{
  "id": 12625,
  "label": "Charcot-Marie-Tooth disease type 4E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011527",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050541",
          "GARD:0012440",
          "MEDGEN:905419",
          "Orphanet:64749",
          "SCTID:715795005",
          "UMLS:C4082197"
        ],
        "synonyms": [
          "AR-CMT1",
          "CMT4",
          "autosomal recessive demyelinating Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018995"
    },
    {
      "id": 22641,
      "label": "neuropathy, congenital hypomelinating",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025794",
          "MEDGEN:97965",
          "OMIMPS:605253",
          "UMLS:C0393818"
        ],
        "synonyms": [
          "CHN"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0033352"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4"
    },
    {
      "id": 22641,
      "label": "neuropathy, congenital hypomelinating"
    }
  ]
}