{
    "disease_id": "DOID:0070504",
    "recommended_name": {
        "id": "DOID:0070504",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070504",
        "name": "mitochondrial complex IV deficiency nuclear type 19",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070504",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070504",
            "name": "MC4DN19",
            "description": ""
        },
        {
            "id": "MONDO:0033654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033654",
            "name": "mitochondrial complex IV deficiency, nuclear type 19",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET117 gene. It is characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy."
        },
        {
            "id": "MONDO:0033654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033654",
            "name": "MC4DN19",
            "description": ""
        },
        {
            "id": "MONDO:0033654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033654",
            "name": "mitochondrial complex IV deficiency, nuclear type 19",
            "description": ""
        },
        {
            "id": "MIM:619063",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619063",
            "name": "Mitochondrial complex IV deficiency, nuclear type 19",
            "description": "Mitochondrial complex IV deficiency, nuclear type 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070504"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070504",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070504",
            "categories": []
        },
        {
            "id": "MONDO:0033654",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033654",
            "categories": []
        },
        {
            "id": "MIM:619063",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619063",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0DJF2-1",
            "uniprot_ac": "P0DJF2",
            "uniprot_id": "PT117_MOUSE",
            "refseq_ac": "NP_001158285",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PET117 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Protein PET117 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein PET117 homolog, mitochondrial precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pet117",
                    "type": "recommended"
                },
                {
                    "name": "Gm20571",
                    "type": "synonym"
                },
                {
                    "name": "Pet117",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DJF2-1",
            "evidence": [
                {
                    "id": "0070504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UWS5-1",
            "uniprot_ac": "Q6UWS5",
            "uniprot_id": "PT117_HUMAN",
            "refseq_ac": "NP_001158283",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PET117 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "alternative protein CSRP2BP",
                    "type": "synonym"
                },
                {
                    "name": "protein PET117 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein PET117 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PET117",
                    "type": "recommended"
                },
                {
                    "name": "CSRP2BP",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN19",
                    "type": "synonym"
                },
                {
                    "name": "PET117",
                    "type": "synonym"
                },
                {
                    "name": "PRO1194",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UWS5-1",
            "evidence": [
                {
                    "id": "619063",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619063"
                },
                {
                    "id": "0070504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02771-1",
            "uniprot_ac": "Q02771",
            "uniprot_id": "PT117_YEAST",
            "refseq_ac": "NP_010979",
            "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": "Protein PET117, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Pet117p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PET117",
                    "type": "recommended"
                },
                {
                    "name": "PET117",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02771-1",
            "evidence": [
                {
                    "id": "0070504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L5V1-1",
            "uniprot_ac": "A0ABK0L5V1",
            "uniprot_id": "A0ABK0L5V1_RAT",
            "refseq_ac": "XP_063141387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PET117 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein PET117 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pet117",
                    "type": "recommended"
                },
                {
                    "name": "LOC134486458",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L5V1-1",
            "evidence": [
                {
                    "id": "0070504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPN3-1",
            "uniprot_ac": "Q9VPN3",
            "uniprot_id": "Q9VPN3_DROME",
            "refseq_ac": "NP_608516",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PET117 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG11562-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11562",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE44650",
                    "type": "synonym"
                },
                {
                    "name": "CG11562",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11562",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11562",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPN3-1",
            "evidence": [
                {
                    "id": "0070504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070504"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070504"
}