{
    "disease_id": "DOID:0070547",
    "recommended_name": {
        "id": "DOID:0070547",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070547",
        "name": "primary pigmented nodular adrenocortical disease 2",
        "description": "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070547",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070547",
            "name": "PPNAD2",
            "description": ""
        },
        {
            "id": "MONDO:0012505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012505",
            "name": "pigmented nodular adrenocortical disease, primary, 2",
            "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene."
        },
        {
            "id": "MONDO:0012505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012505",
            "name": "PDE11A primary pigmented nodular adrenocortical disease",
            "description": ""
        },
        {
            "id": "MONDO:0012505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012505",
            "name": "pigmented nodular adrenocortical disease, primary, 2",
            "description": ""
        },
        {
            "id": "MONDO:0012505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012505",
            "name": "pigmented nodular adrenocortical disease, primary, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012505",
            "name": "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A",
            "description": ""
        },
        {
            "id": "MONDO:0012505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012505",
            "name": "PPNAD2",
            "description": ""
        },
        {
            "id": "MIM:610475",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610475",
            "name": "Primary pigmented nodular adrenocortical disease 2",
            "description": "Primary pigmented nodular adrenocortical disease 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070547"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070547",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070547",
            "categories": []
        },
        {
            "id": "MONDO:0012505",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012505",
            "categories": []
        },
        {
            "id": "MIM:610475",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610475",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q4Q7-1",
            "uniprot_ac": "F1Q4Q7",
            "uniprot_id": "F1Q4Q7_DANRE",
            "refseq_ac": "XP_689838",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde11a",
                    "type": "recommended"
                },
                {
                    "name": "pde11a",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q4Q7-1",
            "evidence": [
                {
                    "id": "0070547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7TE02-1",
            "uniprot_ac": "A0A8N7TE02",
            "uniprot_id": "A0A8N7TE02_DANRE",
            "refseq_ac": "XP_697567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde11al",
                    "type": "recommended"
                },
                {
                    "name": "pde11al",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TE02-1",
            "evidence": [
                {
                    "id": "0070547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C1Q2-1",
            "uniprot_ac": "P0C1Q2",
            "uniprot_id": "PDE11_MOUSE",
            "refseq_ac": "NP_001074502",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.53",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cGMP phosphodiesterase 11A",
                    "type": "synonym"
                },
                {
                    "name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde11a",
                    "type": "recommended"
                },
                {
                    "name": "6330414F14Rik",
                    "type": "synonym"
                },
                {
                    "name": "A630086N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm350",
                    "type": "synonym"
                },
                {
                    "name": "PDE11A1",
                    "type": "synonym"
                },
                {
                    "name": "Pde11a",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C1Q2-1",
            "evidence": [
                {
                    "id": "0070547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCR9-1",
            "uniprot_ac": "Q9HCR9",
            "uniprot_id": "PDE11_HUMAN",
            "refseq_ac": "NP_001070664",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.53",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cGMP cyclic nucleotide phosphodiesterase 11A",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cGMP phosphodiesterase 11A",
                    "type": "synonym"
                },
                {
                    "name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE11A",
                    "type": "recommended"
                },
                {
                    "name": "PDE11A",
                    "type": "synonym"
                },
                {
                    "name": "PPNAD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCR9-1",
            "evidence": [
                {
                    "id": "610475",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610475"
                },
                {
                    "id": "0070547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10715-1",
            "uniprot_ac": "P10715",
            "uniprot_id": "CYC2_RAT",
            "refseq_ac": "NP_036972",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c, testis-specific",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome C testis specific",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c, testis-specific",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyct",
                    "type": "recommended"
                },
                {
                    "name": "Pde11a",
                    "type": "recommended"
                },
                {
                    "name": "CYCTA",
                    "type": "synonym"
                },
                {
                    "name": "Cyct",
                    "type": "synonym"
                }
            ],
            "record_id": "P10715-1",
            "evidence": [
                {
                    "id": "0070547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ79-1",
            "uniprot_ac": "Q9VJ79",
            "uniprot_id": "PDE11_DROME",
            "refseq_ac": "NP_001097177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.53",
                    "type": "synonym"
                },
                {
                    "name": "CG34341-PC",
                    "type": "synonym"
                },
                {
                    "name": "PDE11",
                    "type": "synonym"
                },
                {
                    "name": "Pde11-PC",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cGMP phosphodiesterase 11",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 11, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde11",
                    "type": "recommended"
                },
                {
                    "name": "CG10231",
                    "type": "synonym"
                },
                {
                    "name": "CG15159",
                    "type": "synonym"
                },
                {
                    "name": "CG34341",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34341",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34341",
                    "type": "synonym"
                },
                {
                    "name": "PDE11",
                    "type": "synonym"
                },
                {
                    "name": "Pde11",
                    "type": "synonym"
                },
                {
                    "name": "pde11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ79-1",
            "evidence": [
                {
                    "id": "0070547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070547"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070547"
}