonym"
                },
                {
                    "name": "CPSASE1",
                    "type": "synonym"
                },
                {
                    "name": "GATD6",
                    "type": "synonym"
                },
                {
                    "name": "PHN",
                    "type": "synonym"
                }
            ],
            "record_id": "P31327-1",
            "evidence": [
                {
                    "id": "0111511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111511"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111511"
}