{
  "id": 12728,
  "label": "Charcot-Marie-Tooth disease axonal type 2C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011633",
  "properties": {
    "xrefs": [
      "DOID:0110182",
      "GARD:0001250",
      "MEDGEN:342947",
      "OMIM:606071",
      "Orphanet:99937",
      "SCTID:717010007",
      "UMLS:C1853710"
    ],
    "synonyms": [
      "CMT2C",
      "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4",
      "HMSN2C",
      "TRPV4 Charcot-Marie-Tooth disease type 2",
      "autosomal dominant Charcot-Marie-Tooth disease type 2C",
      "CMT 2C",
      "Charcot Marie Tooth disease type 2C",
      "Charcot-Marie-Tooth disease type 2C",
      "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C",
      "Charcot-Marie-Tooth disease, axonal, type 2C",
      "Charcot-Marie-Tooth neuropathy, type 2C",
      "HMSN 2 C",
      "HMSN 2C",
      "hereditary motor and sensory neuropathy 2 C",
      "hereditary motor and sensory neuropathy, type 2C",
      "hereditary motor and sensory neuropathy, type IIC"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4423,
      "label": "motor peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2477",
          "ICD9:356.9",
          "MEDGEN:82885",
          "NCIT:C3500",
          "SCTID:95663000",
          "UMLS:C0271683"
        ],
        "synonyms": [
          "peripheral motor neuropathy",
          "HSMN",
          "HSMN - hereditary sensory and motor neuropathy",
          "hereditary motor and sensory neuropathy",
          "neuropathic muscular atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Inflammation or degeneration of the peripheral motor nerves."
      },
      "child_count": 9,
      "reference_id": "MONDO:0002316"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4423,
      "label": "motor peripheral neuropathy"
    },
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}