{
  "id": 19208,
  "label": "CAMOS syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019374",
  "properties": {
    "xrefs": [
      "GARD:0009977",
      "MEDGEN:1387501",
      "OMIM:606937",
      "Orphanet:83472",
      "SCTID:726031001",
      "UMLS:C4511633"
    ],
    "synonyms": [
      "SCAR5",
      "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome",
      "CAMOS",
      "cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities",
      "cerebellar ataxia with mental retardation optic atrophy and skin abnormalities",
      "spinocerebellar ataxia autosomal recessive 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19711,
      "label": "autosomal recessive congenital cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019412",
          "MEDGEN:1843070",
          "Orphanet:98095",
          "UMLS:C5681519"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020043"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19711,
      "label": "autosomal recessive congenital cerebellar ataxia"
    }
  ]
}