{
  "id": 16413,
  "label": "Charcot-Marie-Tooth disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015626",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 24,
  "parents": [
    {
      "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": 8709,
      "label": "Charcot-Marie-Tooth disease, Guadalajara neuronal type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024548",
          "MEDGEN:350075",
          "MESH:C566137",
          "OMIM:118230",
          "UMLS:C1861673"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease, Guadalajara neuronal type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007310"
    },
    {
      "id": 8711,
      "label": "Charcot-Marie-Tooth disease with ptosis and parkinsonism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000251",
          "MEDGEN:396191",
          "MESH:C538079",
          "OMIM:118301",
          "UMLS:C1861668"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease with ptosis and parkinsonism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007312"
    },
    {
      "id": 9135,
      "label": "Charcot-Marie-Tooth disease type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050540",
          "GARD:0009204",
          "MEDGEN:3710",
          "NCIT:C133087",
          "NORD:1037",
          "OMIM:145900",
          "Orphanet:64748",
          "SCTID:111499002",
          "UMLS:C0011195"
        ],
        "synonyms": [
          "CMT3",
          "Charcot-Marie-Tooth disease type 3",
          "Charcot-Marie-Tooth disease, type 3",
          "Dejerine-Sottas Syndrome",
          "Dejerine-Sottas neuropathy",
          "Dejerine-Sottas syndrome",
          "HMSN 3",
          "HMSN III",
          "HMSN3",
          "dejerine-sottas disease",
          "hereditary motor and sensory neuropathy type 3",
          "hereditary motor and sensory neuropathy type III",
          "hypertrophic neuropathy of Dejerine-Sottas",
          "DSN",
          "hereditary motor and sensory neuropathy 3",
          "hypertrophic neuropathy of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007790"
    },
    {
      "id": 9743,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16221,
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111200",
          "GARD:0016953",
          "MEDGEN:356618",
          "MESH:C566675",
          "NCIT:C132826",
          "OMIM:182960",
          "Orphanet:139518",
          "UMLS:C1866784"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease, spinal, I",
          "DHMN1",
          "autosomal dominant distal juvenile spinal muscular atrophy type 1",
          "dHMN1",
          "distal hereditary motor neuronopathy type I",
          "neuronopathy, distal hereditary motor, type 1",
          "Charcot-Marie-Tooth disease, spinal, 1",
          "HMN 1",
          "HMN1",
          "neuronopathy, distal hereditary motor, type I",
          "neuropathy, distal hereditary motor, type 1",
          "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008451"
    },
    {
      "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": 15886,
      "label": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111557",
          "GARD:0025032",
          "MEDGEN:934692",
          "NCIT:C150647",
          "OMIM:617087",
          "UMLS:C4310725"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease type 2A2B",
          "CMT2A2B",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014906"
    },
    {
      "id": 18737,
      "label": "demyelinating hereditary motor and sensory neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16220,
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021952",
          "MEDGEN:1843348",
          "Orphanet:476116",
          "UMLS:C5680106"
        ],
        "synonyms": [
          "demyelinating HMSN",
          "demyelinating hereditary motor and sensory neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018776"
    },
    {
      "id": 18739,
      "label": "intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050543",
          "GARD:0021954",
          "MEDGEN:1826149",
          "NANDO:1200019",
          "Orphanet:476123",
          "UMLS:C5680108",
          "icd11.foundation:1389094589"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease intermediate type",
          "Intermediate hereditary motor and sensory neuropathy",
          "Charcot-Marie-Tooth disease dominant intermediate",
          "Charcot-Marie-Tooth disease recessive intermediate"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018778"
    },
    {
      "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"
    },
    {
      "id": 18910,
      "label": "Charcot-Marie-Tooth disease type X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050542",
          "GARD:0012444",
          "ICD9:356.9",
          "MEDGEN:1637021",
          "Orphanet:64747",
          "SCTID:230552007",
          "UMLS:C4551551"
        ],
        "synonyms": [
          "CMTX",
          "COWCK",
          "X-linked hereditary motor and sensory neuropathy",
          "X-linked Charcot-Marie-Tooth disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018994"
    },
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050541",
          "GARD:0012440",
          "MEDGEN:905419",
          "Orphanet:64749",
          "SCTID:715795005",
