{
  "id": 18909,
  "label": "Charcot-Marie-Tooth disease type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018993",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 39,
  "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": 8707,
      "label": "Charcot-Marie-Tooth disease type 2A1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110154",
          "GARD:0001248",
          "MEDGEN:350076",
          "MESH:C566138",
          "NCIT:C134952",
          "NCIT:C150609",
          "OMIM:118210",
          "Orphanet:99946",
          "SCTID:717016001",
          "UMLS:C1861678",
          "icd11.foundation:2087067372"
        ],
        "synonyms": [
          "CMT2A",
          "CMT2A1",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B",
          "Charcot-Marie-Tooth disease type 2A",
          "Charcot-Marie-Tooth disease type 2A1",
          "Charcot-Marie-Tooth disease, type 2A1",
          "HMSN IIA1",
          "HMSN2A1",
          "KIF1B Charcot-Marie-Tooth disease type 2",
          "hereditary motor and sensory neuropathy IIA1",
          "CMT 2A",
          "Charcot Marie Tooth disease type 2A",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1",
          "Charcot-Marie-Tooth disease, axonal, type 2A",
          "Charcot-Marie-Tooth disease, axonal, type 2A1",
          "Charcot-Marie-Tooth disease, neuronal, type 2A",
          "Charcot-Marie-Tooth disease, neuronal, type 2A1",
          "Charcot-Marie-Tooth neuropathy, type 2A1",
          "HMSN IIA",
          "HMSN IIa1",
          "autosomal dominant Charcot-Marie-Tooth disease type 2A1",
          "hereditary motor and sensory neuropathy 2 A",
          "hereditary motor and sensory neuropathy IIa1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007308"
    },
    {
      "id": 12079,
      "label": "Charcot-Marie-Tooth disease type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110159",
          "GARD:0009192",
          "MEDGEN:371512",
          "MESH:C537989",
          "OMIM:600882",
          "Orphanet:99936",
          "SCTID:717008005",
          "UMLS:C1833219",
          "icd11.foundation:1425224652"
        ],
        "synonyms": [
          "CMT2B",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A",
          "Charcot-Marie-Tooth disease, type 2B",
          "HMSN2B",
          "RAB7A Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2B",
          "CMT 2B",
          "Charcot Marie Tooth disease type 2B",
          "Charcot-Marie-Tooth disease, autosomal dominant, type 2B",
          "Charcot-Marie-Tooth disease, axonal, type 2B",
          "Charcot-Marie-Tooth disease, neuronal, type 2B",
          "Charcot-Marie-Tooth neuropathy, type 2B",
          "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)",
          "hereditary motor and sensory neuropathy 2B",
          "peripheral sensory neuropathy, autosomal dominant (PSN)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010949"
    },
    {
      "id": 12217,
      "label": "Charcot-Marie-Tooth disease type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110164",
          "GARD:0001251",
          "MEDGEN:316946",
          "MESH:C537993",
          "NCIT:C122659",
          "OMIM:601472",
          "Orphanet:99938",
          "SCTID:717011006",
          "UMLS:C1832274",
          "icd11.foundation:1617529678"
        ],
        "synonyms": [
          "CMT2D",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS",
          "Charcot-Marie-Tooth disease, type 2D",
          "GARS Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2D",
          "CMT 2D",
          "Charcot Marie Tooth disease type 2D",
          "Charcot-Marie-Tooth disease, axonal, type 2D",
          "Charcot-Marie-Tooth disease, neuronal, type 2D",
          "Charcot-Marie-Tooth neuropathy, type 2D"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011091"
    },
    {
      "id": 12665,
      "label": "Charcot-Marie-Tooth disease type 2B1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909,
        20345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110156",
          "GARD:0008548",
          "MEDGEN:343064",
          "MESH:C537990",
          "OMIM:605588",
          "Orphanet:98856",
          "SCTID:725048002",
          "UMLS:C1854154",
          "icd11.foundation:957134152"
        ],
        "synonyms": [
          "AR-CMT2B1",
          "CMT2B1",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA",
          "Charcot-Marie-Tooth disease, type 2B1",
