{
  "id": 18403,
  "label": "Griscelli syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018306",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18283,
        19141,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021125",
          "MEDGEN:1843078",
          "Orphanet:284811",
          "UMLS:C5681016"
        ],
        "synonyms": [
          "syndrome associated with oculocutaneous albinism",
          "syndromic oculocutaneous albinism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A oculocutaneous albinism that is part of a larger syndrome."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017305"
    }
  ],
  "children": [
    {
      "id": 10220,
      "label": "Griscelli syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18403,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008962"
    },
    {
      "id": 12951,
      "label": "Griscelli syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16076,
        16355,
        18403
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060833",
          "GARD:0004483",
          "MEDGEN:357030",
          "MESH:C537302",
          "NANDO:2200732",
          "NCIT:C111814",
          "OMIM:607624",
          "Orphanet:79477",
          "UMLS:C1868679",
          "icd11.foundation:1836541365"
        ],
        "synonyms": [
          "GS2",
          "Griscelli syndrome type 2",
          "Griscelli syndrome with hemophagocytic syndrome",
          "Griscelli-PruniC)ras syndrome type 2",
          "Griscelli-Pruniéras syndrome type 2",
          "Griscelli-Pruni��ras syndrome type 2",
          "PAID syndrome",
          "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome",
          "partial albinism and immunodeficiency syndrome",
          "Griscelli disease type 2",
          "Griscelli syndrome, type 2",
          "Paid syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011872"
    },
    {
      "id": 13281,
      "label": "Griscelli syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18403
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012220"
    }
  ],
  "roots": [
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism"
    }
  ]
}