{
  "id": 24677,
  "label": "POLR3-related leukodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700282",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 24327,
      "label": "POLR-related leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18952
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100605"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 14743,
      "label": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6772,
        6875,
        19709,
        24672,
        24677
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060797",
          "GARD:0018624",
          "MEDGEN:482274",
          "MESH:C535353",
          "OMIM:213002",
          "OMIM:614381",
          "Orphanet:85186",
          "UMLS:C3280644"
        ],
        "synonyms": [
          "HLD8",
          "POLR3B leukodystrophy",
          "endosteal sclerosis-cerebellar hypoplasia syndrome",
          "leukodystrophy caused by mutation in POLR3B",
          "cerebellar hypoplasia with endosteal sclerosis",
          "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013722"
    },
    {
      "id": 15661,
      "label": "hypomyelinating leukodystrophy 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24673,
        24677
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014666"
    },
    {
      "id": 21862,
      "label": "leukodystrophy, hypomyelinating, 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24677
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070407",
          "GARD:0025525",
          "MEDGEN:1778269",
          "OMIM:619310",
          "UMLS:C5543334"
        ],
        "synonyms": [
          "HLD21",
          "leukodystrophy, hypomyelinating, 21"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030263"
    }
  ],
  "roots": [
    {
      "id": 24327,
      "label": "POLR-related leukodystrophy"
    }
  ]
}