{
    "disease_id": "DOID:0110501",
    "recommended_name": {
        "id": "DOID:0110501",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110501",
        "name": "autosomal recessive nonsyndromic deafness 44",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110501",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110501",
            "name": "DFNB44",
            "description": ""
        },
        {
            "id": "DOID:0110501",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110501",
            "name": "autosomal recessive deafness 44",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "autosomal recessive nonsyndromic hearing loss 44",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene."
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "ADCY1 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "DFNB44",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "autosomal recessive deafness 44",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "autosomal recessive nonsyndromic deafness 44",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in ADCY1",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "autosomal recessive nonsyndromic deafness type 44",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "deafness, autosomal recessive 44",
            "description": ""
        },
        {
            "id": "MONDO:0012421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "name": "deafness, autosomal recessive type 44",
            "description": ""
        },
        {
            "id": "MIM:610154",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610154",
            "name": "Deafness, autosomal recessive, 44",
            "description": "Deafness, autosomal recessive, 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110501"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110501",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110501",
            "categories": []
        },
        {
            "id": "MONDO:0012421",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012421",
            "categories": []
        },
        {
            "id": "MIM:610154",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610154",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88444-1",
            "uniprot_ac": "O88444",
            "uniprot_id": "ADCY1_MOUSE",
            "refseq_ac": "NP_033752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate cyclase type 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP pyrophosphate-lyase 1",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase type I",
                    "type": "synonym"
                },
                {
                    "name": "Adenylyl cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ca(2+)/calmodulin-activated adenylyl cyclase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 1",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type I",
                    "type": "synonym"
                },
                {
                    "name": "adenylyl cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "barrelless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adcy1",
                    "type": "recommended"
                },
                {
                    "name": "AC1",
                    "type": "synonym"
                },
                {
                    "name": "Adcy1",
                    "type": "synonym"
                },
                {
                    "name": "D11Bwg1392e",
                    "type": "synonym"
                },
                {
                    "name": "I-AC",
                    "type": "synonym"
                },
                {
                    "name": "brl",
                    "type": "synonym"
                }
            ],
            "record_id": "O88444-1",
            "evidence": [
                {
                    "id": "0110501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08828-1",
            "uniprot_ac": "Q08828",
            "uniprot_id": "ADCY1_HUMAN",
            "refseq_ac": "NP_066939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate cyclase type 1",
                    "type": "recommended"
                },
                {
                    "name": "3',5'-cyclic AMP synthetase",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP pyrophosphate-lyase 1",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase type I",
                    "type": "synonym"
                },
                {
                    "name": "Adenylyl cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ca(2+)/calmodulin-activated adenylyl cyclase",
                    "type": "synonym"
                },
                {
                    "name": "adenyl cyclase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase 1 (brain)",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 1",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type I",
                    "type": "synonym"
                },
                {
                    "name": "adenylyl cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "adenylyl cyclase subtype 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADCY1",
                    "type": "recommended"
                },
                {
                    "name": "AC1",
                    "type": "synonym"
                },
                {
                    "name": "ADCY1",
                    "type": "synonym"
                },
                {
                    "name": "DFNB44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08828-1",
            "evidence": [
                {
                    "id": "610154",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610154"
                },
                {
                    "id": "0110501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LB28-1",
            "uniprot_ac": "A0ABK0LB28",
            "uniprot_id": "A0ABK0LB28_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate cyclase type 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adcy1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LB28-1",
            "evidence": [
                {
                    "id": "0110501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32870-1",
            "uniprot_ac": "P32870",
            "uniprot_id": "CYA1_DROME",
            "refseq_ac": "NP_511156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate cyclase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP pyrophosphate-lyase",
                    "type": "synonym"
                },
                {
                    "name": "CG9533-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ca(2+)/calmodulin-responsive adenylate cyclase",
                    "type": "synonym"
                },
                {
                    "name": "Protein rutabaga",
                    "type": "synonym"
                },
                {
                    "name": "RUTABAGA",
                    "type": "synonym"
                },
                {
                    "name": "adenylyl cyclase",
                    "type": "synonym"
                },
                {
                    "name": "rut-PA",
                    "type": "synonym"
                },
                {
                    "name": "rutabaga, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "rutabage",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adcy1",
                    "type": "recommended"
                },
                {
                    "name": "AC",
                    "type": "synonym"
                },
                {
                    "name": "Ac12F",
                    "type": "synonym"
                },
                {
                    "name": "CG9533",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9533",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9533",
                    "type": "synonym"
                },
                {
                    "name": "EP1603",
                    "type": "synonym"
                },
                {
                    "name": "RUT",
                    "type": "synonym"
                },
                {
                    "name": "Rut-AC",
                    "type": "synonym"
                },
                {
                    "name": "Rut",
                    "type": "synonym"
                },
                {
                    "name": "dADCY1",
                    "type": "synonym"
                },
                {
                    "name": "rut",
                    "type": "synonym"
                }
            ],
            "record_id": "P32870-1",
            "evidence": [
                {
                    "id": "0110501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110501"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110501"
}