{
    "disease_id": "DOID:0070332",
    "recommended_name": {
        "id": "DOID:0070332",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070332",
        "name": "multiple mitochondrial dysfunctions syndrome 6",
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0054785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054785",
            "name": "multiple mitochondrial dysfunctions syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0054785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054785",
            "name": "MMDS6",
            "description": ""
        },
        {
            "id": "MONDO:0054785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054785",
            "name": "PMPCB deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0054785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054785",
            "name": "multiple mitochondrial dysfunctions syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0054785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054785",
            "name": "multiple mitochondrial dysfunctions syndrome type 6",
            "description": ""
        },
        {
            "id": "MIM:617954",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617954",
            "name": "Multiple mitochondrial dysfunctions syndrome 6",
            "description": "Multiple mitochondrial dysfunctions syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070332"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070332",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070332",
            "categories": []
        },
        {
            "id": "MONDO:0054785",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054785",
            "categories": []
        },
        {
            "id": "MIM:617954",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617954",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CXT8-1",
            "uniprot_ac": "Q9CXT8",
            "uniprot_id": "MPPB_MOUSE",
            "refseq_ac": "NP_082707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.64",
                    "type": "synonym"
                },
                {
                    "name": "Beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "P-52",
                    "type": "synonym"
                },
                {
                    "name": "beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmpcb",
                    "type": "recommended"
                },
                {
                    "name": "3110004O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "MPP11",
                    "type": "synonym"
                },
                {
                    "name": "MPPB",
                    "type": "synonym"
                },
                {
                    "name": "MPPP52",
                    "type": "synonym"
                },
                {
                    "name": "Pmpcb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXT8-1",
            "evidence": [
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZ13-1",
            "uniprot_ac": "Q9CZ13",
            "uniprot_id": "QCR1_MOUSE",
            "refseq_ac": "NP_079683",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Core protein I",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 1",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "core protein I",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrc1",
                    "type": "recommended"
                },
                {
                    "name": "1110032G10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Uqcrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZ13-1",
            "evidence": [
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75439-1",
            "uniprot_ac": "O75439",
            "uniprot_id": "MPPB_HUMAN",
            "refseq_ac": "NP_004270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.64",
                    "type": "synonym"
                },
                {
                    "name": "Beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "P-52",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial processing peptidase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "peptidase (mitochondrial processing) beta",
                    "type": "synonym"
                },
                {
                    "name": "peptidase, mitochondrial processing beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMPCB",
                    "type": "recommended"
                },
                {
                    "name": "Beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "MAS1",
                    "type": "synonym"
                },
                {
                    "name": "MPP11",
                    "type": "synonym"
                },
                {
                    "name": "MPPB",
                    "type": "synonym"
                },
                {
                    "name": "MPPP52",
                    "type": "synonym"
                },
                {
                    "name": "P-52",
                    "type": "synonym"
                },
                {
                    "name": "PMPCB",
                    "type": "synonym"
                }
            ],
            "record_id": "O75439-1",
            "evidence": [
                {
                    "id": "617954",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617954"
                },
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10507-1",
            "uniprot_ac": "P10507",
            "uniprot_id": "MPPB_YEAST",
            "refseq_ac": "NP_013264",
            "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-processing peptidase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.64",
                    "type": "synonym"
                },
                {
                    "name": "Beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial assembly protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PEP",
                    "type": "synonym"
                },
                {
                    "name": "Processing enhancing protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial processing peptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAS1",
                    "type": "recommended"
                },
                {
                    "name": "L9632.10",
                    "type": "synonym"
                },
                {
                    "name": "MAS1",
                    "type": "synonym"
                },
                {
                    "name": "MIF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P10507-1",
            "evidence": [
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03346-1",
            "uniprot_ac": "Q03346",
            "uniprot_id": "MPPB_RAT",
            "refseq_ac": "NP_071790",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.64",
                    "type": "synonym"
                },
                {
                    "name": "Beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "P-52",
                    "type": "synonym"
                },
                {
                    "name": "beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial processing peptidase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "peptidase (mitochondrial processing) beta",
                    "type": "synonym"
                },
                {
                    "name": "peptidase, mitochondrial processing beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmpcb",
                    "type": "recommended"
                },
                {
                    "name": "Mppb",
                    "type": "synonym"
                },
                {
                    "name": "Pmpcb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03346-1",
            "evidence": [
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FY0-1",
            "uniprot_ac": "Q68FY0",
            "uniprot_id": "QCR1_RAT",
            "refseq_ac": "NP_001004250",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Core protein I",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 1",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "core protein I",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein I",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrc1",
                    "type": "recommended"
                },
                {
                    "name": "Uqcrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FY0-1",
            "evidence": [
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFF0-1",
            "uniprot_ac": "Q9VFF0",
            "uniprot_id": "Q9VFF0_DROME",
            "refseq_ac": "NP_650401",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.64",
                    "type": "synonym"
                },
                {
                    "name": "Beta-MPP",
                    "type": "synonym"
                },
                {
                    "name": "CG3731-PB",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-C1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome C reductase complex core protein I",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase core protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial processing peptidase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing protease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCR-C1",
                    "type": "recommended"
                },
                {
                    "name": "CG 3731",
                    "type": "synonym"
                },
                {
                    "name": "CG3731",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3731",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3731",
                    "type": "synonym"
                },
                {
                    "name": "MPPB",
                    "type": "synonym"
                },
                {
                    "name": "Mpp",
                    "type": "synonym"
                },
                {
                    "name": "UCR1",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-C1",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-cp1",
                    "type": "synonym"
                },
                {
                    "name": "uqcrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFF0-1",
            "evidence": [
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31930-1",
            "uniprot_ac": "P31930",
            "uniprot_id": "QCR1_HUMAN",
            "refseq_ac": "NP_003356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Core protein I",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 1",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "core protein I",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein I",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCRC1",
                    "type": "recommended"
                },
                {
                    "name": "D3S3191",
                    "type": "synonym"
                },
                {
                    "name": "PKNPY",
                    "type": "synonym"
                },
                {
                    "name": "QCR1",
                    "type": "synonym"
                },
                {
                    "name": "UQCR1",
                    "type": "synonym"
                },
                {
                    "name": "UQCRC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P31930-1",
            "evidence": [
                {
                    "id": "0070332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070332"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070332"
}