{
    "disease_id": "DOID:0081134",
    "recommended_name": {
        "id": "DOID:0081134",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081134",
        "name": "3-methylglutaconic aciduria type 7b",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria, type VIIB",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "CLPB 3-methylglutaconic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "MEGCANN",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "MGA7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "MGCA7",
            "description": ""
        },
        {
            "id": "MONDO:0014561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "name": "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia",
            "description": ""
        },
        {
            "id": "MIM:616271",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616271",
            "name": "3-methylglutaconic aciduria 7B",
            "description": "3-methylglutaconic aciduria 7B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081134"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081134",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081134",
            "categories": []
        },
        {
            "id": "MONDO:0014561",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014561",
            "categories": []
        },
        {
            "id": "MIM:616271",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616271",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AT32-1",
            "uniprot_ac": "A0A8M3AT32",
            "uniprot_id": "A0A8M3AT32_DANRE",
            "refseq_ac": "XP_009290275",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial disaggregase",
                    "type": "recommended"
                },
                {
                    "name": "Suppressor of potassium transport defect 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial disaggregase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clpb",
                    "type": "recommended"
                },
                {
                    "name": "clpb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AT32-1",
            "evidence": [
                {
                    "id": "0081134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60649-1",
            "uniprot_ac": "Q60649",
            "uniprot_id": "CLPB_MOUSE",
            "refseq_ac": "NP_033217",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial disaggregase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ClpB caseinolytic peptidase B homolog",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of potassium transport defect 3",
                    "type": "synonym"
                },
                {
                    "name": "caseinolytic peptidase B protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial disaggregase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial disaggregase",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of K+ transport defect 3",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of potassium transport defect 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clpb",
                    "type": "recommended"
                },
                {
                    "name": "Clpb",
                    "type": "synonym"
                },
                {
                    "name": "Skd3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60649-1",
            "evidence": [
                {
                    "id": "0081134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H078-1",
            "uniprot_ac": "Q9H078",
            "uniprot_id": "CLPB_HUMAN",
            "refseq_ac": "NP_001245321",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial disaggregase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ClpB caseinolytic peptidase B homolog",
                    "type": "synonym"
                },
                {
                    "name": "ClpB homolog, mitochondrial AAA ATPase chaperonin",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of potassium transport defect 3",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-repeat containing bacterial clp fusion",
                    "type": "synonym"
                },
                {
                    "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit B",
                    "type": "synonym"
                },
                {
                    "name": "caseinolytic peptidase B protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial disaggregase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial disaggregase",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of potassium transport defect 3",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLPB",
                    "type": "recommended"
                },
                {
                    "name": "ANKCLB",
                    "type": "synonym"
                },
                {
                    "name": "ANKCLP",
                    "type": "synonym"
                },
                {
                    "name": "CLPB",
                    "type": "synonym"
                },
                {
                    "name": "HSP78",
                    "type": "synonym"
                },
                {
                    "name": "MEGCANN",
                    "type": "synonym"
                },
                {
                    "name": "MGCA7A",
                    "type": "synonym"
                },
                {
                    "name": "MGCA7",
                    "type": "synonym"
                },
                {
                    "name": "SCN9",
                    "type": "synonym"
                },
                {
                    "name": "SKD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H078-1",
            "evidence": [
                {
                    "id": "616271",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616271"
                },
                {
                    "id": "0081134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31539-1",
            "uniprot_ac": "P31539",
            "uniprot_id": "HS104_YEAST",
            "refseq_ac": "NP_013074",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein 104",
                    "type": "recommended"
                },
                {
                    "name": "Protein aggregation-remodeling factor HSP104",
                    "type": "synonym"
                },
                {
                    "name": "chaperone ATPase HSP104",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSP104",
                    "type": "recommended"
                },
                {
                    "name": "HSP104",
                    "type": "synonym"
                },
                {
                    "name": "L0948",
                    "type": "synonym"
                }
            ],
            "record_id": "P31539-1",
            "evidence": [
                {
                    "id": "0081134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33416-1",
            "uniprot_ac": "P33416",
            "uniprot_id": "HSP78_YEAST",
            "refseq_ac": "NP_010544",
            "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": "Heat shock protein 78, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "chaperone ATPase HSP78",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSP78",
                    "type": "recommended"
                },
                {
                    "name": "HSP78",
                    "type": "synonym"
                },
                {
                    "name": "YD9320A.08C",
                    "type": "synonym"
                }
            ],
            "record_id": "P33416-1",
            "evidence": [
                {
                    "id": "0081134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTT2-1",
            "uniprot_ac": "Q9WTT2",
            "uniprot_id": "CLPB_RAT",
            "refseq_ac": "NP_075236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial disaggregase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ClpB caseinolytic peptidase B homolog",
                    "type": "synonym"
                },
                {
                    "name": "ClpB homolog, mitochondrial AAA ATPase chaperonin",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of potassium transport defect 3",
                    "type": "synonym"
                },
                {
                    "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit B",
                    "type": "synonym"
                },
                {
                    "name": "caseinolytic peptidase B protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial disaggregase",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of K+ transport defect 3",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of potassium transport defect 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clpb",
                    "type": "recommended"
                },
                {
                    "name": "Clpb",
                    "type": "synonym"
                },
                {
                    "name": "Skd3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTT2-1",
            "evidence": [
                {
                    "id": "0081134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081134"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081134"
}