{
  "id": 23895,
  "label": "tubulinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100153",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [
    {
      "id": 15339,
      "label": "complex cortical dysplasia with other brain malformations 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180,
        23895,
        24226,
        24241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090135",
          "GARD:0027070",
          "GARD:0027859",
          "MEDGEN:816737",
          "OMIM:615763",
          "UMLS:C3810407"
        ],
        "synonyms": [
          "CDCBM5",
          "TUBB2A complex cortical dysplasia with other brain malformations",
          "TUBB2A-related tubulinopathy",
          "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A",
          "complex cortical dysplasia with other brain malformations type 5",
          "cortical dysplasia, Complex, with Other brain malformations type 5",
          "cortical dysplasia, complex, with other brain malformations 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014337"
    },
    {
      "id": 18728,
      "label": "tubulinopathy-associated dysgyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19709,
        23895
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021944",
          "MEDGEN:1800273",
          "Orphanet:467166",
          "UMLS:C5568850"
        ],
        "synonyms": [
          "brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018763"
    },
    {
      "id": 23887,
      "label": "Uner Tan Syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        23895,
        24270
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "recessive quadrupedalism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100144"
    },
    {
      "id": 23896,
      "label": "TUBB3-related tubulinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23895,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100154"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}