          "UMLS:C4082197"
        ],
        "synonyms": [
          "AR-CMT1",
          "CMT4",
          "autosomal recessive demyelinating Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018995"
    },
    {
      "id": 18926,
      "label": "Charcot-Marie-Tooth disease type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050538",
          "GARD:0012433",
          "MEDGEN:155486",
          "NANDO:1200017",
          "Orphanet:65753",
          "SCTID:398040009",
          "UMLS:C0751036"
        ],
        "synonyms": [
          "CMT1",
          "Charcot-Marie-Tooth neuropathy type 1",
          "autosomal dominant demyelinating Charcot-Marie-Tooth disease",
          "hereditary motor and sensory neuropathy type 1",
          "Charcot-Marie-Tooth type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019011"
    },
    {
      "id": 21713,
      "label": "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061168",
          "GARD:0025478",
          "MEDGEN:1731194",
          "OMIM:500013",
          "UMLS:C5435765"
        ],
        "synonyms": [
          "CMTMA1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0025622"
    },
    {
      "id": 21914,
      "label": "Charcot-Marie-Tooth disease, axonal, type 2FF",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025558",
          "MEDGEN:1794191",
          "OMIM:619519",
          "UMLS:C5561981"
        ],
        "synonyms": [
          "CMT2FF",
          "Charcot-Marie-Tooth neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030433"
    },
    {
      "id": 21928,
      "label": "Charcot-Marie-Tooth disease, axonal, Type 2HH",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025568",
          "MEDGEN:1794213",
          "OMIM:619574",
          "UMLS:C5562003"
        ],
        "synonyms": [
          "CMT2HH"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030458"
    },
    {
      "id": 21995,
      "label": "Charcot-Marie-Tooth disease, demyelinating, IIA 1I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413,
        24672
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025607",
          "MEDGEN:1811493",
          "OMIM:619742",
          "UMLS:C5676914"
        ],
        "synonyms": [
          "CMT1I",
          "Charcot-Marie-Tooth disease neuropathy, IIA 1I",
          "Charcot-Marie-Tooth disease, demyelinating, IIA 1I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030677"
    },
    {
      "id": 22000,
      "label": "Charcot-Marie-Tooth disease, demyelinating, IIA 1H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025612",
          "MEDGEN:1804752",
          "OMIM:619764",
          "UMLS:C5676926"
        ],
        "synonyms": [
          "CMT1H",
          "Charcot-Marie-Tooth disease, demyelinating, IIA 1H",
          "Charcot-Marie-Tooth neuropathy, IIA 1H",
          "hereditary motor and sensory neuropathy, 1h",
          "neuropathy, hereditary, with or without age-related macular degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030689"
    },
    {
      "id": 22217,
      "label": "Charcot-Marie-Tooth disease, axonal, IIa 2II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025691",
          "MEDGEN:1824000",
          "OMIM:620068",
          "UMLS:C5774227"
        ],
        "synonyms": [
          "CMT2II",
          "charcot-marie-tooth disease, axonal, IIa 2II",
          "charcot-marie-tooth neuropathy, IIa 2II"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031068"
    },
    {
      "id": 22616,
      "label": "Charcot-Marie-Tooth disease, demyelinating, type 1G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111560",
          "GARD:0017851",
          "MEDGEN:1648290",
          "OMIM:618279",
          "Orphanet:476394",
          "UMLS:C4748940"
        ],
        "synonyms": [
          "CMT1G",
          "Charcot-Marie-Tooth disease, demyelinating, type 1G",
          "PMP2-related Charcot-Marie-Tooth disease type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0033135"
    },
    {
      "id": 25445,
      "label": "Charcot-Marie-Tooth disease, demyelinating, type 1J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026691",
          "MEDGEN:1824022",
          "OMIM:620111",
          "UMLS:C5774249"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859311"
    },
    {
      "id": 26196,
      "label": "Charcot-Marie-tooth disease, axonal, type 2JJ",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051043",
          "GARD:0027433",
          "MEDGEN:1875159",
          "OMIM:621095",
          "UMLS:C5975629"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976227"
    },
    {
      "id": 26391,
      "label": "Charcot-Marie-Tooth disease, axonal, type 2KK",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621466"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980963"
    },
    {
      "id": 26397,
      "label": "Charcot-Marie-Tooth disease, axonal, type 2LL",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621485"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980969"
    },
    {
      "id": 26399,
      "label": "charcot-marie-tooth disease, axonal, type 2MM",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621488"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980971"
    }
  ],
  "roots": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}