{
  "id": 12011,
  "label": "Charcot-Marie-Tooth disease type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010877",
  "properties": {
    "xrefs": [
      "DOID:0080067",
      "GARD:0009208",
      "MEDGEN:1648461",
      "OMIM:600361",
      "Orphanet:64751",
      "SCTID:76043009",
      "UMLS:C4721916"
    ],
    "synonyms": [
      "Charcot-Marie-Tooth disease-pyramidal features syndrome",
      "HMSN 5",
      "hereditary motor and sensory neuropathy type 5",
      "CMT with pyramidal features",
      "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant",
      "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant",
      "HMSN5",
      "hereditary motor and sensory neuropathy 5",
      "hereditary motor and sensory neuropathy V",
      "peroneal muscular atrophy with pyramidal features, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity."
  },
  "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": 18959,
      "label": "hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5637,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2476",
          "GARD:0006637",
          "ICD10CM:G11.4",
          "ICD9:334.1",
          "MEDGEN:20844",
          "MESH:D015419",
          "MedDRA:10019903",
          "NANDO:1200052",
          "NCIT:C140267",
          "NORD:1238",
          "OMIMPS:303350",
          "Orphanet:685",
          "SCTID:39912006",
          "UMLS:C0037773",
          "icd11.foundation:810807375"
        ],
        "synonyms": [
          "spastic paraplegia",
          "HSP",
          "SPG",
          "Strümpell-Lorrain disease",
          "familial spastic paraplegia",
          "hereditary spastic paraparesis",
          "FSP",
          "familial spastic paraparesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."
      },
      "child_count": 135,
      "reference_id": "MONDO:0019064"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 4423,
      "label": "motor peripheral neuropathy"
    },
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}