{
  "id": 13832,
  "label": "mitochondrial DNA depletion syndrome 8a",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012792",
  "properties": {
    "xrefs": [
      "DOID:0070331",
      "DOID:0080127",
      "GARD:0013200",
      "MEDGEN:412815",
      "OMIM:612075",
      "Orphanet:255235",
      "SCTID:765100000",
      "UMLS:C2749861"
    ],
    "synonyms": [
      "RRM2B mitochondrial DNA depletion syndrome",
      "mitochondrial DNA depletion syndrome caused by mutation in RRM2B",
      "mitochondrial DNA depletion syndrome type 8a",
      "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
      "MTDPS8A",
      "Mngie, Rrm2B-related",
      "RRM2B-related mitochondrial DNA depletion syndrome",
      "encephalomyopathic type with renal tubulopathy",
      "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)",
      "mitochondrial DNA depletion syndrome 8B (Mngie type)",
      "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
      "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive",
      "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17231,
      "label": "mitochondrial DNA depletion syndrome, encephalomyopathic form",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017225",
          "MEDGEN:1637084",
          "Orphanet:254803",
          "UMLS:C4707428",
          "icd11.foundation:113380609"
        ],
        "synonyms": [
          "mtDNA depletion syndrome, encephalomyopathic form"
        ],
        "definition": "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016796"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17231,
      "label": "mitochondrial DNA depletion syndrome, encephalomyopathic form"
    },
    {
      "id": 17856,
      "label": "mitochondrial neurogastrointestinal encephalomyopathy"
    }
  ]
}