{
    "disease_id": "DOID:0111467",
    "recommended_name": {
        "id": "DOID:0111467",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111467",
        "name": "combined oxidative phosphorylation deficiency 13",
        "description": "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111467",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111467",
            "name": "COXPD13",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation defect type 13",
            "description": "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive."
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "COXPD13",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "PNPT1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in PNPT1",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation deficiency type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation deficiency 13",
            "description": ""
        },
        {
            "id": "MIM:614932",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614932",
            "name": "Combined oxidative phosphorylation deficiency 13",
            "description": "Combined oxidative phosphorylation deficiency 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111467"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111467",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111467",
            "categories": []
        },
        {
            "id": "MONDO:0013977",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "categories": []
        },
        {
            "id": "MIM:614932",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614932",
            "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": "0111467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111467"
                }
            ]
        },
        {
            "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": "614932",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614932"
                },
                {
                    "id": "0111467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111467"
                }
            ]
        },
        {
            "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": "0111467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111467"
                }
            ]
        },
        {
            "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": "0111467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111467"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111467"
}