{
  "id": 11250,
  "label": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010060",
  "properties": {
    "xrefs": [
      "DOID:0050556",
      "DOID:0080126",
      "GARD:0004062",
      "MEDGEN:338613",
      "MESH:C535523",
      "OMIM:271245",
      "Orphanet:1186",
      "SCTID:724227000",
      "UMLS:C1849096"
    ],
    "synonyms": [
      "IOSCA",
      "OHAHA syndrome",
      "Ohaha syndrome",
      "TWNK autosomal recessive degenerative and progressive cerebellar ataxia",
      "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK",
      "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)",
      "mitochondrial DNA depletion syndrome type 7",
      "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome",
      "MTDPS7",
      "SCA8 (formerly)",
      "mitochondrial DNA depletion syndrome 7",
      "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis",
      "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis",
      "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis",
      "spinocerebellar ataxia 8",
      "spinocerebellar ataxia 8 (formerly)",
      "spinocerebellar ataxia 8, formerly",
      "spinocerebellar ataxia infantile with sensory neuropathy",
      "spinocerebellar ataxia, infantile, with sensory neuropathy",
      "spinocerebellar ataxia, infantile-onset"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019415",
          "MEDGEN:1842627",
          "Orphanet:98098",
          "UMLS:C5681515"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020046"
    },
    {
      "id": 24237,
      "label": "mitochondrial DNA depletion syndrome, hepatocerebral form",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020769",
          "MEDGEN:777993",
          "MESH:C580039",
          "Orphanet:254871",
          "UMLS:C3711385",
          "icd11.foundation:1285620325"
        ],
        "synonyms": [
          "deoxyguanosine kinase deficiency",
          "mtDNA depletion syndrome, hepatocerebral form"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0100512"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia"
    },
    {
      "id": 24237,
      "label": "mitochondrial DNA depletion syndrome, hepatocerebral form"
    }
  ]
}