{
    "disease_id": "DOID:0081428",
    "recommended_name": {
        "id": "DOID:0081428",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081428",
        "name": "autosomal recessive distal hereditary motor neuronopathy 9",
        "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0957874",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957874",
            "name": "neuronopathy, distal hereditary motor, autosomal recessive 9",
            "description": ""
        },
        {
            "id": "MIM:620402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620402",
            "name": "Neuronopathy, distal hereditary motor, autosomal recessive 9",
            "description": "Neuronopathy, distal hereditary motor, autosomal recessive 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081428"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081428",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081428",
            "categories": []
        },
        {
            "id": "MONDO:0957874",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957874",
            "categories": []
        },
        {
            "id": "MIM:620402",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620402",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97478-1",
            "uniprot_ac": "P97478",
            "uniprot_id": "COQ7_MOUSE",
            "refseq_ac": "NP_034070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.253",
                    "type": "synonym"
                },
                {
                    "name": "3-demethoxyubiquinone 3-hydroxylase (NADH)",
                    "type": "synonym"
                },
                {
                    "name": "5-demethoxyubiquinone hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "DMQ hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq7",
                    "type": "recommended"
                },
                {
                    "name": "COQ7",
                    "type": "synonym"
                },
                {
                    "name": "Coq7",
                    "type": "synonym"
                },
                {
                    "name": "clk-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97478-1",
            "evidence": [
                {
                    "id": "0081428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99807-1",
            "uniprot_ac": "Q99807",
            "uniprot_id": "COQ7_HUMAN",
            "refseq_ac": "NP_001177912",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.253",
                    "type": "synonym"
                },
                {
                    "name": "3-demethoxyubiquinone 3-hydroxylase (NADH)",
                    "type": "synonym"
                },
                {
                    "name": "5-demethoxyubiquinone hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "COQ7 coenzyme Q, 7 homolog ubiquinone",
                    "type": "synonym"
                },
                {
                    "name": "DMQ hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q7 homolog, ubiquinone",
                    "type": "synonym"
                },
                {
                    "name": "placental protein KG-20",
                    "type": "synonym"
                },
                {
                    "name": "timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ7",
                    "type": "recommended"
                },
                {
                    "name": "CAT5",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D8",
                    "type": "synonym"
                },
                {
                    "name": "COQ7",
                    "type": "synonym"
                },
                {
                    "name": "HMNR9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99807-1",
            "evidence": [
                {
                    "id": "620402",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620402"
                },
                {
                    "id": "0081428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41735-1",
            "uniprot_ac": "P41735",
            "uniprot_id": "COQ7_YEAST",
            "refseq_ac": "NP_014768",
            "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": "5-demethoxyubiquinone hydroxylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.253",
                    "type": "synonym"
                },
                {
                    "name": "1.14.99.60",
                    "type": "synonym"
                },
                {
                    "name": "Catabolite repression protein 5",
                    "type": "synonym"
                },
                {
                    "name": "DMQ hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "putative monooxygenase CAT5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAT5",
                    "type": "recommended"
                },
                {
                    "name": "CAT5",
                    "type": "synonym"
                },
                {
                    "name": "COQ7",
                    "type": "synonym"
                },
                {
                    "name": "O3284",
                    "type": "synonym"
                },
                {
                    "name": "YOR3284C",
                    "type": "synonym"
                }
            ],
            "record_id": "P41735-1",
            "evidence": [
                {
                    "id": "0081428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63619-1",
            "uniprot_ac": "Q63619",
            "uniprot_id": "COQ7_RAT",
            "refseq_ac": "NP_036917",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.253",
                    "type": "synonym"
                },
                {
                    "name": "3-demethoxyubiquinone 3-hydroxylase (NADH)",
                    "type": "synonym"
                },
                {
                    "name": "5-demethoxyubiquinone hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme q (ubiquinone) biosynthetic enzyme (DHPB methyltransferase) 7",
                    "type": "synonym"
                },
                {
                    "name": "DMQ hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q7 homolog, ubiquinone",
                    "type": "synonym"
                },
                {
                    "name": "demethyl-Q 7",
                    "type": "synonym"
                },
                {
                    "name": "timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq7",
                    "type": "recommended"
                },
                {
                    "name": "Coq7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63619-1",
            "evidence": [
                {
                    "id": "0081428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54282-1",
            "uniprot_ac": "P54282",
            "uniprot_id": "CAC1A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A",
                    "type": "recommended"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel I",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "RBA-I",
                    "type": "synonym"
                },
                {
                    "name": "Rat brain class A",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1a",
                    "type": "recommended"
                },
                {
                    "name": "Cach4",
                    "type": "synonym"
                },
                {
                    "name": "Cacn3",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a4",
                    "type": "synonym"
                }
            ],
            "record_id": "P54282-1",
            "evidence": [
                {
                    "id": "0081428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3W4-1",
            "uniprot_ac": "Q9W3W4",
            "uniprot_id": "Q9W3W4_DROME",
            "refseq_ac": "NP_651967",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-demethoxyubiquinone hydroxylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.99.60",
                    "type": "synonym"
                },
                {
                    "name": "CG14437-PA",
                    "type": "synonym"
                },
                {
                    "name": "COQ7",
                    "type": "synonym"
                },
                {
                    "name": "Coq7-PA",
                    "type": "synonym"
                },
                {
                    "name": "DMQ hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq7",
                    "type": "recommended"
                },
                {
                    "name": "CG14437",
                    "type": "synonym"
                },
                {
                    "name": "COQ7",
                    "type": "synonym"
                },
                {
                    "name": "Coq7",
                    "type": "synonym"
                },
                {
                    "name": "Dclk1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14437",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14437",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3W4-1",
            "evidence": [
                {
                    "id": "0081428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081428"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081428"
}