{
    "disease_id": "DOID:0110521",
    "recommended_name": {
        "id": "DOID:0110521",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110521",
        "name": "autosomal recessive nonsyndromic deafness 70",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16."
    },
    "synonyms": [
        {
            "id": "DOID:0110521",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110521",
            "name": "DFNB70",
            "description": ""
        },
        {
            "id": "DOID:0110521",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110521",
            "name": "autosomal recessive deafness 70",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "autosomal recessive nonsyndromic hearing loss 70",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene."
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "DFNB70",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "PNPT1 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "autosomal recessive deafness 70",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "autosomal recessive nonsyndromic deafness 70",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "autosomal recessive nonsyndromic deafness type 70",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "deafness, autosomal recessive 70",
            "description": ""
        },
        {
            "id": "MONDO:0013978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "name": "deafness, autosomal recessive type 70",
            "description": ""
        },
        {
            "id": "MIM:614934",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614934",
            "name": "Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration",
            "description": "Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110521"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110521",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110521",
            "categories": []
        },
        {
            "id": "MONDO:0013978",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013978",
            "categories": []
        },
        {
            "id": "MIM:614934",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614934",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K1R3-1",
            "uniprot_ac": "Q8K1R3",
            "uniprot_id": "PNPT1_MOUSE",
            "refseq_ac": "NP_082145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyribonucleotide nucleotidyltransferase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.8",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' RNA exonuclease OLD35",
                    "type": "synonym"
                },
                {
                    "name": "PNPase 1",
                    "type": "synonym"
                },
                {
                    "name": "PNPase old-35",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide phosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide phosphorylase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide phosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide phosphorylase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide nucleotidyltransferase 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpt1",
                    "type": "recommended"
                },
                {
                    "name": "1200003F12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Old35",
                    "type": "synonym"
                },
                {
                    "name": "PNPase",
                    "type": "synonym"
                },
                {
                    "name": "Pnpase",
                    "type": "synonym"
                },
                {
                    "name": "Pnpt1",
                    "type": "synonym"
                },
                {
                    "name": "Pnptl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1R3-1",
            "evidence": [
                {
                    "id": "0110521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110521"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TCS8-1",
            "uniprot_ac": "Q8TCS8",
            "uniprot_id": "PNPT1_HUMAN",
            "refseq_ac": "NP_149100",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyribonucleotide nucleotidyltransferase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.8",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' RNA exonuclease OLD35",
                    "type": "synonym"
                },
                {
                    "name": "PNPase 1",
                    "type": "synonym"
                },
                {
                    "name": "PNPase old-35",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide phosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide phosphorylase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide phosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide phosphorylase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide nucleotidyltransferase 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPT1",
                    "type": "recommended"
                },
                {
                    "name": "COXPD13",
                    "type": "synonym"
                },
                {
                    "name": "DFNB70",
                    "type": "synonym"
                },
                {
                    "name": "OLD35",
                    "type": "synonym"
                },
                {
                    "name": "PNPASE",
                    "type": "synonym"
                },
                {
                    "name": "PNPT1",
                    "type": "synonym"
                },
                {
                    "name": "SCA25",
                    "type": "synonym"
                },
                {
                    "name": "old-35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TCS8-1",
            "evidence": [
                {
                    "id": "614934",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614934"
                },
                {
                    "id": "0110521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110521"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6G7-1",
            "uniprot_ac": "G3V6G7",
            "uniprot_id": "G3V6G7_RAT",
            "refseq_ac": "NP_001135843",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyribonucleotide nucleotidyltransferase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.8",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide phosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpt1",
                    "type": "recommended"
                },
                {
                    "name": "Pnpt1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6G7-1",
            "evidence": [
                {
                    "id": "0110521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110521"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9X7-1",
            "uniprot_ac": "Q9V9X7",
            "uniprot_id": "Q9V9X7_DROME",
            "refseq_ac": "NP_001097990",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "polyribonucleotide nucleotidyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.8",
                    "type": "synonym"
                },
                {
                    "name": "CG11337-PE",
                    "type": "synonym"
                },
                {
                    "name": "PNPase-PE",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide phosphorylase, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide phosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPase",
                    "type": "recommended"
                },
                {
                    "name": "CG11337",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11337",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11337",
                    "type": "synonym"
                },
                {
                    "name": "PNPase",
                    "type": "synonym"
                },
                {
                    "name": "dmpnpase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9X7-1",
            "evidence": [
                {
                    "id": "0110521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110521"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110521"
}