{
  "id": 18910,
  "label": "Charcot-Marie-Tooth disease type X",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018994",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": 11637,
      "label": "Charcot-Marie-Tooth disease X-linked dominant 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18910
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110207",
          "GARD:0012445",
          "MEDGEN:813032",
          "OMIM:300905",
          "Orphanet:352675",
          "SCTID:763347000",
          "UMLS:C3806702"
        ],
        "synonyms": [
          "CMTX6",
          "Charcot-Marie-Tooth disease X-linked dominant type 6",
          "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant",
          "Charcot-Marie-Tooth disease, X-linked dominant, type 6",
          "X-linked Charcot-Marie-Tooth disease type 6",
          "CMT6X",
          "Charcot-Marie-Tooth disease, X-linked dominant, 6",
          "Charcot-Marie-Tooth neuropathy, X-linked dominant, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010479"
    },
    {
      "id": 11704,
      "label": "Charcot-Marie-Tooth disease X-linked dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18910
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110209",
          "GARD:0001258",
          "MEDGEN:337104",
          "MEDGEN:98290",
          "MESH:C564446",
          "NCIT:C129068",
          "OMIM:302800",
          "OMIM:302900",
          "Orphanet:101075",
          "SCTID:763455008",
          "UMLS:C0393808",
          "UMLS:C1844863"
        ],
        "synonyms": [
          "CMT1X",
          "CMT2",
          "CMT2, formerly",
          "CMTX",
          "CMTX 1",
          "CMTX1",
          "Charcot Marie Tooth disease X-linked 1",
          "Charcot-Marie-Tooth disease X-linked dominant 1",
          "Charcot-Marie-Tooth disease X-linked dominant type 1",
          "Charcot-Marie-Tooth disease type X caused by mutation in GJB1",
          "Charcot-Marie-Tooth disease, X-linked dominant, 1",
          "Charcot-Marie-Tooth disease, X-linked dominant, type 1",
          "Charcot-Marie-Tooth disease, X-linked, 1",
          "Charcot-Marie-Tooth neuropathy X type 1",
          "Charcot-Marie-Tooth neuropathy, X-linked, 1",
          "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined",
          "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked",
          "GJB1 Charcot-Marie-Tooth disease type X",
          "HMSN, X-linked",
          "X-linked Charcot-Marie-Tooth disease type 1",
          "hereditary motor and sensory neuropathy, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010549"
    },
    {
      "id": 11705,
      "label": "Charcot-Marie-Tooth disease X-linked recessive 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18910
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110208",
          "GARD:0001243",
          "MEDGEN:336803",
          "MESH:C535302",
          "OMIM:302801",
          "Orphanet:101076",
          "SCTID:763457000",
          "UMLS:C1844873"
        ],
        "synonyms": [
          "CMTX 2",
          "CMTX2",
          "Charcot Marie Tooth disease X-linked recessive 2",
          "Charcot-Marie-Tooth disease X-linked recessive type 2",
          "Charcot-Marie-Tooth disease, X-linked recessive, 2",
          "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2",
          "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive",
          "X-linked Charcot-Marie-Tooth disease type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010550"
    },
    {
      "id": 11706,
      "label": "Charcot-Marie-Tooth disease X-linked recessive 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18910
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110211",
          "GARD:0001244",
          "MEDGEN:375530",
          "MESH:C535303",
          "OMIM:302802",
          "Orphanet:101077",
          "SCTID:763458005",
          "UMLS:C1844865"
        ],
        "synonyms": [
          "CMT3X",
          "CMTX 3",
          "CMTX3",
          "Charcot Marie Tooth disease X-linked recessive 3",
          "Charcot-Marie-Tooth disease X-linked recessive type 3",
          "Charcot-Marie-Tooth disease, X-linked recessive, 3",
          "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3",
          "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive",
          "X-linked Charcot-Marie-Tooth disease type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010551"
    },
    {
      "id": 11833,
      "label": "Charcot-Marie-Tooth disease X-linked recessive 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18910
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110212",
          "GARD:0001240",
          "MEDGEN:162891",
          "OMIM:310490",
          "Orphanet:101078",
          "SCTID:763400005",
          "UMLS:C0795910"
        ],
        "synonyms": [
          "CMT4X",
          "CMTX 4",
          "CMTX4",
          "COWCK",
          "Charcot-Marie-Tooth disease X-linked recessive type 4",
          "Charcot-Marie-Tooth disease with deafness and intellectual disability",
          "Charcot-Marie-Tooth disease with deafness and mental retardation",
          "Charcot-Marie-Tooth disease, X-linked recessive, 4",
          "Cowchock syndrome, X-linked recessive",
          "NADMR",
          "NAMSD",
          "X-linked Charcot-Marie-Tooth disease type 4",
          "axonal motor sensory neuropathy with deafness and intellectual disability",
          "cowchock syndrome",
          "neuropathy, axonal motor-sensory with deafness and intellectual disability",
          "neuropathy, axonal motor-sensory with deafness and mental retardation",
          "neuropathy, axonal motor-sensory, with deafness and intellectual disability",
          "neuropathy, axonal motor-sensory, with deafness and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010689"
    },
    {
      "id": 11843,
      "label": "Charcot-Marie-Tooth disease X-linked recessive 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18910,
        19100
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110210",
          "GARD:0000114",
          "MEDGEN:374254",
          "NORD:1677",
          "OMIM:311070",
          "Orphanet:99014",
          "SCTID:763460007",
          "UMLS:C1839566"
        ],
        "synonyms": [
          "CMT5X",
          "CMTX5",
          "Charcot-Marie-Tooth disease X-linked recessive type 5",
          "Charcot-Marie-Tooth disease, X-linked recessive, 5",
          "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive",
          "Charcot-Marie-Tooth disease, X-linked recessive, type 5",
          "Charcot-Marie-Tooth neuropathy X type 5",
          "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5",
          "Rosenberg Chutorian Syndrome",
          "Rosenberg-Chutorian syndrome",
          "X-linked Charcot-Marie-Tooth disease type 5",
          "familial opticoacoustic nerve degeneration and polyneuropathy",
          "optic atrophy, polyneuropathy, and deafness",
          "optic atrophy, sensorineural hearing loss and polyneuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010699"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    }
  ]
}