{
  "id": 16945,
  "label": "autosomal dominant Charcot-Marie-Tooth disease type 2M",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016431",
  "properties": {
    "xrefs": [
      "GARD:0017147",
      "MEDGEN:930341",
      "Orphanet:228179",
      "SCTID:719514002",
      "UMLS:C4304672",
      "icd11.foundation:1601555981"
    ],
    "synonyms": [
      "CMT2M"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12764,
      "label": "Charcot-Marie-Tooth disease dominant intermediate B",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110197",
          "GARD:0012438",
          "MEDGEN:338346",
          "OMIM:606482",
          "Orphanet:100044",
          "SCTID:765745007",
          "UMLS:C1847902"
        ],
        "synonyms": [
          "CMTDI1",
          "CMTDIB",
          "Charcot-Marie-Tooth disease caused by mutation in DNM2",
          "Charcot-Marie-Tooth disease dominant intermediate type B",
          "Charcot-Marie-Tooth disease, axonal type 2M",
          "Charcot-Marie-Tooth disease, dominant Intermediate type B",
          "DI-CMTB",
          "DNM2 Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M",
          "Charcot-Marie-Tooth disease, axonal, type 2M",
          "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia",
          "Charcot-Marie-Tooth disease, dominant intermediate B",
          "Charcot-Marie-Tooth neuropathy, axonal, type 2M",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate B",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia",
          "Cmtdi1",
          "DNM2-related intermediate Charcot-Marie-Tooth neuropathy",
          "Di-CMTB",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts."
      },
      "child_count": 1,
      "reference_id": "MONDO:0011674"
    },
    {
      "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": 12764,
      "label": "Charcot-Marie-Tooth disease dominant intermediate B"
    },
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}