{
  "id": 12128,
  "label": "neuropathy, hereditary motor and sensory, type 6A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011002",
  "properties": {
    "xrefs": [
      "GARD:0018091",
      "OMIM:601152"
    ],
    "synonyms": [
      "Charcot-Marie-Tooth disease, type 6",
      "neuropathy, hereditary motor and sensory, type 6",
      "peripheral neuropathy and optic atrophy",
      "Charcot-Marie-Tooth disease, type 6A",
      "HMSN6A",
      "MFN2 hereditary motor and sensory neuropathy type 6",
      "hereditary motor and sensory neuropathy VIA",
      "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2",
      "neuropathy, hereditary motor and sensory, type VIA",
      "HMSN 6A"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene."
  },
  "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": 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"
    },
    {
      "id": 19358,
      "label": "hereditary motor and sensory neuropathy type 6",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080068",
          "GARD:0016787",
          "MEDGEN:140747",
          "Orphanet:90120",
          "UMLS:C0393807",
          "icd11.foundation:467894833"
        ],
        "synonyms": [
          "CMT6",
          "Charcot-Marie-Tooth disease type 6",
          "hereditary motor and sensory neuropathy type 6",
          "peripheral neuropathy and optic atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0019551"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4423,
      "label": "motor peripheral neuropathy"
    },
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    },
    {
      "id": 19358,
      "label": "hereditary motor and sensory neuropathy type 6"
    }
  ]
}