{
  "id": 15661,
  "label": "hypomyelinating leukodystrophy 11",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014666",
  "properties": {
    "xrefs": [
      "DOID:0060792",
      "GARD:0018088",
      "MEDGEN:897960",
      "OMIM:616494",
      "UMLS:C4225305"
    ],
    "synonyms": [
      "HLD11",
      "POLR1C leukodystrophy",
      "hypomyelinating leukodystrophy type 11",
      "leukodystrophy caused by mutation in POLR1C",
      "leukodystrophy, hypomyelinating, type 11",
      "leukodystrophy, hypomyelinating, 11"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24673,
      "label": "POLR1C-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Disorder in which the cause of disease is a variation in the POLR1C gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700278"
    },
    {
      "id": 24677,
      "label": "POLR3-related leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027146",
          "MEDGEN:871615",
          "UMLS:C4038750"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700282"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24673,
      "label": "POLR1C-related disorder"
    },
    {
      "id": 24677,
      "label": "POLR3-related leukodystrophy"
    }
  ]
}