{
  "id": 18296,
  "label": "coenzyme Q10 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018151",
  "properties": {
    "xrefs": [
      "DOID:0050730",
      "GARD:0010423",
      "MEDGEN:334528",
      "MESH:C564403",
      "NCIT:C142083",
      "OMIMPS:607426",
      "Orphanet:35656",
      "SCTID:724575009",
      "UMLS:C1843920",
      "icd11.foundation:1251664337"
    ],
    "synonyms": [
      "CoQ10 deficiency",
      "coenzyme Q10 deficiency disease",
      "coenzyme Q10 deficiency, primary",
      "CoQ10 deficiency, primary"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 12910,
      "label": "coenzyme Q10 deficiency, primary, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070238",
          "GARD:0018378",
          "MEDGEN:764868",
          "OMIM:607426",
          "UMLS:C3551954"
        ],
        "synonyms": [
          "COQ2 coenzyme Q10 deficiency",
          "coenzyme Q10 deficiency caused by mutation in COQ2",
          "coenzyme Q10 deficiency, primary, 1",
          "coenzyme Q10 deficiency, primary, type 1",
          "COQ10D1",
          "CoQ deficiency 1",
          "Coq10 deficiency, primary, 1",
          "coenzyme Q deficiency 1",
          "ubiquinone deficiency 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011829"
    },
    {
      "id": 13824,
      "label": "autosomal recessive ataxia due to ubiquinone deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133,
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070241",
          "GARD:0010294",
          "MEDGEN:436985",
          "MESH:C567436",
          "OMIM:612016",
          "Orphanet:139485",
          "SCTID:725394006",
          "UMLS:C2677589"
        ],
        "synonyms": [
          "ARCA2",
          "SCAR9",
          "autosomal recessive ataxia due to coenzyme Q10 deficiency",
          "autosomal recessive cerebellar ataxia type 2",
          "autosomal recessive spinocerebellar ataxia type 9",
          "coenzyme Q10 deficiency, primary, type 4",
          "COQ10D4",
          "autosomal recessive spinocerebellar ataxia 9",
          "coenzyme Q10 deficiency, primary, 4",
          "spinocerebellar ataxia, autosomal recessive 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012784"
    },
    {
      "id": 14850,
      "label": "familial steroid-resistant nephrotic syndrome with sensorineural deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296,
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070243",
          "GARD:0017295",
          "MEDGEN:766263",
          "OMIM:614650",
          "Orphanet:280406",
          "UMLS:C3553349"
        ],
        "synonyms": [
          "coenzyme Q10 deficiency, primary, type 6",
          "COQ10D6",
          "coenzyme Q10 deficiency, primary, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013836"
    },
    {
      "id": 14851,
      "label": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070239",
          "GARD:0017230",
          "MEDGEN:766268",
          "OMIM:614651",
          "Orphanet:254898",
          "UMLS:C3553354"
        ],
        "synonyms": [
          "coenzyme Q10 deficiency, primary, type 2",
          "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome",
          "COQ10D2",
          "coenzyme Q10 deficiency, primary, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013837"
    },
    {
      "id": 14852,
      "label": "coenzyme Q10 deficiency, primary, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070240",
          "GARD:0018379",
          "MEDGEN:766272",
          "OMIM:614652",
          "UMLS:C3553358"
        ],
        "synonyms": [
          "PDSS2 coenzyme Q10 deficiency",
          "coenzyme Q10 deficiency caused by mutation in PDSS2",
          "coenzyme Q10 deficiency, primary, 3",
          "coenzyme Q10 deficiency, primary, type 3",
          "COQ10D3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013838"
    },
    {
      "id": 14854,
      "label": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070242",
          "GARD:0017470",
          "MEDGEN:766288",
          "OMIM:614654",
          "Orphanet:319678",
          "UMLS:C3553374"
        ],
        "synonyms": [
          "coenzyme Q10 deficiency, primary, type 5",
          "COQ10D5",
          "coenzyme Q10 deficiency, primary, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013840"
    },
    {
      "id": 15560,
      "label": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070244",
          "GARD:0017796",
          "MEDGEN:1799985",
          "OMIM:616276",
          "Orphanet:457185",
          "UMLS:C5568562"
        ],
        "synonyms": [
          "COQ4-related neonatal encephalomyopathy",
          "coenzyme Q10 deficiency, primary, type 7",
          "COQ10D7",
          "coenzyme Q10 deficiency, primary, 7",
          "primary coenzyme Q10 deficiency 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014562"
    },
    {
      "id": 15745,
      "label": "primary coenzyme Q10 deficiency 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070245",
          "GARD:0025013",
          "MEDGEN:908648",
          "OMIM:616733",
          "UMLS:C4225226"
        ],
        "synonyms": [
          "COQ10D8",
          "COQ7 coenzyme Q10 deficiency",
          "coenzyme Q10 deficiency caused by mutation in COQ7",
          "coenzyme Q10 deficiency, primary, 8",
          "coenzyme Q10 deficiency, primary, type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014754"
    },
    {
      "id": 22698,
      "label": "coenzyme q10 deficiency, primary, 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112138",
          "GARD:0016403",
          "MEDGEN:1740444",
          "OMIM:619028",
          "UMLS:C5436638"
        ],
        "synonyms": [
          "COQ10D9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033615"
    },
    {
      "id": 25836,
      "label": "COQ7-related distal hereditary motor neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222,
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026944",
          "MEDGEN:1863922",
          "Orphanet:658778",
          "UMLS:C5925143"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958129"
    }
  ],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}