{
    "disease_id": "DOID:0111335",
    "recommended_name": {
        "id": "DOID:0111335",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111335",
        "name": "myopathy with extrapyramidal signs",
        "description": "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111335",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111335",
            "name": "MPXPS",
            "description": ""
        },
        {
            "id": "DOID:0111335",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111335",
            "name": "proximal myopathy with extrapyramidal signs",
            "description": ""
        },
        {
            "id": "MONDO:0014300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "name": "proximal myopathy with extrapyramidal signs",
            "description": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy."
        },
        {
            "id": "MONDO:0014300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "name": "MPXPS",
            "description": ""
        },
        {
            "id": "MONDO:0014300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "name": "myopathy with extrapyramidal signs",
            "description": ""
        },
        {
            "id": "MIM:615673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615673",
            "name": "Myopathy with extrapyramidal signs",
            "description": "Myopathy with extrapyramidal signs"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111335"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111335",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111335",
            "categories": []
        },
        {
            "id": "MONDO:0014300",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "categories": []
        },
        {
            "id": "MIM:615673",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615673",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A4IG32-1",
            "uniprot_ac": "A4IG32",
            "uniprot_id": "MICU1_DANRE",
            "refseq_ac": "NP_001077302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium uptake protein 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-binding atopy-related autoantigen 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "calcium uptake protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding atopy-related autoantigen 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "micu1",
                    "type": "recommended"
                },
                {
                    "name": "cbara1",
                    "type": "synonym"
                },
                {
                    "name": "micu1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-199i24.4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162148",
                    "type": "synonym"
                }
            ],
            "record_id": "A4IG32-1",
            "evidence": [
                {
                    "id": "0111335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCX5-1",
            "uniprot_ac": "Q8VCX5",
            "uniprot_id": "MICU1_MOUSE",
            "refseq_ac": "NP_001278371",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium uptake protein 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-binding atopy-related autoantigen 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding atopy-related autoantigen 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium uptake protein 1, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium uptake protein 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Micu1",
                    "type": "recommended"
                },
                {
                    "name": "C730016L05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Calc",
                    "type": "synonym"
                },
                {
                    "name": "Cbara1",
                    "type": "synonym"
                },
                {
                    "name": "Micu1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCX5-1",
            "evidence": [
                {
                    "id": "0111335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BPX6-1",
            "uniprot_ac": "Q9BPX6",
            "uniprot_id": "MICU1_HUMAN",
            "refseq_ac": "NP_001182447",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium uptake protein 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Atopy-related autoantigen CALC",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-binding atopy-related autoantigen 1",
                    "type": "synonym"
                },
                {
                    "name": "ara CALC",
                    "type": "synonym"
                },
                {
                    "name": "atopy-related autoantigen CALC",
                    "type": "synonym"
                },
                {
                    "name": "calcium uptake protein 1, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium uptake protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding atopy-related autoantigen 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MICU1",
                    "type": "recommended"
                },
                {
                    "name": "CALC",
                    "type": "synonym"
                },
                {
                    "name": "CBARA1",
                    "type": "synonym"
                },
                {
                    "name": "EFHA3",
                    "type": "synonym"
                },
                {
                    "name": "MICU1",
                    "type": "synonym"
                },
                {
                    "name": "MPXPS",
                    "type": "synonym"
                },
                {
                    "name": "ara CALC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BPX6-1",
            "evidence": [
                {
                    "id": "615673",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615673"
                },
                {
                    "id": "0111335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P6Q9-1",
            "uniprot_ac": "Q6P6Q9",
            "uniprot_id": "MICU1_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": "Calcium uptake protein 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-binding atopy-related autoantigen 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Micu1",
                    "type": "recommended"
                },
                {
                    "name": "Cbara1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P6Q9-1",
            "evidence": [
                {
                    "id": "0111335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2VEI2-1",
            "uniprot_ac": "A2VEI2",
            "uniprot_id": "MICU1_DROME",
            "refseq_ac": "NP_001097110",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium uptake protein 1 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG4495-PB",
                    "type": "synonym"
                },
                {
                    "name": "MICU1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial calcium uptake 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial calcium uptake 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MICU1",
                    "type": "recommended"
                },
                {
                    "name": "CG4495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4495",
                    "type": "synonym"
                },
                {
                    "name": "MICU1",
                    "type": "synonym"
                },
                {
                    "name": "micu1",
                    "type": "synonym"
                }
            ],
            "record_id": "A2VEI2-1",
            "evidence": [
                {
                    "id": "0111335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111335"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111335"
}