{
  "id": 15310,
  "label": "deficiency of adenosine deaminase 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014306",
  "properties": {
    "xrefs": [
      "GARD:0012383",
      "MEDGEN:854497",
      "NANDO:1200995",
      "NANDO:2200441",
      "NANDO:2200450",
      "OMIM:615688",
      "Orphanet:404553",
      "UMLS:C3887654"
    ],
    "synonyms": [
      "ADA2 deficiency",
      "DADA2",
      "adenosine deaminase 2 deficiency",
      "childhood-onset polyarteritis nodosa",
      "deficiency of adenosine deaminase 2",
      "polyarteritis nodosa, childhood-onset",
      "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome",
      "PAN"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18813,
      "label": "vasculitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7065,
        20399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:865",
          "EFO:0006803",
          "GARD:0018844",
          "MEDGEN:12054",
          "MESH:D014657",
          "MedDRA:10036023",
          "MedDRA:10047115",
          "NCIT:C26912",
          "Orphanet:52759",
          "SCTID:31996006",
          "UMLS:C0042384",
          "Wikipedia:Vasculitis",
          "icd11.foundation:572581721"
        ],
        "synonyms": [
          "systemic vasculitis",
          "angiitis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease."
      },
      "child_count": 36,
      "reference_id": "MONDO:0018882"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24659,
        25593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021986",
          "MEDGEN:1843010",
          "Orphanet:481671",
          "UMLS:C5681250"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A type 1 interferonopathy that occurs during childhood."
      },
      "child_count": 24,
      "reference_id": "MONDO:0957408"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18813,
      "label": "vasculitis"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}