{
  "id": 18286,
  "label": "temperature-sensitive oculocutaneous albinism type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018137",
  "properties": {
    "xrefs": [
      "GARD:0017530",
      "MEDGEN:337736",
      "Orphanet:352737",
      "UMLS:C1847132"
    ],
    "synonyms": [
      "OCA1-TS",
      "TS OCA type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18284,
      "label": "oculocutaneous albinism type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17628,
        18837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004037",
          "MEDGEN:82809",
          "MESH:C537728",
          "Orphanet:352731",
          "SCTID:765146000",
          "UMLS:C0268494"
        ],
        "synonyms": [
          "OCA1",
          "oculocutaneous albinism type 1",
          "ATN",
          "oculocutaneous albinism, tyrosinase negative"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018135"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18284,
      "label": "oculocutaneous albinism type 1"
    }
  ]
}