{
    "disease_id": "DOID:0070540",
    "recommended_name": {
        "id": "DOID:0070540",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070540",
        "name": "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency",
        "description": "A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070540",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070540",
            "name": "ECHS1D",
            "description": ""
        },
        {
            "id": "MONDO:0014563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014563",
            "name": "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014563",
            "name": "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014563",
            "name": "ECHS1D",
            "description": ""
        },
        {
            "id": "MONDO:0014563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014563",
            "name": "short-chain enoyl-CoA hydratase deficiency",
            "description": ""
        },
        {
            "id": "MIM:616277",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616277",
            "name": "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency",
            "description": "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070540"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070540",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070540",
            "categories": []
        },
        {
            "id": "MONDO:0014563",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014563",
            "categories": []
        },
        {
            "id": "MIM:616277",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616277",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZZ04-1",
            "uniprot_ac": "Q7ZZ04",
            "uniprot_id": "Q7ZZ04_DANRE",
            "refseq_ac": "NP_001004529",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-CoA hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.17",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.8",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl-CoA hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "Short-chain enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "enoyl Coenzyme A hydratase, short chain, 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "echs1",
                    "type": "recommended"
                },
                {
                    "name": "echs1",
                    "type": "synonym"
                },
                {
                    "name": "fj55e05",
                    "type": "synonym"
                },
                {
                    "name": "si:zc217g15.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj55e05",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZZ04-1",
            "evidence": [
                {
                    "id": "0070540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH95-1",
            "uniprot_ac": "Q8BH95",
            "uniprot_id": "ECHM_MOUSE",
            "refseq_ac": "NP_444349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-CoA hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.17",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.8",
                    "type": "synonym"
                },
                {
                    "name": "ECHS1",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl-CoA hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "SCEH",
                    "type": "synonym"
                },
                {
                    "name": "Short-chain enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mECH1",
                    "type": "synonym"
                },
                {
                    "name": "mECH",
                    "type": "synonym"
                },
                {
                    "name": "short-chain enoyl-CoA hydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Echs1",
                    "type": "recommended"
                },
                {
                    "name": "Echs1",
                    "type": "synonym"
                },
                {
                    "name": "SCEH",
                    "type": "synonym"
                },
                {
                    "name": "mECH1",
                    "type": "synonym"
                },
                {
                    "name": "mECH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH95-1",
            "evidence": [
                {
                    "id": "0070540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30084-1",
            "uniprot_ac": "P30084",
            "uniprot_id": "ECHM_HUMAN",
            "refseq_ac": "NP_004083",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-CoA hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.17",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.8",
                    "type": "synonym"
                },
                {
                    "name": "ECHS1",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl-CoA hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "SCEH",
                    "type": "synonym"
                },
                {
                    "name": "Short-chain enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "enoyl Coenzyme A hydratase, short chain, 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, short chain, 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mECH1",
                    "type": "synonym"
                },
                {
                    "name": "mECH",
                    "type": "synonym"
                },
                {
                    "name": "short chain enoyl-CoA hydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ECHS1",
                    "type": "recommended"
                },
                {
                    "name": "ECHS1D",
                    "type": "synonym"
                },
                {
                    "name": "ECHS1",
                    "type": "synonym"
                },
                {
                    "name": "SCEH",
                    "type": "synonym"
                },
                {
                    "name": "mECH1",
                    "type": "synonym"
                },
                {
                    "name": "mECH",
                    "type": "synonym"
                }
            ],
            "record_id": "P30084-1",
            "evidence": [
                {
                    "id": "616277",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616277"
                },
                {
                    "id": "0070540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14604-1",
            "uniprot_ac": "P14604",
            "uniprot_id": "ECHM_RAT",
            "refseq_ac": "NP_511178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-CoA hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.17",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.8",
                    "type": "synonym"
                },
                {
                    "name": "ECHS1",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl-CoA hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl-CoA hydratase, short chain 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "SCEH",
                    "type": "synonym"
                },
                {
                    "name": "Short-chain enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "enoyl CoA hydratase, short chain, 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "enoyl Coenzyme A hydratase, short chain 1",
                    "type": "synonym"
                },
                {
                    "name": "enoyl Coenzyme A hydratase, short chain, 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mECH1",
                    "type": "synonym"
                },
                {
                    "name": "mECH",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial short-chain enoyl-coenzyme A hydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "short-chain enoyl-CoA hydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Echs1",
                    "type": "recommended"
                },
                {
                    "name": "Echs1",
                    "type": "synonym"
                },
                {
                    "name": "mECH1",
                    "type": "synonym"
                },
                {
                    "name": "mECH",
                    "type": "synonym"
                }
            ],
            "record_id": "P14604-1",
            "evidence": [
                {
                    "id": "0070540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06880-1",
            "uniprot_ac": "Q06880",
            "uniprot_id": "NBL1_RAT",
            "refseq_ac": "NP_113797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuroblastoma suppressor of tumorigenicity 1",
                    "type": "recommended"
                },
                {
                    "name": "N03",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma, suppression of tumorigenicity 1 (DNA segment human D1S1733E)",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein DAN",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma 1, DAN family BMP antagonist",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma suppressor of tumorigenicity 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma suppressor of tumorigenicity 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DAN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nbl1",
                    "type": "recommended"
                },
                {
                    "name": "Dan",
                    "type": "synonym"
                },
                {
                    "name": "Nbl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06880-1",
            "evidence": [
                {
                    "id": "0070540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070540"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070540"
}