{
  "id": 15071,
  "label": "mitochondrial DNA deletion syndrome with progressive myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014062",
  "properties": {
    "xrefs": [
      "DOID:0111519",
      "GARD:0017518",
      "MEDGEN:767513",
      "OMIM:615156",
      "Orphanet:352470",
      "UMLS:C3554599"
    ],
    "synonyms": [
      "mitochondrial DNA deletion syndrome with limb-girdle weakness",
      "mtDNA deletion syndrome with limb-girdle weakness",
      "mtDNA deletion syndrome with progressive myopathy",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6",
      "PEOA6",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6",
      "progressive external ophthalmoplegia, autosomal dominant 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2722,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022709",
          "OMIMPS:157640"
        ],
        "synonyms": [
          "progressive external ophthalmoplegia with mtDNA deletions"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0000090"
    },
    {
      "id": 18302,
      "label": "mitochondrial DNA depletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070329",
          "GARD:0013643",
          "MEDGEN:452449",
          "MedDRA:10059396",
          "NANDO:2200523",
          "NANDO:2200528",
          "OMIMPS:603041",
          "Orphanet:35698",
          "UMLS:C0342782",
          "icd11.foundation:1159345506"
        ],
        "synonyms": [
          "mtDNA depletion syndrome"
        ],
        "definition": "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome."
      },
      "child_count": 21,
      "reference_id": "MONDO:0018158"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2722,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions"
    },
    {
      "id": 18302,
      "label": "mitochondrial DNA depletion syndrome"
    }
  ]
}