{
  "id": 12951,
  "label": "Griscelli syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011872",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16076,
      "label": "constitutional neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3689,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019809",
          "MEDGEN:1785816",
          "NCIT:C61242",
          "Orphanet:101987",
          "UMLS:C3805116",
          "icd11.foundation:87096615"
        ],
        "synonyms": [
          "congenital neutropenia",
          "genetic infantile agranulocytosis",
          "infantile genetic agranulocytosis",
          "Kostmann disease",
          "Kostmann neutropenia",
          "Kostmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015134"
    },
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714,
        16354
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006589",
          "ICD9:238.79",
          "MEDGEN:78797",
          "MedDRA:10070904",
          "OMIMPS:267700",
          "Orphanet:540",
          "SCTID:398250003",
          "UMLS:C0272199"
        ],
        "synonyms": [
          "familial hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic syndrome",
          "primary hemophagocytic lymphohistiocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015541"
    },
    {
      "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": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis"
    },
    {
      "id": 18403,
      "label": "Griscelli syndrome"
    }
  ]
}