{
    "disease_id": "DOID:0070465",
    "recommended_name": {
        "id": "DOID:0070465",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070465",
        "name": "autosomal recessive spinocerebellar ataxia with axonal neuropathy 3",
        "description": "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070465",
            "name": "spinocerebellar ataxia with axonal neuropathy 3",
            "description": ""
        },
        {
            "id": "DOID:0070465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070465",
            "name": "SCAN3",
            "description": ""
        },
        {
            "id": "DOID:0070465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070465",
            "name": "spinocerebellar ataxia with axonal neuropathy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0020770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020770",
            "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3",
            "description": ""
        },
        {
            "id": "MONDO:0020770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020770",
            "name": "SCAN3",
            "description": ""
        },
        {
            "id": "MIM:618387",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618387",
            "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3",
            "description": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070465"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070465",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070465",
            "categories": []
        },
        {
            "id": "MONDO:0020770",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020770",
            "categories": []
        },
        {
            "id": "MIM:618387",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618387",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5TYQ3-1",
            "uniprot_ac": "Q5TYQ3",
            "uniprot_id": "COA7_DANRE",
            "refseq_ac": "NP_001025255",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 7",
                    "type": "recommended"
                },
                {
                    "name": "Beta-lactamase hcp-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sel1 repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "Sel1 repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-lactamase hcp-like protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 7",
                    "type": "synonym"
                },
                {
                    "name": "hcp beta-lactamase-like protein C1orf163 homolog",
                    "type": "synonym"
                },
                {
                    "name": "sel1 repeat-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coa7",
                    "type": "recommended"
                },
                {
                    "name": "coa7",
                    "type": "synonym"
                },
                {
                    "name": "selrc1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-11m18.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136252",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TYQ3-1",
            "evidence": [
                {
                    "id": "0070465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921H9-1",
            "uniprot_ac": "Q921H9",
            "uniprot_id": "COA7_MOUSE",
            "refseq_ac": "NP_081526",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 7",
                    "type": "recommended"
                },
                {
                    "name": "Beta-lactamase hcp-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Respiratory chain assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Sel1 repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "Sel1 repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-lactamase hcp-like protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 7",
                    "type": "synonym"
                },
                {
                    "name": "hcp beta-lactamase-like protein C1orf163 homolog",
                    "type": "synonym"
                },
                {
                    "name": "respiratory chain assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "sel1 repeat-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa7",
                    "type": "recommended"
                },
                {
                    "name": "2010305A19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Coa7",
                    "type": "synonym"
                },
                {
                    "name": "D4Ertd796e",
                    "type": "synonym"
                },
                {
                    "name": "Selrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921H9-1",
            "evidence": [
                {
                    "id": "0070465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96BR5-1",
            "uniprot_ac": "Q96BR5",
            "uniprot_id": "COA7_HUMAN",
            "refseq_ac": "NP_075565",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 7",
                    "type": "recommended"
                },
                {
                    "name": "Beta-lactamase hcp-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Respiratory chain assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Sel1 repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "Sel1 repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-lactamase hcp-like protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 7 (putative)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 7",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hcp beta-lactamase-like protein C1orf163",
                    "type": "synonym"
                },
                {
                    "name": "respiratory chain assembly 1",
                    "type": "synonym"
                },
                {
                    "name": "respiratory chain assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "sel1 repeat-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COA7",
                    "type": "recommended"
                },
                {
                    "name": "C1orf163",
                    "type": "synonym"
                },
                {
                    "name": "COA7",
                    "type": "synonym"
                },
                {
                    "name": "RESA1",
                    "type": "synonym"
                },
                {
                    "name": "SCAN3",
                    "type": "synonym"
                },
                {
                    "name": "SELRC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96BR5-1",
            "evidence": [
                {
                    "id": "618387",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618387"
                },
                {
                    "id": "0070465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AC65-1",
            "uniprot_ac": "D4AC65",
            "uniprot_id": "D4AC65_RAT",
            "refseq_ac": "NP_001100144",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 7",
                    "type": "recommended"
                },
                {
                    "name": "Sel1 repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "sel1 repeat-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa7",
                    "type": "recommended"
                },
                {
                    "name": "Coa7",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305274",
                    "type": "synonym"
                },
                {
                    "name": "Selrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AC65-1",
            "evidence": [
                {
                    "id": "0070465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W5N0-1",
            "uniprot_ac": "Q9W5N0",
            "uniprot_id": "COA7_DROME",
            "refseq_ac": "NP_001036323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 7 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Beta-lactamase hcp-like protein CG13865",
                    "type": "synonym"
                },
                {
                    "name": "CG13865-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coa7-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sel1 repeat-containing protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 7, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa7",
                    "type": "recommended"
                },
                {
                    "name": "CG13865",
                    "type": "synonym"
                },
                {
                    "name": "CG40301",
                    "type": "synonym"
                },
                {
                    "name": "COA7",
                    "type": "synonym"
                },
                {
                    "name": "Coa7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13865",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13865",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0039965",
                    "type": "synonym"
                },
                {
                    "name": "dCOA7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W5N0-1",
            "evidence": [
                {
                    "id": "0070465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070465"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070465"
}