{
    "disease_id": "DOID:0070548",
    "recommended_name": {
        "id": "DOID:0070548",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070548",
        "name": "primary pigmented nodular adrenocortical disease 3",
        "description": "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070548",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070548",
            "name": "PPNAD3",
            "description": ""
        },
        {
            "id": "MONDO:0013616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013616",
            "name": "pigmented nodular adrenocortical disease, primary, 3",
            "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene."
        },
        {
            "id": "MONDO:0013616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013616",
            "name": "PDE8B primary pigmented nodular adrenocortical disease",
            "description": ""
        },
        {
            "id": "MONDO:0013616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013616",
            "name": "pigmented nodular adrenocortical disease, primary, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013616",
            "name": "pigmented nodular adrenocortical disease, primary, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013616",
            "name": "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B",
            "description": ""
        },
        {
            "id": "MONDO:0013616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013616",
            "name": "PPNAD3",
            "description": ""
        },
        {
            "id": "MIM:614190",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614190",
            "name": "Primary pigmented nodular adrenocortical disease 3",
            "description": "Primary pigmented nodular adrenocortical disease 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070548"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070548",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070548",
            "categories": []
        },
        {
            "id": "MONDO:0013616",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013616",
            "categories": []
        },
        {
            "id": "MIM:614190",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614190",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AWN1-1",
            "uniprot_ac": "A0A8M3AWN1",
            "uniprot_id": "A0A8M3AWN1_DANRE",
            "refseq_ac": "XP_009293455",
            "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": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde8b",
                    "type": "recommended"
                },
                {
                    "name": "pde8b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AWN1-1",
            "evidence": [
                {
                    "id": "0070548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q4S1-1",
            "uniprot_ac": "E9Q4S1",
            "uniprot_id": "PDE8B_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.53",
                    "type": "synonym"
                },
                {
                    "name": "Cell proliferation-inducing gene 22 protein",
                    "type": "synonym"
                },
                {
                    "name": "PDE8B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde8b",
                    "type": "recommended"
                }
            ],
            "record_id": "E9Q4S1-1",
            "evidence": [
                {
                    "id": "0070548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95263-1",
            "uniprot_ac": "O95263",
            "uniprot_id": "PDE8B_HUMAN",
            "refseq_ac": "NP_001025022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B",
                    "type": "recommended"
                },
                {
                    "name": "3',5' cyclic nucleotide phosphodiesterase 8B",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.53",
                    "type": "synonym"
                },
                {
                    "name": "Cell proliferation-inducing gene 22 protein",
                    "type": "synonym"
                },
                {
                    "name": "HsPDE8B",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing gene 22 protein",
                    "type": "synonym"
                },
                {
                    "name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE8B",
                    "type": "recommended"
                },
                {
                    "name": "ADSD",
                    "type": "synonym"
                },
                {
                    "name": "PDE8B",
                    "type": "synonym"
                },
                {
                    "name": "PIG22",
                    "type": "synonym"
                },
                {
                    "name": "PPNAD3",
                    "type": "synonym"
                }
            ],
            "record_id": "O95263-1",
            "evidence": [
                {
                    "id": "614190",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614190"
                },
                {
                    "id": "0070548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06776-1",
            "uniprot_ac": "P06776",
            "uniprot_id": "PDE2_YEAST",
            "refseq_ac": "NP_015005",
            "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": "3',5'-cyclic-nucleotide phosphodiesterase 2",
                    "type": "recommended"
                },
                {
                    "name": "3',5'-cyclic-nucleotide phosphodiesterase PDE2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.53",
                    "type": "synonym"
                },
                {
                    "name": "High-affinity cAMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "PDEase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE2",
                    "type": "recommended"
                },
                {
                    "name": "PDE2",
                    "type": "synonym"
                },
                {
                    "name": "SRA5",
                    "type": "synonym"
                }
            ],
            "record_id": "P06776-1",
            "evidence": [
                {
                    "id": "0070548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZTX5-1",
            "uniprot_ac": "A0A8I5ZTX5",
            "uniprot_id": "A0A8I5ZTX5_RAT",
            "refseq_ac": "NP_954889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-specific cyclic nucleotide phosphodiesterase PDE8",
                    "type": "synonym"
                },
                {
                    "name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde8b",
                    "type": "recommended"
                },
                {
                    "name": "Pde8b",
                    "type": "synonym"
                },
                {
                    "name": "RNPDE8B",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZTX5-1",
            "evidence": [
                {
                    "id": "0070548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NNF2-1",
            "uniprot_ac": "Q6NNF2",
            "uniprot_id": "PDE8_DROME",
            "refseq_ac": "NP_001163274",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.53",
                    "type": "synonym"
                },
                {
                    "name": "CG45019-PI",
                    "type": "synonym"
                },
                {
                    "name": "Pde8-PI",
                    "type": "synonym"
                },
                {
                    "name": "Phosphodiesterase 8",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 8, isoform I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde8",
                    "type": "recommended"
                },
                {
                    "name": "CG42241",
                    "type": "synonym"
                },
                {
                    "name": "CG45019",
                    "type": "synonym"
                },
                {
                    "name": "CG5411",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45019",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45019",
                    "type": "synonym"
                },
                {
                    "name": "PDE8",
                    "type": "synonym"
                },
                {
                    "name": "Pde8",
                    "type": "synonym"
                },
                {
                    "name": "pde8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NNF2-1",
            "evidence": [
                {
                    "id": "0070548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070548"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070548"
}