{
  "id": 18911,
  "label": "Charcot-Marie-Tooth disease type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018995",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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": 10219,
      "label": "Charcot-Marie-Tooth disease type 4A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13085,
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110185",
          "GARD:0001252",
          "MEDGEN:347821",
          "MESH:C535419",
          "OMIM:214400",
          "Orphanet:99948",
          "SCTID:715796006",
          "UMLS:C1859198",
          "icd11.foundation:1476665103"
        ],
        "synonyms": [
          "CMT4A",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1",
          "GDAP1 Charcot-Marie-Tooth disease type 4",
          "Charcot Marie Tooth disease type 4A",
          "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive",
          "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A",
          "Charcot-Marie-Tooth disease, type 4A",
          "Charcot-Marie-Tooth neuropathy, type 4A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008961"
    },
    {
      "id": 12192,
      "label": "Charcot-Marie-Tooth disease type 4B1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110191",
          "GARD:0001253",
          "MEDGEN:321947",
          "MESH:C535420",
          "OMIM:601382",
          "Orphanet:99955",
          "SCTID:715803003",
          "UMLS:C1832399",
          "icd11.foundation:776238355"
        ],
        "synonyms": [
          "CMT4B1",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2",
          "Charcot-Marie-Tooth disease type 4B1",
          "MTMR2 Charcot-Marie-Tooth disease type 4",
          "CMT 4B",
          "CMT 4B1",
          "Charcot Marie Tooth disease type 4B1",
          "Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1",
          "Charcot-Marie-Tooth disease, type 4B",
          "Charcot-Marie-Tooth disease, type 4B1",
          "Charcot-Marie-Tooth neuropathy, type 4B1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011066"
    },
    {
      "id": 12211,
      "label": "Charcot-Marie-Tooth disease type 4D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110186",
          "GARD:0003973",
          "MEDGEN:371304",
          "MESH:C535716",
          "OMIM:601455",
          "Orphanet:99950",
          "SCTID:715798007",
          "UMLS:C1832334",
          "icd11.foundation:616686295"
        ],
        "synonyms": [
          "CMT4D",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1",
          "Charcot-Marie-Tooth disease type 4D",
          "HMSN, Lom type",
          "HMSN-Lom",
          "HMSN4D",
          "HMSNL",
          "NDRG1 Charcot-Marie-Tooth disease type 4",
          "hereditary motor ABD sensory neuropathy Lom type",
          "hereditary motor and sensory neuropathy, Lom type",
          "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D",
          "Charcot-Marie-Tooth disease, type 4D",
          "Charcot-Marie-Tooth neuropathy, type 4D",
          "NMSL",
          "neuropathy, hereditary motor and sensory, Lom type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011085"
    },
    {
      "id": 12237,
      "label": "Charcot-Marie-Tooth disease type 4C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110183",
          "GARD:0009201",
          "MEDGEN:356581",
          "MESH:C535423",
          "NCIT:C129864",
          "OMIM:601596",
          "Orphanet:99949",
          "SCTID:715797002",
          "UMLS:C1866636",
          "icd11.foundation:382219984"
        ],
        "synonyms": [
          "CMT4C",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2",
          "Charcot-Marie-Tooth disease type 4C",
          "SH3TC2 Charcot-Marie-Tooth disease type 4",
          "CMT 4C",
          "Charcot Marie Tooth disease type 4C",
          "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C",
          "Charcot-Marie-Tooth disease, type 4C",
          "Charcot-Marie-Tooth neuropathy, type 4C"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011113"
    },
    {
      "id": 12577,
      "label": "Charcot-Marie-Tooth disease type 4B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110190",
          "GARD:0009200",
          "MEDGEN:346869",
          "MESH:C535421",
          "OMIM:604563",
          "Orphanet:99956",
          "SCTID:715800000",
          "UMLS:C1858278",
          "icd11.foundation:393759720"
        ],
        "synonyms": [
          "CMT4B2",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2",
          "Charcot-Marie-Tooth disease type 4B2",
          "SBF2 Charcot-Marie-Tooth disease type 4",
          "CMT 4B2",
          "Charcot Marie Tooth disease type 4B2",
          "Charcot-Marie-Tooth disease, type 4B2",
          "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma",
          "Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2",
          "Charcot-Marie-Tooth neuropathy, type 4B2",
          "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011475"
    },
    {
      "id": 12625,
      "label": "Charcot-Marie-Tooth disease type 4E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911,
        22641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110195",
          "GARD:0009203",
          "MEDGEN:1648303",
          "MESH:C535301",
          "NORD:1506",
          "OMIM:605253",
          "Orphanet:99951",
          "SCTID:763135001",
          "UMLS:C4721436",
          "icd11.foundation:225958466"
        ],
        "synonyms": [
          "CMT4E",
          "Charcot-Marie-Tooth disease type 4E",
          "Neuropathy, Congenital Hypomyelination",
          "autosomal recessive congenital hypomyelinating neuropathy",
