{
    "disease_id": "DOID:0111488",
    "recommended_name": {
        "id": "DOID:0111488",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111488",
        "name": "combined oxidative phosphorylation deficiency 31",
        "description": "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111488",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111488",
            "name": "COXPD31",
            "description": ""
        },
        {
            "id": "DOID:0111488",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111488",
            "name": "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014976",
            "name": "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome",
            "description": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis."
        },
        {
            "id": "MONDO:0014976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014976",
            "name": "COXPD31",
            "description": ""
        },
        {
            "id": "MONDO:0014976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014976",
            "name": "MIPEP combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014976",
            "name": "combined oxidative phosphorylation deficiency 31",
            "description": ""
        },
        {
            "id": "MONDO:0014976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014976",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MIPEP",
            "description": ""
        },
        {
            "id": "MONDO:0014976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014976",
            "name": "combined oxidative phosphorylation deficiency type 31",
            "description": ""
        },
        {
            "id": "MIM:617228",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617228",
            "name": "Combined oxidative phosphorylation deficiency 31",
            "description": "Combined oxidative phosphorylation deficiency 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111488"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111488",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111488",
            "categories": []
        },
        {
            "id": "MONDO:0014976",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014976",
            "categories": []
        },
        {
            "id": "MIM:617228",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617228",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B497-1",
            "uniprot_ac": "A0A8M2B497",
            "uniprot_id": "A0A8M2B497_DANRE",
            "refseq_ac": "XP_005157534",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial intermediate peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.59",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial intermediate peptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mipepa",
                    "type": "recommended"
                },
                {
                    "name": "mipepa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B497-1",
            "evidence": [
                {
                    "id": "0111488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QIA6-1",
            "uniprot_ac": "F1QIA6",
            "uniprot_id": "F1QIA6_DANRE",
            "refseq_ac": "XP_685496",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial intermediate peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.59",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial intermediate peptidase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mipepb",
                    "type": "recommended"
                },
                {
                    "name": "mipepb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QIA6-1",
            "evidence": [
                {
                    "id": "0111488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6H611-1",
            "uniprot_ac": "A6H611",
            "uniprot_id": "MIPEP_MOUSE",
            "refseq_ac": "NP_081712",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial intermediate peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.59",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial intermediate peptidase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mipep",
                    "type": "recommended"
                },
                {
                    "name": "5730405E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                },
                {
                    "name": "Mipep",
                    "type": "synonym"
                }
            ],
            "record_id": "A6H611-1",
            "evidence": [
                {
                    "id": "0111488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99797-1",
            "uniprot_ac": "Q99797",
            "uniprot_id": "MIPEP_HUMAN",
            "refseq_ac": "NP_005923",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial intermediate peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.59",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial intermediate peptidase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MIPEP",
                    "type": "recommended"
                },
                {
                    "name": "COXPD31",
                    "type": "synonym"
                },
                {
                    "name": "HMIP",
                    "type": "synonym"
                },
                {
                    "name": "MIPEP",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99797-1",
            "evidence": [
                {
                    "id": "617228",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617228"
                },
                {
                    "id": "0111488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35999-1",
            "uniprot_ac": "P35999",
            "uniprot_id": "PMIP_YEAST",
            "refseq_ac": "NP_012788",
            "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": "Mitochondrial intermediate peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.59",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                },
                {
                    "name": "metalloendopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OCT1",
                    "type": "recommended"
                },
                {
                    "name": "MIP1",
                    "type": "synonym"
                },
                {
                    "name": "OCT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35999-1",
            "evidence": [
                {
                    "id": "0111488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01992-1",
            "uniprot_ac": "Q01992",
            "uniprot_id": "MIPEP_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": "Mitochondrial intermediate peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.59",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mipep",
                    "type": "recommended"
                },
                {
                    "name": "Mip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01992-1",
            "evidence": [
                {
                    "id": "0111488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6H6-1",
            "uniprot_ac": "A1Z6H6",
            "uniprot_id": "A1Z6H6_DROME",
            "refseq_ac": "NP_610183",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase M3A/M3B catalytic domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7791-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mipep",
                    "type": "recommended"
                },
                {
                    "name": "CG7791",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7791",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7791",
                    "type": "synonym"
                },
                {
                    "name": "MIP",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6H6-1",
            "evidence": [
                {
                    "id": "0111488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111488"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111488"
}