          "LMNA Charcot-Marie-Tooth disease type 2",
          "autosomal recessive Charcot-Marie-Tooth disease type 2B1",
          "autosomal recessive axonal CMT4C1",
          "CMT 2B1",
          "Charcot Marie Tooth disease type 2B1",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1",
          "Charcot-Marie-Tooth disease, axonal, type 2B1",
          "Charcot-Marie-Tooth disease, neuronal, type 2B1",
          "Charcot-Marie-Tooth neuropathy, type 2B1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011569"
    },
    {
      "id": 12666,
      "label": "Charcot-Marie-Tooth disease type 2B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110179",
          "GARD:0001249",
          "MEDGEN:381352",
          "MESH:C537991",
          "OMIM:605589",
          "Orphanet:101101",
          "SCTID:719981005",
          "UMLS:C1854150",
          "icd11.foundation:2009111705"
        ],
        "synonyms": [
          "AR-CMT2B2",
          "ARCMT2B",
          "CMT2B2",
          "Charcot-Marie-Tooth disease type 2B2",
          "Charcot-Marie-Tooth disease, type 2B2",
          "autosomal recessive axonal CMT4C3",
          "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2",
          "Arcmt2B",
          "CMT 2B2",
          "Charcot Marie Tooth disease type 2B2",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2",
          "Charcot-Marie-Tooth disease, axonal, type 2B2",
          "Charcot-Marie-Tooth disease, neuronal, type 2B2",
          "Charcot-Marie-Tooth neuropathy, type 2B2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011570"
    },
    {
      "id": 12728,
      "label": "Charcot-Marie-Tooth disease axonal type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110182",
          "GARD:0001250",
          "MEDGEN:342947",
          "OMIM:606071",
          "Orphanet:99937",
          "SCTID:717010007",
          "UMLS:C1853710"
        ],
        "synonyms": [
          "CMT2C",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4",
          "HMSN2C",
          "TRPV4 Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2C",
          "CMT 2C",
          "Charcot Marie Tooth disease type 2C",
          "Charcot-Marie-Tooth disease type 2C",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C",
          "Charcot-Marie-Tooth disease, axonal, type 2C",
          "Charcot-Marie-Tooth neuropathy, type 2C",
          "HMSN 2 C",
          "HMSN 2C",
          "hereditary motor and sensory neuropathy 2 C",
          "hereditary motor and sensory neuropathy, type 2C",
          "hereditary motor and sensory neuropathy, type IIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011633"
    },
    {
      "id": 12777,
      "label": "Charcot-Marie-Tooth disease axonal type 2F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110163",
          "GARD:0009194",
          "MEDGEN:335784",
          "MESH:C535413",
          "OMIM:606595",
          "Orphanet:99940",
          "SCTID:719510006",
          "UMLS:C1847823"
        ],
        "synonyms": [
          "CMT2F",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1",
          "HSPB1 Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2F",
          "CMT 2F",
          "Charcot Marie Tooth disease type 2F",
          "Charcot-Marie-Tooth disease type 2F",
          "Charcot-Marie-Tooth disease, axonal, type 2F",
          "Charcot-Marie-Tooth disease, neuronal, type 2F",
          "Charcot-Marie-Tooth neuropathy, type 2F"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011687"
    },
    {
      "id": 12966,
      "label": "Charcot-Marie-Tooth disease type 2I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12984,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110158",
          "GARD:0009197",
          "MEDGEN:854756",
          "OMIM:607677",
          "Orphanet:99942",
          "SCTID:717013009",
          "UMLS:C3888087",
          "icd11.foundation:1858507973"
        ],
        "synonyms": [
          "CMT2I",
          "Charcot-Marie-Tooth disease, type 2I",
          "CMT 2I",
          "Charcot Marie Tooth disease type 2I",
          "Charcot-Marie-Tooth disease, axonal, type 2I",
          "Charcot-Marie-Tooth neuropathy, type 2I",
          "autosomal dominant Charcot-Marie-Tooth disease type 2I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011889"
    },
    {
      "id": 12970,
      "label": "Charcot-Marie-Tooth disease type 2E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110165",
          "GARD:0009193",
