{
  "id": 18647,
  "label": "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018655",
  "properties": {
    "xrefs": [
      "GARD:0017773",
      "MEDGEN:1842862",
      "NANDO:1200583",
      "NANDO:2201295",
      "Orphanet:447893",
      "UMLS:C5681201"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "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"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12973,
      "label": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}