{
  "id": 23896,
  "label": "TUBB3-related tubulinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100154",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 23895,
      "label": "tubulinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112227"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100153"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 12045,
      "label": "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8980,
        23896
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081017",
          "GARD:0015321",
          "MEDGEN:412638",
          "MESH:C567572",
          "OMIM:600638",
          "UMLS:C2748801"
        ],
        "synonyms": [
          "TUBB3 congenital fibrosis of extraocular muscles",
          "congenital fibrosis of extraocular muscles caused by mutation in TUBB3",
          "fibrosis of extraocular muscles, congenital, 3A",
          "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",
          "CFEOM3A",
          "Feom3 locus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010912"
    }
  ],
  "roots": [
    {
      "id": 23895,
      "label": "tubulinopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}