          "MEDGEN:375127",
          "MESH:C537994",
          "NCIT:C134953",
          "OMIM:607684",
          "Orphanet:99939",
          "SCTID:717012004",
          "UMLS:C1843225",
          "icd11.foundation:1476045360"
        ],
        "synonyms": [
          "CMT2E",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL",
          "Charcot-Marie-Tooth disease, type 2E",
          "NEFL Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2E",
          "CMT 2E",
          "Charcot Marie Tooth disease type 2E",
          "Charcot-Marie-Tooth disease, axonal, type 2E",
          "Charcot-Marie-Tooth neuropathy, type 2E"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011894"
    },
    {
      "id": 12977,
      "label": "Charcot-Marie-Tooth disease axonal type 2H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110166",
          "GARD:0009196",
          "MEDGEN:334344",
          "MESH:C535415",
          "OMIM:607731",
          "Orphanet:101102",
          "SCTID:720637005",
          "UMLS:C1843173"
        ],
        "synonyms": [
          "AR-CMT2C",
          "CMT2H",
          "Charcot-Marie-Tooth disease type 2H",
          "autosomal recessive axonal CMT4C2",
          "axonal Charcot-Marie-Tooth disease with pyramidal involvement",
          "CMT 2H",
          "Charcot Marie Tooth disease type 2H",
          "Charcot-Marie-Tooth disease, axonal, type 2H",
          "Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive",
          "Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011901"
    },
    {
      "id": 12979,
      "label": "Charcot-Marie-Tooth disease type 2J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12984,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110157",
          "GARD:0009198",
          "MEDGEN:375107",
          "MESH:C535417",
          "OMIM:607736",
          "Orphanet:99943",
          "SCTID:717014003",
          "UMLS:C1843153",
          "icd11.foundation:1498789307"
        ],
        "synonyms": [
          "CMT2J",
          "Charcot-Marie-Tooth disease, type 2J",
          "CMT 2J",
          "Charcot Marie Tooth disease type 2J",
          "Charcot-Marie-Tooth disease, axonal, type 2J",
          "Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities",
          "Charcot-Marie-Tooth neuropathy, type 2J",
          "autosomal dominant Charcot-Marie-Tooth disease type 2J"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011903"
    },
    {
      "id": 12990,
      "label": "Charcot-Marie-Tooth disease axonal type 2K",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110167",
          "GARD:0012448",
          "MEDGEN:375064",
          "OMIM:607831",
          "Orphanet:101097",
          "SCTID:725047007",
          "UMLS:C1842983"
        ],
        "synonyms": [
          "ARCMT2K",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K",
          "autosomal recessive Charcot-Marie-Tooth disease with hoarseness",
          "autosomal recessive axonal CMT4C4",
          "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K",
          "CMT2K",
          "Charcot-Marie-Tooth disease, autosomal dominant, type 2K",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K",
          "Charcot-Marie-Tooth disease, axonal, type 2K",
          "Charcot-Marie-Tooth neuropathy, axonal, type 2K"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011916"
    },
    {
      "id": 13162,
      "label": "Charcot-Marie-Tooth disease axonal type 2L",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110174",
          "GARD:0012432",
          "MEDGEN:324826",
          "OMIM:608673",
          "Orphanet:99945",
          "SCTID:719513008",
          "UMLS:C1837552"
        ],
        "synonyms": [
          "CMT2L",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8",
          "HSPB8 Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2L",
          "Charcot-Marie-Tooth disease type 2L",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L",
          "Charcot-Marie-Tooth disease, axonal, type 2L",
          "Charcot-Marie-Tooth neuropathy, axonal, type 2L"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012096"
    },
    {
      "id": 13292,
      "label": "Charcot-Marie-Tooth disease type 2A2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110155",
          "GARD:0016925",
          "MEDGEN:1648317",
          "MESH:C563757",
          "NCIT:C150646",
          "OMIM:609260",
          "Orphanet:99947",
          "SCTID:764850002",
