{
  "id": 8708,
  "label": "Charcot-Marie-Tooth disease type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007309",
  "properties": {
    "xrefs": [
      "DECIPHER:29",
      "DOID:0110148",
      "GARD:0001245",
      "MEDGEN:75727",
      "NCIT:C75468",
      "OMIM:118220",
      "Orphanet:101081",
      "UMLS:C0270911"
    ],
    "synonyms": [
      "CMT1A",
      "Charcot-Marie-Tooth disease type 1A",
      "Charcot-Marie-Tooth disease, type 1A",
      "Charcot-Marie-Tooth syndrome type 1A",
      "HMSN1A",
      "hereditary motor and sensory neuropathy 1A",
      "microduplication 17p12",
      "CMT 1A",
      "Charcot Marie Tooth disease type 1A",
      "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A",
      "Charcot-Marie-Tooth disease, demyelinating, type 1A",
      "Charcot-Marie-Tooth neuropathy, type 1A",
      "HMSN 1A"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17365,
      "label": "partial duplication of the short arm of chromosome 17",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17351
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826039",
          "Orphanet:262803",
          "UMLS:C5679714",
          "icd11.foundation:1672849162"
        ],
        "synonyms": [
          "partial duplication of chromosome 17p",
          "partial duplication of the short arm of chromosome type 17",
          "partial trisomy of chromosome 17p",
          "partial trisomy of the short arm of chromosome 17"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016950"
    },
    {
      "id": 18926,
      "label": "Charcot-Marie-Tooth disease type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050538",
          "GARD:0012433",
          "MEDGEN:155486",
          "NANDO:1200017",
          "Orphanet:65753",
          "SCTID:398040009",
          "UMLS:C0751036"
        ],
        "synonyms": [
          "CMT1",
          "Charcot-Marie-Tooth neuropathy type 1",
          "autosomal dominant demyelinating Charcot-Marie-Tooth disease",
          "hereditary motor and sensory neuropathy type 1",
          "Charcot-Marie-Tooth type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019011"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17365,
      "label": "partial duplication of the short arm of chromosome 17"
    },
    {
      "id": 18926,
      "label": "Charcot-Marie-Tooth disease type 1"
    }
  ]
}