{
  "id": 24327,
  "label": "POLR-related leukodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100605",
  "properties": {
    "xrefs": [
      "GARD:0027288",
      "MEDGEN:1803536",
      "Orphanet:289494",
      "UMLS:C5679947"
    ],
    "synonyms": [
      "4H leukodystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It 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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 25801,
      "label": "leukodystrophy, hypomyelinating, 27",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026912",
          "MEDGEN:1844996",
          "OMIM:620675",
          "UMLS:C5882743"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958018"
    }
  ],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}