{
  "id": 10221,
  "label": "Chediak-Higashi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008963",
  "properties": {
    "xrefs": [
      "DOID:2935",
      "GARD:0006035",
      "ICD10CM:E70.330",
      "MEDGEN:3347",
      "MESH:D002609",
      "MedDRA:10008415",
      "NANDO:1200350",
      "NANDO:1200639",
      "NANDO:2200724",
      "NCIT:C2941",
      "NORD:921",
      "OMIM:214500",
      "Orphanet:167",
      "SCTID:111396008",
      "UMLS:C0007965"
    ],
    "synonyms": [
      "CHS",
      "ChC)diak-Higashi disease",
      "ChC)diak-Higashi-Steinbrink syndrome",
      "Chediak Higashi Syndrome",
      "Chediak Higashi syndrome",
      "Chediak-Higashi syndrome",
      "Chédiak-Higashi disease",
      "Chédiak-Higashi syndrome",
      "Chédiak-Higashi-Steinbrink syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 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"
    },
    {
      "id": 17972,
      "label": "disorder of lysosomal-related organelles",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021334",
          "MEDGEN:1826110",
          "Orphanet:309340",
          "UMLS:C5681043"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017739"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis"
    },
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism"
    },
    {
      "id": 17972,
      "label": "disorder of lysosomal-related organelles"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}