{
  "id": 18739,
  "label": "intermediate Charcot-Marie-Tooth disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018778",
  "properties": {
    "xrefs": [
      "DOID:0050543",
      "GARD:0021954",
      "MEDGEN:1826149",
      "NANDO:1200019",
      "Orphanet:476123",
      "UMLS:C5680108",
      "icd11.foundation:1389094589"
    ],
    "synonyms": [
      "Charcot-Marie-Tooth disease intermediate type",
      "Intermediate hereditary motor and sensory neuropathy",
      "Charcot-Marie-Tooth disease dominant intermediate",
      "Charcot-Marie-Tooth disease recessive intermediate"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10595",
          "GARD:0006034",
          "ICD9:356.1",
          "MEDGEN:2980",
          "MESH:D002607",
          "MedDRA:10034699",
          "NANDO:1200016",
          "NANDO:2200855",
          "NCIT:C75467",
          "NORD:919",
          "OMIMPS:118220",
          "Orphanet:166",
          "UMLS:C0007959"
        ],
        "synonyms": [
          "hereditary motor and sensory neuropathy",
          "hereditary sensorimotor neuropathy",
          "CMT",
          "CMT/HMSN",
          "Charcot Marie Tooth muscular atrophy",
          "Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth hereditary neuropathy",
          "peroneal muscular atrophy",
          "Charcot Marie Tooth disease",
          "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs."
      },
      "child_count": 24,
      "reference_id": "MONDO:0015626"
    }
  ],
  "children": [
    {
      "id": 17439,
      "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012452",
          "MEDGEN:1843095",
          "Orphanet:268337",
          "UMLS:C5679732"
        ],
        "synonyms": [
          "RI-CMT",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease",
          "intermediate Charcot-Marie-Tooth disease, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017058"
    },
    {
      "id": 19355,
      "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012436",
          "MEDGEN:1826161",
          "Orphanet:90114",
          "UMLS:C5680178"
        ],
        "synonyms": [
          "CMTDI",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease",
          "intermediate Charcot-Marie-Tooth disease, autosomal dominant",
          "autosomal dominant intermediate Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019548"
    },
    {
      "id": 22940,
      "label": "Charcot-Marie-Tooth disease, dominant intermediate G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080294",
          "GARD:0025819",
          "MEDGEN:1642893",
          "OMIM:617882",
          "UMLS:C4693509"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease, dominant intermediate G",
          "CMTDIG",
          "Charcot-Marie-Tooth disease dominant intermediate G"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0036484"
    }
  ],
  "roots": [
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    }
  ]
}