          "UMLS:C4721887",
          "icd11.foundation:1274363794"
        ],
        "synonyms": [
          "CMT2A2",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2",
          "Charcot-Marie-Tooth disease type 2A2A",
          "Charcot-Marie-Tooth disease, axonal, type 2A2A",
          "HMSN IIA2",
          "HMSN2A2",
          "MFN2 Charcot-Marie-Tooth disease type 2",
          "hereditary motor and sensory neuropathy IIA2",
          "CMT2A2A",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A",
          "Charcot-Marie-Tooth disease, axonal, type 2A2",
          "Charcot-Marie-Tooth disease, neuronal, type 2A2",
          "Charcot-Marie-Tooth neuropathy, type 2A2",
          "HMSN IIa2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2A2",
          "hereditary motor and sensory neuropathy IIa2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012231"
    },
    {
      "id": 13462,
      "label": "giant axonal neuropathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2734,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090069",
          "GARD:0012447",
          "MEDGEN:400593",
          "OMIM:610100",
          "Orphanet:401964",
          "UMLS:C1864695"
        ],
        "synonyms": [
          "CMT2 with giant axons",
          "DCAF8 giant axonal neuropathy",
          "HMSN2 with giant axons",
          "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons",
          "giant axonal neuropathy caused by mutation in DCAF8",
          "giant axonal neuropathy type 2",
          "GAN2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons",
          "giant axonal neuropathy 2, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012411"
    },
    {
      "id": 14248,
      "label": "Charcot-Marie-Tooth disease axonal type 2N",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110177",
          "GARD:0012429",
          "MEDGEN:413754",
          "MESH:C567653",
          "OMIM:613287",
          "Orphanet:228174",
          "SCTID:719515001",
          "UMLS:C2750090"
        ],
        "synonyms": [
          "AARS Charcot-Marie-Tooth disease type 2",
          "CMT2N",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in AARS",
          "autosomal dominant Charcot-Marie-Tooth disease type 2N",
          "Charcot-Marie-Tooth disease type 2N",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N",
          "Charcot-Marie-Tooth disease, axonal, type 2N",
          "Charcot-Marie-Tooth neuropathy, axonal, type 2N"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013212"
    },
    {
      "id": 14669,
      "label": "Charcot-Marie-Tooth disease axonal type 2O",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909,
        29261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110175",
          "GARD:0012434",
          "MEDGEN:481850",
          "OMIM:614228",
          "Orphanet:284232",
          "UMLS:C3280220"
        ],
        "synonyms": [
          "CMT2O",
          "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1",
          "Charcot-Marie-Tooth disease, axonal, type 20",
          "DYNC1H1 Charcot-Marie-Tooth disease",
          "autosomal dominant Charcot-Marie-Tooth disease type 2O",
          "Charcot-Marie-Tooth disease type 2O",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O",
          "Charcot-Marie-Tooth disease, axonal, type 2O",
          "Charcot-Marie-Tooth neuropathy, axonal, type 2O"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013644"
    },
    {
      "id": 14771,
      "label": "Charcot-Marie-Tooth disease axonal type 2P",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110169",
          "GARD:0012435",
          "MEDGEN:482427",
          "OMIM:608591",
          "OMIM:614436",
          "Orphanet:300319",
          "Orphanet:99941",
          "SCTID:719511005",
          "UMLS:C3280797"
        ],
        "synonyms": [
          "CMT2P",
          "Charcot-Marie-Tooth disease caused by mutation in LRSAM1",
          "Charcot-Marie-Tooth disease, axonal, type 2P",
          "Charcot-Marie-Tooth neuropathy, type 2P",
          "Charcot-Marie-Toothe disease, axonal, type 2P",
          "LRSAM1 Charcot-Marie-Tooth disease",
          "autosomal dominant Charcot-Marie-Tooth disease type 2G",
          "CMT 2G",
          "CMT2G",
          "Charcot Marie Tooth disease type 2G",
          "Charcot-Marie-Tooth disease type 2G",
          "Charcot-Marie-Tooth disease, axonal, type 2G",
          "Charcot-Marie-Tooth disease, axonal, type 2G, formerly",
