{
  "id": 10731,
  "label": "specific granule deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009506",
  "properties": {
    "xrefs": [
      "GARD:0010778",
      "MEDGEN:140766",
      "MESH:C562873",
      "OMIMPS:245480",
      "Orphanet:169142",
      "SCTID:234587000",
      "UMLS:C0398593"
    ],
    "synonyms": [
      "neutrophil-specific granule deficiency",
      "recurrent infection due to specific granule deficiency",
      "specific granule deficiency",
      "SGD",
      "lactoferrin-deficient neutrophils",
      "neutrophil lactoferrin deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16630,
      "label": "functional neutrophil defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020321",
          "MEDGEN:1863601",
          "Orphanet:183681",
          "SCTID:105600002",
          "UMLS:C5924997",
          "icd11.foundation:808756909"
        ],
        "synonyms": [
          "neutrophil disease",
          "neutrophilopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0015978"
    },
    {
      "id": 21540,
      "label": "defective phagocytic cell engulfment",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:585050",
          "SCTID:234585008",
          "UMLS:C0398742"
        ],
        "synonyms": [
          "defective phagocytic cell killing"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0024626"
    }
  ],
  "children": [
    {
      "id": 23296,
      "label": "specific granule deficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025882",
          "MEDGEN:1644049",
          "OMIM:245480",
          "UMLS:C4551556"
        ],
        "synonyms": [
          "specific granule deficiency",
          "CEBPE specific granule deficiency",
          "specific granule deficiency 1",
          "specific granule deficiency caused by mutation in CEBPE",
          "SGD1",
          "lactoferrin-deficient neutrophils",
          "neutrophil lactoferrin deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044207"
    },
    {
      "id": 23297,
      "label": "specific granule deficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025883",
          "MEDGEN:1371952",
          "OMIM:617475",
          "UMLS:C4479548"
        ],
        "synonyms": [
          "specific granule deficiency 2",
          "SGD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044208"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16630,
      "label": "functional neutrophil defect"
    },
    {
      "id": 21540,
      "label": "defective phagocytic cell engulfment"
    }
  ]
}