{
  "id": 18926,
  "label": "Charcot-Marie-Tooth disease type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019011",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8706,
      "label": "Charcot-Marie-Tooth disease type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12984,
        18926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110152",
          "GARD:0001246",
          "MEDGEN:124377",
          "NCIT:C118782",
          "OMIM:118200",
          "Orphanet:101082",
          "UMLS:C0270912",
          "icd11.foundation:1632280319"
        ],
        "synonyms": [
          "CMT1B",
          "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ",
          "Charcot-Marie-Tooth disease, type 1B",
          "HMSN IB",
          "HMSN1B",
          "MPZ Charcot-Marie-Tooth disease type 1",
          "CMT 1B",
          "Charcot Marie Tooth disease type 1B",
          "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B",
          "Charcot-Marie-Tooth disease, demyelinating, type 1B",
          "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy",
          "Charcot-Marie-Tooth neuropathy, type 1B",
          "HMSN 1B",
          "HMSN1",
          "hereditary motor and sensory neuropathy 1",
          "hereditary motor and sensory neuropathy 1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007307"
    },
    {
      "id": 8708,
      "label": "Charcot-Marie-Tooth disease type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17365,
        18926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:29",
          "DOID:0110148",
          "GARD:0001245",
          "MEDGEN:75727",
          "NCIT:C75468",
          "OMIM:118220",
          "Orphanet:101081",
          "UMLS:C0270911"
        ],
        "synonyms": [
          "CMT1A",
          "Charcot-Marie-Tooth disease type 1A",
          "Charcot-Marie-Tooth disease, type 1A",
          "Charcot-Marie-Tooth syndrome type 1A",
          "HMSN1A",
          "hereditary motor and sensory neuropathy 1A",
          "microduplication 17p12",
          "CMT 1A",
          "Charcot Marie Tooth disease type 1A",
          "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A",
          "Charcot-Marie-Tooth disease, demyelinating, type 1A",
          "Charcot-Marie-Tooth neuropathy, type 1A",
          "HMSN 1A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007309"
    },
    {
      "id": 8710,
      "label": "Charcot-Marie-Tooth disease type 1E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110153",
          "GARD:0009190",
          "MEDGEN:501212",
          "MESH:C537986",
          "OMIM:118300",
          "Orphanet:90658",
          "UMLS:C3495591",
          "icd11.foundation:1924906594"
        ],
        "synonyms": [
          "CMT1E",
          "Charcot-Marie-Tooth disease and deafness",
          "Charcot-Marie-Tooth disease, type 1E",
          "Charcot-Marie-Tooth disease-deafness syndrome",
          "CMT 1E",
          "Charcot Marie Tooth disease type 1E",
          "Charcot-Marie-Tooth disease, demyelinating, type 1E",
          "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007311"
    },
    {
      "id": 12121,
      "label": "Charcot-Marie-Tooth disease type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110151",
          "GARD:0001247",
          "MEDGEN:75728",
          "MESH:C537984",
          "OMIM:601098",
          "Orphanet:101083",
          "UMLS:C0270913",
          "icd11.foundation:1224517226"
        ],
        "synonyms": [
          "CMT1C",
          "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF",
          "Charcot-Marie-Tooth disease, type 1C",
          "HMSN1C",
          "LITAF Charcot-Marie-Tooth disease type 1",
          "CMT 1C",
          "CMT, slow nerve conduction type C",
          "Charcot Marie Tooth disease type 1C",
          "Charcot-Marie-Tooth disease, demyelinating, type 1C",
          "Charcot-Marie-Tooth neuropathy, type 1C",
          "HMSN 1C",
          "neuropathy, hereditary motor and sensory, type 1C"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010995"
    },
    {
      "id": 12967,
      "label": "Charcot-Marie-Tooth disease type 1D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110150",
          "GARD:0009189",
          "MEDGEN:334709",
          "MESH:C537985",
          "OMIM:607678",
          "Orphanet:101084",
          "SCTID:719979008",
          "UMLS:C1843247",
          "icd11.foundation:2062905967"
        ],
        "synonyms": [
          "CMT1D",
          "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2",
          "Charcot-Marie-Tooth disease, type 1D",
          "EGR2 Charcot-Marie-Tooth disease type 1",
          "HMSN1D",
          "hereditary motor and sensory neuropathy 1D",
          "CMT 1D",
          "Charcot Marie Tooth disease type 1D",
          "Charcot-Marie-Tooth disease, demyelinating, type 1D",
          "Charcot-Marie-Tooth neuropathy, type 1D",
          "HMSN 1D"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011890"
    },
    {
      "id": 12978,
      "label": "Charcot-Marie-Tooth disease type 1F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110149",
          "GARD:0009191",
          "MEDGEN:334337",
          "MESH:C537987",
          "OMIM:607734",
          "Orphanet:101085",
          "SCTID:719980006",
          "UMLS:C1843164",
          "icd11.foundation:1160290076"
        ],
        "synonyms": [
          "CMT1F",
          "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL",
          "Charcot-Marie-Tooth disease, type 1F",
          "NEFL Charcot-Marie-Tooth disease type 1",
          "CMT 1F",
          "Charcot Marie Tooth disease type 1F",
          "Charcot-Marie-Tooth disease, demyelinating, type 1F",
          "Charcot-Marie-Tooth neuropathy, type 1F"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011902"
    }
  ],
  "roots": [
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    }
  ]
}