{
  "id": 9552,
  "label": "piebald trait-neurologic defects syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008245",
  "properties": {
    "xrefs": [
      "GARD:0005133",
      "MEDGEN:358177",
      "MESH:C536955",
      "OMIM:172850",
      "Orphanet:2885",
      "UMLS:C1868311"
    ],
    "synonyms": [
      "telfer-Sugar-Jaeger syndrome",
      "White forelock and leukoderma with neurological impairment",
      "piebald trait neurologic defects",
      "piebald trait with neurologic defects",
      "telfer Sugar Jaeger syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19141,
      "label": "hypopigmentation of the skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0001010",
          "MEDGEN:102477",
          "MESH:D017496",
          "MedDRA:10040868",
          "Orphanet:79376",
          "UMLS:C0162835"
        ],
        "synonyms": [
          "hypopigmentation of the skin",
          "hypopigmentation of the skin (disease)",
          "hypomelanoses",
          "hypomelanosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019290"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19141,
      "label": "hypopigmentation of the skin"
    }
  ]
}