{
  "id": 14669,
  "label": "Charcot-Marie-Tooth disease axonal type 2O",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013644",
  "properties": {
    "xrefs": [
      "DOID:0110175",
      "GARD:0012434",
      "MEDGEN:481850",
      "OMIM:614228",
      "Orphanet:284232",
      "UMLS:C3280220"
    ],
    "synonyms": [
      "CMT2O",
      "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1",
      "Charcot-Marie-Tooth disease, axonal, type 20",
      "DYNC1H1 Charcot-Marie-Tooth disease",
      "autosomal dominant Charcot-Marie-Tooth disease type 2O",
      "Charcot-Marie-Tooth disease type 2O",
      "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O",
      "Charcot-Marie-Tooth disease, axonal, type 2O",
      "Charcot-Marie-Tooth neuropathy, axonal, type 2O"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050539",
          "GARD:0012431",
          "ICD9:356.0",
          "MEDGEN:124378",
          "NANDO:1200018",
          "Orphanet:64746",
          "SCTID:715665006",
          "UMLS:C0270914",
          "icd11.foundation:403896648"
        ],
        "synonyms": [
          "CMT2",
          "autosomal dominant axonal Charcot-Marie-Tooth disease",
          "hereditary motor and sensory neuropathy type 2",
          "Charcot-Marie-Tooth type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."
      },
      "child_count": 39,
      "reference_id": "MONDO:0018993"
    },
    {
      "id": 29261,
      "label": "dyneinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        19329,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027115"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes."
      },
      "child_count": 6,
      "reference_id": "MONDO:1040031"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    },
    {
      "id": 29261,
      "label": "dyneinopathy"
    }
  ]
}