{
  "id": 14055,
  "label": "leukocyte adhesion deficiency 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013016",
  "properties": {
    "xrefs": [
      "DOID:0110912",
      "GARD:0016915",
      "MEDGEN:411605",
      "MESH:C567555",
      "OMIM:612840",
      "Orphanet:99844",
      "UMLS:C2748536"
    ],
    "synonyms": [
      "FERMT3 leukocyte adhesion deficiency",
      "IADD",
      "LAD-III",
      "LAD1V",
      "LAD3",
      "integrin activation deficiency disease",
      "lad-1 variant",
      "lad-III",
      "leukocyte adhesion deficiency 1 variant",
      "leukocyte adhesion deficiency 3",
      "leukocyte adhesion deficiency caused by mutation in FERMT3",
      "leukocyte adhesion deficiency type 3",
      "leukocyte adhesion deficiency type III",
      "leukocyte adhesion deficiency-1 variant",
      "integrin Activation deficiency disease",
      "leukocyte adhesion deficiency, type 3",
      "leukocyte adhesion deficiency, type III"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17851,
      "label": "leukocyte adhesion deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16630
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6612",
          "GARD:0016616",
          "MEDGEN:124419",
          "NANDO:1200355",
          "NANDO:2200755",
          "NCIT:C27874",
          "Orphanet:2968",
          "SCTID:77358003",
          "UMLS:C0272187",
          "icd11.foundation:317341989"
        ],
        "synonyms": [
          "LAD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017570"
    },
    {
      "id": 18939,
      "label": "autosomal recessive osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17540,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015012",
          "MEDGEN:1385510",
          "NCIT:C129733",
          "OMIMPS:259700",
          "Orphanet:667",
          "SCTID:367489004",
          "UMLS:C4272578"
        ],
        "synonyms": [
          "OPTB",
          "autosomal recessive malignant osteopetrosis",
          "autosomal recessive osteopetrosis",
          "autosomal recessive osteopetrosis (disease)",
          "infantile malignant osteopetrosis",
          "osteopetrosis (disease), autosomal recessive",
          "malignant osteopetrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019026"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17851,
      "label": "leukocyte adhesion deficiency"
    },
    {
      "id": 18939,
      "label": "autosomal recessive osteopetrosis"
    }
  ]
}