{
  "id": 11843,
  "label": "Charcot-Marie-Tooth disease X-linked recessive 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010699",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18910,
      "label": "Charcot-Marie-Tooth disease type X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16413
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018994"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018965",
          "MedDRA:10061476",
          "Orphanet:79191",
          "icd11.foundation:1958565793"
        ],
        "synonyms": [
          "inborn error of purine nucleobase metabolic process",
          "inborn purine nucleobase metabolic process disorder",
          "rare inborn error of purine nucleobase metabolic process",
          "disorder of purine metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process."
      },
      "child_count": 32,
      "reference_id": "MONDO:0019236"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18910,
      "label": "Charcot-Marie-Tooth disease type X"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism"
    }
  ]
}