          "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",
          "Charcot-Marie-Tooth disease, type 4A, axonal form",
          "Charcot-Marie-Tooth neuropathy, type 2G"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013753"
    },
    {
      "id": 15022,
      "label": "Charcot-Marie-Tooth disease axonal type 2Q",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110170",
          "GARD:0012446",
          "MEDGEN:767280",
          "OMIM:615025",
          "Orphanet:329258",
          "UMLS:C3554366"
        ],
        "synonyms": [
          "CMT2Q",
          "Charcot-Marie-Tooth disease caused by mutation in DHTKD1",
          "DHTKD1 Charcot-Marie-Tooth disease",
          "autosomal dominant Charcot-Marie-Tooth disease type 2Q",
          "Charcot-Marie-Tooth disease type 2Q",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q",
          "Charcot-Marie-Tooth disease, axonal, type 2Q",
          "Charcot-Marie-Tooth neuropathy, type 2Q"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014012"
    },
    {
      "id": 15214,
      "label": "Charcot-Marie-Tooth disease type 2R",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110161",
          "GARD:0012451",
          "MEDGEN:815985",
          "OMIM:615490",
          "Orphanet:397968",
          "UMLS:C3809655"
        ],
        "synonyms": [
          "CMT2R",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2",
          "Charcot-Marie-Tooth disease type 2R",
          "Charcot-Marie-Tooth disease, type 2R",
          "TRIM2 Charcot-Marie-Tooth disease type 2",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R",
          "Charcot-Marie-Tooth disease, axonal, type 2R",
          "Charcot-Marie-Tooth neuropathy, type 2R"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014208"
    },
    {
      "id": 15510,
      "label": "Charcot-Marie-Tooth disease axonal type 2S",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110171",
          "GARD:0017751",
          "MEDGEN:863786",
          "OMIM:616155",
          "Orphanet:443073",
          "UMLS:C4015349"
        ],
        "synonyms": [
          "CMT2S",
          "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2",
          "Charcot-Marie-Tooth disease type 2S",
          "IGHMBP2 Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S",
          "Charcot-Marie-Tooth disease, axonal, type 2S",
          "Charcot-Marie-Tooth neuropathy, type 2S"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014511"
    },
    {
      "id": 15564,
      "label": "Charcot-Marie-Tooth disease axonal type 2U",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110173",
          "GARD:0017638",
          "MEDGEN:906504",
          "OMIM:616280",
          "Orphanet:397735",
          "SCTID:765046002",
          "UMLS:C4084821"
        ],
        "synonyms": [
          "CMT2U",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS",
          "MARS Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation",
          "autosomal dominant Charcot-Marie-Tooth disease type 2U",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U",
          "Charcot-Marie-Tooth disease, axonal, type 2U",
          "Charcot-Marie-Tooth neuropathy, type 2U"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014566"
    },
    {
      "id": 15660,
      "label": "Charcot-Marie-Tooth disease axonal type 2V",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110178",
          "GARD:0017777",
          "MEDGEN:1800473",
          "OMIM:616491",
          "Orphanet:447964",
          "UMLS:C5569050"
        ],
        "synonyms": [
          "CMT2V",
          "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
          "NAGLU Charcot-Marie-Tooth disease",
          "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
          "autosomal dominant Charcot-Marie-Tooth disease type 2V",
          "hereditary adult-onset painful axonal polyneuropathy",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V",
          "Charcot-Marie-Tooth disease, axonal, type 2V",
          "Charcot-Marie-Tooth neuropathy, type 2V"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014665"
    },
    {
      "id": 15704,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2W",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110162",
          "GARD:0017891",
          "MEDGEN:1798909",
          "OMIM:616625",
          "Orphanet:488333",
          "UMLS:C5567486"
        ],
        "synonyms": [
