{
  "id": 10220,
  "label": "Griscelli syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008962",
  "properties": {
    "xrefs": [
      "DOID:0060832",
      "GARD:0002566",
      "MEDGEN:347092",
      "MESH:C537301",
      "OMIM:214450",
      "Orphanet:79476",
      "UMLS:C1859194",
      "icd11.foundation:875700770"
    ],
    "synonyms": [
      "GS1",
      "Griscelli syndrome type 1",
      "Griscelli-PruniC)ras syndrome type 1",
      "Griscelli-Pruniéras syndrome type 1",
      "hypopigmentation-neurologic impairment syndrome",
      "Griscelli disease type 1",
      "Griscelli syndrome with neurologic impairment",
      "Griscelli syndrome, cutaneous and neurologic type",
      "Griscelli syndrome, type 1",
      "partial albinism and primary neurologic disease without hemophagocytic syndrome",
      "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2."
  },
  "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"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18403,
      "label": "Griscelli syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}