{
  "id": 18168,
  "label": "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017992",
  "properties": {
    "xrefs": [
      "GARD:0017494",
      "MEDGEN:1720168",
      "Orphanet:329173",
      "UMLS:C5394674"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082,
        19107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050728",
          "DOID:2747",
          "GARD:0018973",
          "ICD10CM:E74.0",
          "ICD9:271.0",
          "MEDGEN:6639",
          "MESH:D006008",
          "MedDRA:10061990",
          "NANDO:1200838",
          "NCIT:C61272",
          "OMIMPS:232200",
          "Orphanet:79201",
          "SCTID:29633007",
          "UMLS:C0017919",
          "icd11.foundation:1187107383"
        ],
        "synonyms": [
          "GSD",
          "glycogen storage disease",
          "glycogen storage disorder",
          "glycogenoses",
          "glycogenosis",
          "inborn error of glycogen metabolic process",
          "inborn glycogen metabolic process disorder",
          "inborn glycogen storage disorder",
          "rare inborn error of glycogen metabolic process"
        ],
        "definition": "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues."
      },
      "child_count": 48,
      "reference_id": "MONDO:0002412"
    },
    {
      "id": 6778,
      "label": "immune system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2914",
          "EFO:0000540",
          "ICD9:279",
          "ICD9:279.1",
          "ICD9:279.10",
          "ICD9:279.19",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:279.8",
          "ICD9:279.9",
          "MEDGEN:5759",
          "MESH:D007154",
          "NANDO:1100004",
          "NANDO:2100202",
          "NCIT:C3507",
          "SCTID:414029004",
          "UMLS:C0021053"
        ],
        "synonyms": [
          "disease of immune system",
          "disease or disorder of immune system",
          "disorder of immune system",
          "immune disease",
          "immune disorder",
          "immune dysfunction",
          "immune system disease or disorder",
          "immune system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from an abnormality in the immune system."
      },
      "child_count": 47,
      "reference_id": "MONDO:0005046"
    },
    {
      "id": 19503,
      "label": "autoinflammatory syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051000",
          "ICD10CM:M04-M04",
          "MEDGEN:855741",
          "MedDRA:10072220",
          "NANDO:2100156",
          "NCIT:C119050",
          "Orphanet:93665",
          "UMLS:C3890737"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease."
      },
      "child_count": 74,
      "reference_id": "MONDO:0019751"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism"
    },
    {
      "id": 6778,
      "label": "immune system disorder"
    },
    {
      "id": 19503,
      "label": "autoinflammatory syndrome"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}