{
  "id": 13831,
  "label": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012791",
  "properties": {
    "xrefs": [
      "DOID:0080124",
      "GARD:0003681",
      "MEDGEN:1876465",
      "MESH:C567624",
      "OMIM:612073",
      "Orphanet:1933",
      "UMLS:C5980207"
    ],
    "synonyms": [
      "booth-Haworth-Dilling syndrome",
      "mitochondrial DNA depletion syndrome 5",
      "mitochondrial DNA depletion syndrome type 5",
      "mitochondrial encephalomyopathy-aminoacidopathy syndrome",
      "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",
      "MTDPS5",
      "encephalomyopathy",
      "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)",
      "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related",
      "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive",
      "mitochondrial encephalomyopathy aminoacidopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17231,
      "label": "mitochondrial DNA depletion syndrome, encephalomyopathic form"
    }
  ]
}