          "hypomyelinating neuropathy, congenital, 1",
          "CHN",
          "CHN1",
          "CMT 4E",
          "Charcot Marie Tooth disease type 4E",
          "Charcot-Marie-Tooth disease, type 4E",
          "Charcot-Marie-Tooth neuropathy, type 4E",
          "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE",
          "congenital hypomyelinating neuropathy (CHN)",
          "congenital hypomyelination neuropathy",
          "hypomyelination, Severe congenital",
          "neuropathy, congenital hypomyelinating",
          "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive",
          "neuropathy, congenital hypomyelinating, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011527"
    },
    {
      "id": 12632,
      "label": "Charcot-Marie-Tooth disease type 4G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        17928,
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110196",
          "GARD:0010132",
          "MEDGEN:343122",
          "MESH:C535813",
          "OMIM:605285",
          "Orphanet:99953",
          "SCTID:715799004",
          "UMLS:C1854449",
          "icd11.foundation:995395080"
        ],
        "synonyms": [
          "CMT4G",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1",
          "HK1 Charcot-Marie-Tooth disease type 4",
          "HMSNR",
          "hereditary motor and sensory neuropathy, Russe type",
          "Charcot-Marie-Tooth disease, autosomal recessive, type 4G",
          "Charcot-Marie-Tooth disease, type 4G",
          "Charcot-Marie-Tooth neuropathy, type 4G",
          "neuropathy, hereditary motor and sensory, Russe type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011534"
    },
    {
      "id": 13309,
      "label": "Charcot-Marie-Tooth disease type 4H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110192",
          "GARD:0012442",
          "MEDGEN:324487",
          "MESH:C563740",
          "OMIM:609311",
          "Orphanet:99954",
          "SCTID:715802008",
          "UMLS:C1836336",
          "icd11.foundation:214411126"
        ],
        "synonyms": [
          "CMT4H",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4",
          "Charcot-Marie-Tooth disease type 4H",
          "FGD4 Charcot-Marie-Tooth disease type 4",
          "Charcot-Marie-Tooth disease, autosomal recessive, type 4H",
          "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H",
          "Charcot-Marie-Tooth disease, type 4H",
          "Charcot-Marie-Tooth neuropathy, type 4H"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy"
      },
      "child_count": 0,
      "reference_id": "MONDO:0012250"
    },
    {
      "id": 13684,
      "label": "Charcot-Marie-Tooth disease type 4J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110184",
          "GARD:0012443",
          "MEDGEN:370808",
          "MESH:C566984",
          "NCIT:C134954",
          "OMIM:611228",
          "Orphanet:139515",
          "SCTID:720638000",
          "UMLS:C1970011",
          "icd11.foundation:905681283"
        ],
        "synonyms": [
          "CMT4J",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4",
          "FIG4 Charcot-Marie-Tooth disease type 4",
          "Charcot-Marie-Tooth disease, autosomal recessive, type 4J",
          "Charcot-Marie-Tooth disease, type 4J"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012640"
    },
    {
      "id": 14969,
      "label": "Charcot-Marie-Tooth disease type 4F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110193",
          "GARD:0012441",
          "MEDGEN:761704",
          "OMIM:614895",
          "Orphanet:99952",
          "SCTID:715801001",
          "UMLS:C3540453",
          "icd11.foundation:330503211"
        ],
        "synonyms": [
          "CMT4F",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx",
          "Charcot-Marie-Tooth disease, type 4F",
          "PRX Charcot-Marie-Tooth disease type 4",
          "Prx Charcot-Marie-Tooth disease type 4",
          "Charcot-Marie-Tooth disease, demyelinating, type 4F"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013959"
    },
    {
      "id": 15125,
      "label": "Charcot-Marie-Tooth disease type 4B3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110194",
          "GARD:0017578",
          "MEDGEN:811329",
          "OMIM:615284",
          "Orphanet:363981",
          "SCTID:763345008",
          "UMLS:C3695063"
        ],
        "synonyms": [
          "CMT4B3",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1",
          "Charcot-Marie-Tooth disease with focally folded myelin",
          "SBF1 Charcot-Marie-Tooth disease type 4",
          "Charcot-Marie-Tooth disease, type 4B3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014117"
    },
    {
      "id": 15725,
      "label": "Charcot-Marie-Tooth disease type 4K",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        18911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110187",
          "GARD:0017616",
          "MEDGEN:895560",
          "OMIM:616684",
          "Orphanet:391351",
          "SCTID:765047006",
          "UMLS:C4225246"
        ],
        "synonyms": [
          "CMT4K",
          "Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1",
          "Charcot-Marie-Tooth disease type 4K",
          "Charcot-Marie-Tooth disease, type 4k",
          "SURF1 Charcot-Marie-Tooth disease type 4",
          "SURF1-related CMT4",
          "SURF1-related Charcot-Marie-Tooth disease type 4",
          "SURF1-related severe demyelinating Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K",
          "Charcot-Marie-Tooth disease, type 4K",
          "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014733"
    }
  ],
  "roots": [
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    }
  ]
}