{
  "id": 12973,
  "label": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011897",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 24671,
      "label": "POLR3A-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 POLR3A gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700276"
    },
    {
      "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": [
    {
      "id": 18647,
      "label": "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12973,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017773",
          "MEDGEN:1842862",
          "NANDO:1200583",
          "NANDO:2201295",
          "Orphanet:447893",
          "UMLS:C5681201"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018655"
    },
    {
      "id": 18648,
      "label": "tremor-ataxia-central hypomyelination syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6639,
        12973,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017774",
          "MEDGEN:1842823",
          "Orphanet:447896",
          "UMLS:C5680067"
        ],
        "synonyms": [
          "TACH syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018656"
    },
    {
      "id": 19050,
      "label": "odontoleukodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12973
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019177"
    },
    {
      "id": 24322,
      "label": "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12973
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027286",
          "MEDGEN:1639554",
          "Orphanet:137639",
          "UMLS:C4706676"
        ],
        "synonyms": [
          "ataxia-delayed dentition-hypomyelination syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100600"
    }
  ],
  "roots": [
    {
      "id": 24671,
      "label": "POLR3A-related disorder"
    },
    {
      "id": 24677,
      "label": "POLR3-related leukodystrophy"
    }
  ]
}