          "CMT2W",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in HARS",
          "Charcot-Marie-Tooth disease, axonal, type 2w",
          "HARS Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation",
          "Charcot-Marie-Tooth disease, axonal type 2W",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W",
          "Charcot-Marie-Tooth disease, axonal, type 2W",
          "Charcot-Marie-Tooth neuropathy, type 2W"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014711"
    },
    {
      "id": 15718,
      "label": "Charcot-Marie-Tooth disease axonal type 2X",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110176",
          "EFO:1001983",
          "GARD:0017830",
          "MEDGEN:1800447",
          "OMIM:616668",
          "Orphanet:466775",
          "UMLS:C5569024"
        ],
        "synonyms": [
          "ARCMT2X",
          "CMT2X",
          "Charcot-Marie-Tooth disease caused by mutation in SPG11",
          "Charcot-Marie-Tooth disease, axonal, type 2x",
          "SPG11 Charcot-Marie-Tooth disease",
          "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X",
          "Charcot-Marie-Tooth disease, axonal, type 2X",
          "Charcot-Marie-Tooth neuropathy, type 2X",
          "autosomal recessive Charcot Marie Tooth disease type 2X",
          "autosomal recessive Charcot-Marie-Tooth disease type 2X"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014726"
    },
    {
      "id": 15727,
      "label": "Charcot-Marie-Tooth disease type 2Y",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110168",
          "GARD:0017714",
          "MEDGEN:1800449",
          "NCIT:C168974",
          "OMIM:616687",
          "Orphanet:435387",
          "UMLS:C5569026"
        ],
        "synonyms": [
          "CMT2 due to VCP mutation",
          "CMT2Y",
          "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP",
          "Charcot-Marie-Tooth disease, axonal, type 2y",
          "Charcot-Marie-Tooth disease, type 2Y",
          "VCP Charcot-Marie-Tooth disease type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y",
          "Charcot-Marie-Tooth disease, axonal, type 2Y",
          "Charcot-Marie-Tooth neuropathy, type 2Y",
          "autosomal dominant Charcot-Marie-Tooth disease type 2Y"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014735"
    },
    {
      "id": 15728,
      "label": "Charcot-Marie-Tooth disease axonal type 2Z",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110181",
          "GARD:0017829",
          "MEDGEN:1800448",
          "OMIM:616688",
          "Orphanet:466768",
          "UMLS:C5569025"
        ],
        "synonyms": [
          "CMT2Z",
          "Charcot-Marie-Tooth disease caused by mutation in MORC2",
          "Charcot-Marie-Tooth disease, axonal, type 2z",
          "MORC2 Charcot-Marie-Tooth disease",
          "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z",
          "Charcot-Marie-Tooth disease, axonal, type 2Z",
          "Charcot-Marie-Tooth neuropathy, type 2Z",
          "autosomal dominant Charcot-Marie-Tooth disease type 2Z"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014736"
    },
    {
      "id": 15820,
      "label": "Charcot-Marie-Tooth disease axonal type 2CC",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110180",
          "GARD:0025022",
          "MEDGEN:934757",
          "OMIM:616924",
          "UMLS:C4310790"
        ],
        "synonyms": [
          "CMT2CC",
          "Charcot-Marie-Tooth disease axonal type 2CC",
          "Charcot-Marie-Tooth disease caused by mutation in NEFH",
          "Charcot-Marie-Tooth disease, axonal, type 2cc",
          "NEFH Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth disease, axonal, type 2CC",
          "Charcot-Marie-Tooth neuropathy, type 2Cc"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014836"
    },
    {
      "id": 15848,
      "label": "Charcot-Marie-Tooth disease axonal type 2T",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110160",
          "GARD:0018653",
          "MEDGEN:864072",
          "OMIM:616233",
          "OMIM:617017",
          "Orphanet:443950",
          "UMLS:C4015635"
        ],
        "synonyms": [
          "CMT2T",
          "Charcot-Marie-Tooth disease, axonal, type 2T",
          "DNAJB2-related CMT2",
          "AR-CMT2T",
          "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T",
          "Charcot-Marie-Tooth neuropathy, type 2T",
          "DNAJB2-related Charcot-Marie-Tooth disease type 2",
