{ "disease_id": "DOID:0070242", "recommended_name": { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070242", "name": "primary coenzyme Q10 deficiency 5", "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21." }, "synonyms": [ { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070242", "name": "COQ10D5", "description": "" }, { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070242", "name": "coenzyme Q10 deficiency, primary, 5", "description": "" }, { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070242", "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "description": "" }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "description": "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "coenzyme Q10 deficiency, primary, type 5", "description": "" }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "COQ10D5", "description": "" }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "coenzyme Q10 deficiency, primary, 5", "description": "" }, { "id": "MIM:614654", "resource": "MIM", "url": "https://www.omim.org/entry/614654", "name": "Coenzyme Q10 deficiency, primary, 5", "description": "Coenzyme Q10 deficiency, primary, 5" } ], "children": [], "id_list": [ "DOID:0070242" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0070242", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070242", "categories": [] }, { "id": "MONDO:0013840", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "categories": [] }, { "id": "MIM:614654", "database": "MIM", "url": "https://www.omim.org/entry/614654", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q8K1Z0-1", "uniprot_ac": "Q8K1Z0", "uniprot_id": "COQ9_MOUSE", "refseq_ac": "NP_080728", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "coenzyme Q9 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq9", "type": "recommended" }, { "name": "2310005O14Rik", "type": "synonym" }, { "name": "Coq9", "type": "synonym" } ], "record_id": "Q8K1Z0-1", "evidence": [ { "id": "0070242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070242" } ] }, { "uniprot_canonical_ac": "O75208-1", "uniprot_ac": "O75208", "uniprot_id": "COQ9_HUMAN", "refseq_ac": "NP_064708", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "coenzyme Q9 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "COQ9", "type": "recommended" }, { "name": "C16orf49", "type": "synonym" }, { "name": "COQ10D5", "type": "synonym" }, { "name": "COQ9", "type": "synonym" }, { "name": "HSPC326", "type": "synonym" }, { "name": "PSEC0129", "type": "synonym" } ], "record_id": "O75208-1", "evidence": [ { "id": "614654", "database": "MIM", "url": "https://www.omim.org/entry/614654" }, { "id": "0070242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070242" } ] }, { "uniprot_canonical_ac": "Q05779-1", "uniprot_ac": "Q05779", "uniprot_id": "COQ9_YEAST", "refseq_ac": "NP_013302", "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": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "ubiquinone biosynthesis protein COQ9", "type": "synonym" } ], "gene_names": [ { "name": "COQ9", "type": "recommended" }, { "name": "COQ9", "type": "synonym" } ], "record_id": "Q05779-1", "evidence": [ { "id": "0070242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070242" } ] }, { "uniprot_canonical_ac": "Q68FT1-1", "uniprot_ac": "Q68FT1", "uniprot_id": "COQ9_RAT", "refseq_ac": "NP_001030334", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "coenzyme Q9 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq9", "type": "recommended" }, { "name": "Coq9", "type": "synonym" } ], "record_id": "Q68FT1-1", "evidence": [ { "id": "0070242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070242" } ] }, { "uniprot_canonical_ac": "Q8MKN0-1", "uniprot_ac": "Q8MKN0", "uniprot_id": "COQ9_DROME", "refseq_ac": "NP_724594", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "CG30493-PB", "type": "synonym" }, { "name": "Coq9-PB", "type": "synonym" }, { "name": "coenzyme Q9", "type": "synonym" } ], "gene_names": [ { "name": "Coq9", "type": "recommended" }, { "name": "CG1952", "type": "synonym" }, { "name": "CG30493", "type": "synonym" }, { "name": "Coq9", "type": "synonym" }, { "name": "Dmel\\CG30493", "type": "synonym" } ], "record_id": "Q8MKN0-1", "evidence": [ { "id": "0070242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070242" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0070242" }