{
  "id": 13281,
  "label": "Griscelli syndrome type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012220",
  "properties": {
    "xrefs": [
      "DOID:0060834",
      "GARD:0009715",
      "MEDGEN:373124",
      "MESH:C537303",
      "OMIM:609227",
      "Orphanet:79478",
      "UMLS:C1836573",
      "icd11.foundation:1959052636"
    ],
    "synonyms": [
      "GS3",
      "Griscelli syndrome type 3",
      "Griscelli-PruniC)ras syndrome type 3",
      "Griscelli-Pruniéras syndrome type 3",
      "Griscelli-Pruni��ras syndrome type 3",
      "Griscelli disease type 3",
      "Griscelli syndrome, type 3",
      "hypomelanosis with no immunologic or neurologic manifestations"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18403,
      "label": "Griscelli syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060831",
          "GARD:0010913",
          "ICD9:270.2",
          "MEDGEN:585090",
          "NANDO:1200640",
          "OMIMPS:214450",
          "Orphanet:381",
          "SCTID:37548006",
          "UMLS:C0398794"
        ],
        "synonyms": [
          "ChC)diak-Higashi-like syndrome",
          "Chédiak-Higashi-like syndrome",
          "Ch��diak-Higashi-like syndrome",
          "Griscelli-PruniC)ras syndrome",
          "Griscelli-Pruniéras syndrome",
          "Griscelli-Pruni��ras syndrome",
          "partial albinism-immunodeficiency syndrome",
          "Griscelli disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018306"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18403,
      "label": "Griscelli syndrome"
    }
  ]
}