{
  "id": 19358,
  "label": "hereditary motor and sensory neuropathy type 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019551",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012685",
          "ICD10CM:G60.0",
          "MEDGEN:45066",
          "MESH:D015417",
          "NANDO:2200855",
          "Orphanet:140450",
          "SCTID:398100001",
          "UMLS:C0027888",
          "icd11.foundation:1538134578"
        ],
        "synonyms": [
          "HMSN"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
      },
      "child_count": 8,
      "reference_id": "MONDO:0015358"
    }
  ],
  "children": [
    {
      "id": 12128,
      "label": "neuropathy, hereditary motor and sensory, type 6A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        16413,
        19358
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011002"
    },
    {
      "id": 15666,
      "label": "neuropathy, hereditary motor and sensory, type 6B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        19358
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018092",
          "MEDGEN:895482",
          "OMIM:616505",
          "UMLS:C4225302"
        ],
        "synonyms": [
          "CMT6B",
          "Charcot-Marie-Tooth disease, type 6B",
          "HMSN 6B",
          "HMSN6B",
          "SLC25A46 hereditary motor and sensory neuropathy type 6",
          "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46",
          "neuropathy, hereditary motor and sensory, type 6B",
          "neuropathy, hereditary motor and sensory, type VIB"
        ],
        "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 SLC25A46 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014671"
    },
    {
      "id": 22449,
      "label": "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19358
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025745",
          "MEDGEN:1680245",
          "OMIM:618511",
          "UMLS:C5193137"
        ],
        "synonyms": [
          "CMT 6C",
          "CMT6C",
          "Charcot-Marie-Tooth Disease, Type 6C",
          "HMSN 6C",
          "HMSN6C",
          "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032792"
    }
  ],
  "roots": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy"
    }
  ]
}