          "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014866"
    },
    {
      "id": 16945,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2M",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12764,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017147",
          "MEDGEN:930341",
          "Orphanet:228179",
          "SCTID:719514002",
          "UMLS:C4304672",
          "icd11.foundation:1601555981"
        ],
        "synonyms": [
          "CMT2M"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016431"
    },
    {
      "id": 16965,
      "label": "Charcot-Marie-Tooth disease type 2B5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017153",
          "MEDGEN:1668955",
          "Orphanet:228374",
          "UMLS:C4749824",
          "icd11.foundation:1603286685"
        ],
        "synonyms": [
          "AR-CMT2B5",
          "Charcot-Marie-Tooth disease type 2B5",
          "SEOAN due to NEFL deficiency",
          "autosomal recessive Charcot-Marie-Tooth disease type 2B5",
          "severe early-onset axonal neuropathy due to NEFL deficiency",
          "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016454"
    },
    {
      "id": 18139,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909,
        24348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021447",
          "MEDGEN:1633598",
          "Orphanet:324611",
          "SCTID:764730007",
          "UMLS:C4707173"
        ],
        "synonyms": [
          "CMT2 due to KIF5A mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017940"
    },
    {
      "id": 18577,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12571,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021815",
          "MEDGEN:1800451",
          "Orphanet:435819",
          "UMLS:C5569028"
        ],
        "synonyms": [
          "CMT2 due to TFG mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018567"
    },
    {
      "id": 20000,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2K",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009199",
          "MEDGEN:334294",
          "NCIT:C133886",
          "Orphanet:99944",
          "SCTID:719512003",
          "UMLS:C1842984"
        ],
        "synonyms": [
          "CMT2K",
          "Charcot-Marie-Tooth disease type 2K"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020558"
    },
    {
      "id": 22390,
      "label": "Charcot-Marie-Tooth disease, axonal, type 2EE",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111559",
          "GARD:0025730",
          "MEDGEN:1677426",
          "OMIM:618400",
          "UMLS:C5193076"
        ],
        "synonyms": [
          "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE",
          "CMT2EE",
          "Charcot-Marie-Tooth Neuropathy, Type 2Ee"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032728"
    },
    {
      "id": 23359,
      "label": "autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021999",
          "MEDGEN:1798938",
          "Orphanet:487814",
          "UMLS:C5567515"
        ],
        "synonyms": [
          "CMT2 due to DGAT2 mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044625"
    },
    {
      "id": 23371,
      "label": "Charcot-Marie-Tooth disease type 2T",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017909",
          "Orphanet:495274"
        ],
        "synonyms": [
          "AR-CMT2T",
          "CMT2T",
          "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044640"
    },
    {
      "id": 23383,
      "label": "MME-related autosomal dominant Charcot Marie Tooth disease type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017916",
          "MEDGEN:1798873",
          "Orphanet:497757",
          "UMLS:C5567450"
        ],
        "synonyms": [
          "MME-related autosomal dominant CMT2",
          "MME-related autosomal dominant hereditary motor and sensory neuropathy type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044657"
    },
    {
      "id": 23637,
      "label": "Charcot-Marie-tooth disease, axonal, type 2DD",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111558",
          "GARD:0017959",
          "MEDGEN:1648475",
          "OMIM:618036",
          "Orphanet:521414",
          "UMLS:C4747974"
        ],
        "synonyms": [
          "CMT2DD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054833"
    }
  ],
  "roots": [
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    }
  ]
}