{
  "id": 3178,
  "label": "agenesis of the corpus callosum with peripheral neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000902",
  "properties": {
    "xrefs": [
      "DOID:0060600",
      "DOID:0090003",
      "GARD:0001537",
      "MEDGEN:162893",
      "MESH:C536446",
      "OMIM:218000",
      "Orphanet:1496",
      "SCTID:702439002",
      "UMLS:C0795950",
      "icd11.foundation:1443432032"
    ],
    "synonyms": [
      "Andermann syndrome",
      "Charlevoix disease",
      "agenesis of the corpus callosum with peripheral neuropathy",
      "corpus callosum agenesis-neuronopathy syndrome",
      "hereditary motor and sensory neuropathy with agenesis of the corpus callosum",
      "peripheral neuropathy associated with agenesis of the corpus callosum",
      "ACCPN",
      "HMSN/ACC",
      "agenesis of corpus callosum with neuronopathy",
      "agenesis of corpus callosum with peripheral neuropathy",
      "agenesis of corpus callosum with polyneuropathy",
      "corpus callosum agenesis neuronopathy",
      "corpus callosum, agenesis of, with neuronopathy",
      "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}