{
    "disease_id": "DOID:0060949",
    "recommended_name": {
        "id": "DOID:0060949",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060949",
        "name": "3-hydroxyisobutryl-CoA hydrolase deficiency",
        "description": "An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060949",
            "name": "HIBCH deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060949",
            "name": "Methacrylic aciduria",
            "description": ""
        },
        {
            "id": "DOID:0060949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060949",
            "name": "Valine metabolic defect",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
            "description": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established."
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "HIBCH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "methacrylic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "Beta-hydroxyisobutyryl-CoA deacylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "name": "HIBCHD",
            "description": ""
        },
        {
            "id": "MIM:250620",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/250620",
            "name": "3-hydroxyisobutryl-CoA hydrolase deficiency",
            "description": "3-hydroxyisobutryl-CoA hydrolase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060949"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060949",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060949",
            "categories": []
        },
        {
            "id": "MONDO:0009603",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009603",
            "categories": []
        },
        {
            "id": "MIM:250620",
            "database": "MIM",
            "url": "https://www.omim.org/entry/250620",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q58EB4-1",
            "uniprot_ac": "Q58EB4",
            "uniprot_id": "HIBCH_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxyisobutyryl-coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "HIB-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "HIBYL-CoA-H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hibch",
                    "type": "recommended"
                },
                {
                    "name": "zgc:110824",
                    "type": "synonym"
                }
            ],
            "record_id": "Q58EB4-1",
            "evidence": [
                {
                    "id": "0060949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZS1-1",
            "uniprot_ac": "Q8QZS1",
            "uniprot_id": "HIBCH_MOUSE",
            "refseq_ac": "NP_666220",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "HIB-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "HIBYL-CoA-H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hibch",
                    "type": "recommended"
                },
                {
                    "name": "2610509I15Rik",
                    "type": "synonym"
                },
                {
                    "name": "HIBYL-COA-H",
                    "type": "synonym"
                },
                {
                    "name": "Hibch",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZS1-1",
            "evidence": [
                {
                    "id": "0060949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NVY1-1",
            "uniprot_ac": "Q6NVY1",
            "uniprot_id": "HIBCH_HUMAN",
            "refseq_ac": "NP_055177",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-Coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "HIB-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "HIBYL-CoA-H",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 86",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HIBCH",
                    "type": "recommended"
                },
                {
                    "name": "HIBCH",
                    "type": "synonym"
                },
                {
                    "name": "HIBYLCOAH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NVY1-1",
            "evidence": [
                {
                    "id": "250620",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/250620"
                },
                {
                    "id": "0060949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28817-1",
            "uniprot_ac": "P28817",
            "uniprot_id": "HIBCH_YEAST",
            "refseq_ac": "NP_010321",
            "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": "Small ribosomal subunit protein mS47",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "HIB-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "HIBYL-CoA-H",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 37S ribosomal protein mS47 EHD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EHD3",
                    "type": "recommended"
                },
                {
                    "name": "EHD3",
                    "type": "synonym"
                },
                {
                    "name": "MRP5",
                    "type": "synonym"
                },
                {
                    "name": "YD9673.08C",
                    "type": "synonym"
                },
                {
                    "name": "mS47",
                    "type": "synonym"
                }
            ],
            "record_id": "P28817-1",
            "evidence": [
                {
                    "id": "0060949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIE6-1",
            "uniprot_ac": "Q5XIE6",
            "uniprot_id": "HIBCH_RAT",
            "refseq_ac": "NP_001013130",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-Coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "HIB-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "HIBYL-CoA-H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hibch",
                    "type": "recommended"
                },
                {
                    "name": "Hibch",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIE6-1",
            "evidence": [
                {
                    "id": "0060949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86BP1-1",
            "uniprot_ac": "Q86BP1",
            "uniprot_id": "Q86BP1_DROME",
            "refseq_ac": "NP_732020",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxyisobutyryl-CoA hydrolase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyisobutyryl-coenzyme A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.4",
                    "type": "synonym"
                },
                {
                    "name": "CG5044-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hibch-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hibch",
                    "type": "recommended"
                },
                {
                    "name": "CG5044",
                    "type": "synonym"
                },
                {
                    "name": "CT16187",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5044",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5044",
                    "type": "synonym"
                },
                {
                    "name": "HIBCH",
                    "type": "synonym"
                },
                {
                    "name": "Hibch",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86BP1-1",
            "evidence": [
                {
                    "id": "0060949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060949"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060949"
}