{
  "id": 6005,
  "label": "axonal neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0004183",
  "properties": {
    "xrefs": [
      "DOID:7319",
      "GARD:0023865",
      "MEDGEN:266071",
      "NCIT:C27301",
      "SCTID:60703000",
      "UMLS:C1263857"
    ],
    "synonyms": [
      "axon peripheral neuropathy",
      "axonal neuropathy",
      "peripheral neuropathy of axon"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any nerve disorder affecting the axon of a nerve."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6950,
      "label": "peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5512,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:870",
          "EFO:0003100",
          "MEDGEN:18386",
          "MedDRA:10034606",
          "NCIT:C119734",
          "NCIT:C4731",
          "SCTID:302226006",
          "SCTID:386033004",
          "UMLS:C0031117"
        ],
        "synonyms": [
          "neuropathy",
          "peripheral nerve disorder",
          "peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005244"
    }
  ],
  "children": [
    {
      "id": 2734,
      "label": "giant axonal neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6005,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022713",
          "ICD9:349.89",
          "MEDGEN:1684765",
          "MESH:D056768",
          "NCIT:C84728",
          "NORD:1182",
          "OMIMPS:256850",
          "SCTID:128207002",
          "UMLS:C5200933",
          "icd11.foundation:1848636316"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000128"
    },
    {
      "id": 17430,
      "label": "infantile axonal neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6005,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:2679"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017047"
    },
    {
      "id": 22765,
      "label": "congenital axonal neuropathy with encephalopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        6005
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022218",
          "MEDGEN:1814475",
          "Orphanet:538101",
          "UMLS:C5681314"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0034041"
    }
  ],
  "roots": [
    {
      "id": 6950,
      "label": "peripheral neuropathy"
    }
  ]
}