{
  "id": 12632,
  "label": "Charcot-Marie-Tooth disease type 4G",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011534",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4423,
      "label": "motor peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2477",
          "ICD9:356.9",
          "MEDGEN:82885",
          "NCIT:C3500",
          "SCTID:95663000",
          "UMLS:C0271683"
        ],
        "synonyms": [
          "peripheral motor neuropathy",
          "HSMN",
          "HSMN - hereditary sensory and motor neuropathy",
          "hereditary motor and sensory neuropathy",
          "neuropathic muscular atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Inflammation or degeneration of the peripheral motor nerves."
      },
      "child_count": 9,
      "reference_id": "MONDO:0002316"
    },
    {
      "id": 17928,
      "label": "disorder of glycolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17229,
        19082,
        19115
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021306",
          "MEDGEN:1825948",
          "Orphanet:308459",
          "UMLS:C5681073"
        ]
      },
      "child_count": 48,
      "reference_id": "MONDO:0017688"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4423,
      "label": "motor peripheral neuropathy"
    },
    {
      "id": 17928,
      "label": "disorder of glycolysis"
    },
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4"
    }
  ]
}