{
  "id": 12571,
  "label": "hereditary motor and sensory neuropathy, Okinawa type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011468",
  "properties": {
    "xrefs": [
      "GARD:0010131",
      "MEDGEN:346886",
      "MESH:C535717",
      "OMIM:604484",
      "Orphanet:90117",
      "UMLS:C1858338"
    ],
    "synonyms": [
      "HMSNP",
      "hereditary motor and sensory neuropathy, proximal type",
      "HMSNO",
      "hereditary motor and sensory neuropathy, proximal type, formerly",
      "neuropathy, hereditary motor and sensory, Okinawa type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 18577,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12571,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021815",
          "MEDGEN:1800451",
          "Orphanet:435819",
          "UMLS:C5569028"
        ],
        "synonyms": [
          "CMT2 due to TFG mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018567"
    }
  ],
  "roots": [
    {
      "id": 4423,
      "label": "motor peripheral neuropathy"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}