{
    "disease_id": "DOID:0112165",
    "recommended_name": {
        "id": "DOID:0112165",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112165",
        "name": "autosomal dominant nonsyndromic deafness 74",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112165",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112165",
            "name": "DFNA74",
            "description": ""
        },
        {
            "id": "MONDO:0029137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029137",
            "name": "hearing loss, autosomal dominant 74",
            "description": ""
        },
        {
            "id": "MONDO:0029137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029137",
            "name": "DFNA74",
            "description": ""
        },
        {
            "id": "MONDO:0029137",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029137",
            "name": "deafness, autosomal dominant 74",
            "description": ""
        },
        {
            "id": "MIM:618140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618140",
            "name": "Deafness, autosomal dominant, 74",
            "description": "Deafness, autosomal dominant, 74"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112165"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112165",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112165",
            "categories": []
        },
        {
            "id": "MONDO:0029137",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029137",
            "categories": []
        },
        {
            "id": "MIM:618140",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HXQ5-1",
            "uniprot_ac": "A0AC58HXQ5",
            "uniprot_id": "A0AC58HXQ5_DANRE",
            "refseq_ac": "XP_073786767",
            "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 specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde1cb",
                    "type": "recommended"
                },
                {
                    "name": "pde1cb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HXQ5-1",
            "evidence": [
                {
                    "id": "0112165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64338-3",
            "uniprot_ac": "Q64338",
            "uniprot_id": "PDE1C_MOUSE",
            "refseq_ac": "NP_001020739",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "recommended"
                },
                {
                    "name": "3',5'-cyclic-AMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3',5'-cyclic-GMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "Cam-PDE 1C",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "synonym"
                },
                {
                    "name": "cam-PDE 1C",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde1c",
                    "type": "recommended"
                },
                {
                    "name": "Pde1c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64338-3",
            "evidence": [
                {
                    "id": "0112165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14123-1",
            "uniprot_ac": "Q14123",
            "uniprot_id": "PDE1C_HUMAN",
            "refseq_ac": "NP_001177987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "recommended"
                },
                {
                    "name": "3',5'-cyclic-AMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3',5'-cyclic-GMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "Cam-PDE 1C",
                    "type": "synonym"
                },
                {
                    "name": "Hcam3",
                    "type": "synonym"
                },
                {
                    "name": "Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A)",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 1C, calmodulin-dependent 70kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE1C",
                    "type": "recommended"
                },
                {
                    "name": "DFNA74",
                    "type": "synonym"
                },
                {
                    "name": "Hcam3",
                    "type": "synonym"
                },
                {
                    "name": "PDE1C",
                    "type": "synonym"
                },
                {
                    "name": "cam-PDE 1C",
                    "type": "synonym"
                },
                {
                    "name": "hCam-3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14123-1",
            "evidence": [
                {
                    "id": "618140",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618140"
                },
                {
                    "id": "0112165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112165"
                }
            ]
        },
        {
            "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": "0112165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63421-1",
            "uniprot_ac": "Q63421",
            "uniprot_id": "PDE1C_RAT",
            "refseq_ac": "NP_112340",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "recommended"
                },
                {
                    "name": "3',5'-cyclic-AMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3',5'-cyclic-GMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "Cam-PDE 1C",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "synonym"
                },
                {
                    "name": "cam-PDE 1C",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide phosphodiesterase 1 C",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 1C calmodulin-dependent (70kD)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde1c",
                    "type": "recommended"
                },
                {
                    "name": "Pde1c2",
                    "type": "synonym"
                },
                {
                    "name": "Pde1c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63421-1",
            "evidence": [
                {
                    "id": "0112165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZV4-1",
            "uniprot_ac": "B7YZV4",
            "uniprot_id": "PDE1_DROME",
            "refseq_ac": "NP_001137816",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "CG44007-PB",
                    "type": "synonym"
                },
                {
                    "name": "PDE1",
                    "type": "synonym"
                },
                {
                    "name": "Pde1c-PB",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 1c, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde1c",
                    "type": "recommended"
                },
                {
                    "name": "CG14940",
                    "type": "synonym"
                },
                {
                    "name": "CG14942",
                    "type": "synonym"
                },
                {
                    "name": "CG14943",
                    "type": "synonym"
                },
                {
                    "name": "CG14944",
                    "type": "synonym"
                },
                {
                    "name": "CG31757",
                    "type": "synonym"
                },
                {
                    "name": "CG31758",
                    "type": "synonym"
                },
                {
                    "name": "CG42325",
                    "type": "synonym"
                },
                {
                    "name": "CG44007",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44007",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44007",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0264815",
                    "type": "synonym"
                },
                {
                    "name": "PDE1C",
                    "type": "synonym"
                },
                {
                    "name": "PDE1c",
                    "type": "synonym"
                },
                {
                    "name": "PDE1",
                    "type": "synonym"
                },
                {
                    "name": "Pde1c",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_1440",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZV4-1",
            "evidence": [
                {
                    "id": "0112165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112165"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112165"
}