{
  "id": 19050,
  "label": "odontoleukodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019177",
  "properties": {
    "xrefs": [
      "GARD:0009632",
      "MEDGEN:502456",
      "Orphanet:77295",
      "SCTID:722064003",
      "UMLS:C3502054"
    ],
    "synonyms": [
      "dentoleukoencephalopathy",
      "leukodystrophy with oligodontia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A leukodystrophy characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12973,
      "label": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24671,
        24677
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060794",
          "GARD:0016948",
          "NANDO:1200585",
          "NANDO:2201297",
          "OMIM:607694",
          "SCTID:721846006"
        ],
        "synonyms": [
          "4H syndrome",
          "HLD7",
          "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism",
          "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
          "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism",
          "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
      },
      "child_count": 8,
      "reference_id": "MONDO:0011897"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12973,
      "label": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"
    }
  ]
}