{
  "id": 13085,
  "label": "Charcot-Marie-Tooth disease recessive intermediate A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012014",
  "properties": {
    "xrefs": [
      "DOID:0110201",
      "GARD:0012453",
      "MEDGEN:334012",
      "MESH:C564256",
      "OMIM:608340",
      "Orphanet:217055",
      "UMLS:C1842197"
    ],
    "synonyms": [
      "CMTRIA",
      "Charcot-Marie-Tooth disease caused by mutation in GDAP1",
      "Charcot-Marie-Tooth disease recessive intermediate type A",
      "Charcot-Marie-Tooth disease, recessive Intermediate type a",
      "GDAP1 Charcot-Marie-Tooth disease",
      "RI-CMT type A",
      "RI-CMTA",
      "autosomal recessive intermediate Charcot-Marie-Tooth disease type A",
      "Charcot-Marie-Tooth disease, recessive intermediate A",
      "Charcot-Marie-Tooth disease, recessive intermediate, A",
      "Charcot-Marie-Tooth neuropathy, recessive Intermediate a",
      "Ri-Cmta"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17439,
      "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012452",
          "MEDGEN:1843095",
          "Orphanet:268337",
          "UMLS:C5679732"
        ],
        "synonyms": [
          "RI-CMT",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease",
          "intermediate Charcot-Marie-Tooth disease, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017058"
    }
  ],
  "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": 12974,
      "label": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13085
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051028",
          "GARD:0024831",
          "MEDGEN:375113",
          "OMIM:607706",
          "UMLS:C1843183"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",
          "CMT2 with vocal cord paresis, autosomal recessive",
          "Charcot-Marie-Tooth disease, type 4A, axonal form",
          "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011898"
    }
  ],
  "roots": [
    {
      "id": 17439,
      "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease"
    }
  ]
}