{
  "id": 12401,
  "label": "mitochondrial DNA depletion syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011283",
  "properties": {
    "xrefs": [
      "DOID:0080119",
      "GARD:0024787",
      "MEDGEN:1631838",
      "OMIM:603041",
      "UMLS:C4551995"
    ],
    "synonyms": [
      "mitochondrial DNA depletion syndrome 1",
      "mitochondrial DNA depletion syndrome type 1",
      "MTDPS1",
      "Mngie, tymp-related",
      "Polip syndrome",
      "mitochondrial DNA depletion syndrome 1 (MNGIE type)",
      "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related",
      "myoneurogastrointestinal encephalopathy syndrome",
      "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17856,
      "label": "mitochondrial neurogastrointestinal encephalomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        10856,
        19102,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009920",
          "MEDGEN:167876",
          "MESH:C537477",
          "NCIT:C119678",
          "NORD:1449",
          "Orphanet:298",
          "SCTID:718214007",
          "UMLS:C0872218"
        ],
        "synonyms": [
          "MNGIE",
          "Mitochondrial Neurogastrointestinal Encephalopathy",
          "Mitochondrial neurogastrointestinal encephalopathy",
          "mitochondrial Neurogastrointestingal encephalopathy",
          "MNGIE syndrome",
          "OGIMD",
          "POLIP",
          "mitochondrial neurogastrointestinal encephalopathy syndrome",
          "myoneurogastrointestinal encephalopathy syndrome",
          "oculogastrointestinal muscular dystrophy",
          "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction",
          "thymidine phosphorylase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy."
      },
      "child_count": 20,
      "reference_id": "MONDO:0017575"
    },
    {
      "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": 17856,
      "label": "mitochondrial neurogastrointestinal encephalomyopathy"
    },
    {
      "id": 18302,
      "label": "mitochondrial DNA depletion syndrome"
    }
  ]
}