{
    "disease_id": "DOID:0111492",
    "recommended_name": {
        "id": "DOID:0111492",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111492",
        "name": "combined oxidative phosphorylation deficiency 32",
        "description": "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111492",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111492",
            "name": "COXPD32",
            "description": ""
        },
        {
            "id": "MONDO:0054654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054654",
            "name": "combined oxidative phosphorylation deficiency 32",
            "description": ""
        },
        {
            "id": "MONDO:0054654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054654",
            "name": "combined oxidative phosphorylation deficiency 32",
            "description": ""
        },
        {
            "id": "MONDO:0054654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054654",
            "name": "COXPD32",
            "description": ""
        },
        {
            "id": "MIM:617664",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617664",
            "name": "Combined oxidative phosphorylation deficiency 32",
            "description": "Combined oxidative phosphorylation deficiency 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111492"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111492",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111492",
            "categories": []
        },
        {
            "id": "MONDO:0054654",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054654",
            "categories": []
        },
        {
            "id": "MIM:617664",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617664",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QEG6-1",
            "uniprot_ac": "F1QEG6",
            "uniprot_id": "F1QEG6_DANRE",
            "refseq_ac": "NP_001007377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS34",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrps34",
                    "type": "recommended"
                },
                {
                    "name": "fa19c10",
                    "type": "synonym"
                },
                {
                    "name": "mrps34",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa19c10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101877",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QEG6-1",
            "evidence": [
                {
                    "id": "0111492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIK9-1",
            "uniprot_ac": "Q9JIK9",
            "uniprot_id": "RT34_MOUSE",
            "refseq_ac": "NP_075749",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS34",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S34, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S34",
                    "type": "synonym"
                },
                {
                    "name": "S34mt",
                    "type": "synonym"
                },
                {
                    "name": "T-complex expressed gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps34",
                    "type": "recommended"
                },
                {
                    "name": "0610007F04Rik",
                    "type": "synonym"
                },
                {
                    "name": "5330430D13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mrps34",
                    "type": "synonym"
                },
                {
                    "name": "Tce2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIK9-1",
            "evidence": [
                {
                    "id": "0111492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82930-1",
            "uniprot_ac": "P82930",
            "uniprot_id": "RT34_HUMAN",
            "refseq_ac": "NP_076425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS34",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S34, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S34",
                    "type": "synonym"
                },
                {
                    "name": "S34mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 28S ribosomal protein S34",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein mS34",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS34 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS34",
                    "type": "recommended"
                },
                {
                    "name": "COXPD32",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S12",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S34",
                    "type": "synonym"
                },
                {
                    "name": "MRPS34",
                    "type": "synonym"
                },
                {
                    "name": "mS34",
                    "type": "synonym"
                }
            ],
            "record_id": "P82930-1",
            "evidence": [
                {
                    "id": "617664",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617664"
                },
                {
                    "id": "0111492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LAI2-1",
            "uniprot_ac": "A0ABK0LAI2",
            "uniprot_id": "A0ABK0LAI2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPRY domain-containing SOCS box protein 3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps34",
                    "type": "recommended"
                },
                {
                    "name": "Spsb3",
                    "type": "recommended"
                },
                {
                    "name": "Mrps34",
                    "type": "synonym"
                },
                {
                    "name": "Spsb3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LAI2-1",
            "evidence": [
                {
                    "id": "0111492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV39-1",
            "uniprot_ac": "Q9VV39",
            "uniprot_id": "Q9VV39_DROME",
            "refseq_ac": "NP_524104",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42648-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribosomal protein S34",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) s3123",
                    "type": "synonym"
                },
                {
                    "name": "mRpS34-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS34",
                    "type": "recommended"
                },
                {
                    "name": "CG13037",
                    "type": "synonym"
                },
                {
                    "name": "CG42648",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42648",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42648",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S34",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s3123",
                    "type": "synonym"
                },
                {
                    "name": "mRpS34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV39-1",
            "evidence": [
                {
                    "id": "0111492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111492"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111492"
}