{
  "id": 17602,
  "label": "autoimmune polyendocrinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017278",
  "properties": {
    "xrefs": [
      "DOID:14040",
      "GARD:0021116",
      "ICD10CM:E31.0",
      "ICD9:258.8",
      "MEDGEN:39042",
      "NANDO:2100125",
      "NCIT:C129726",
      "NCIT:C84576",
      "NORD:790",
      "Orphanet:282196",
      "SCTID:41864002",
      "UMLS:C0085409",
      "icd11.foundation:548357900"
    ],
    "synonyms": [
      "APS",
      "Antiphospholipid Syndrome",
      "autoimmune polyendocrine syndrome",
      "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome",
      "autoimmune polyendocrinopathy",
      "autoimmune polyendocrinopathy syndrome",
      "autoimmune polyglandular failure",
      "autoimmune polyglandular syndrome",
      "autoimmune polyglandular syndrome(s)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2997,
      "label": "autoimmune disorder of endocrine system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060005",
          "ICD9:279.49",
          "MEDGEN:575099",
          "SCTID:237822008",
          "UMLS:C0342552"
        ],
        "synonyms": [
          "endocrine system autoimmune disease",
          "endocrine system hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A hypersensitivity reaction type II disease that involves the endocrine system."
      },
      "child_count": 26,
      "reference_id": "MONDO:0000569"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16071,
      "label": "polyendocrinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019800",
          "MEDGEN:1826133",
          "Orphanet:101956",
          "UMLS:C5681797"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0015126"
    }
  ],
  "children": [
    {
      "id": 10642,
      "label": "autoimmune polyendocrine syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7151,
        16764,
        17602,
        18365
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050167",
          "GARD:0008466",
          "ICD9:258.8",
          "MEDGEN:39125",
          "NANDO:2200346",
          "NANDO:2200738",
          "NCIT:C129727",
          "NORD:798",
          "OMIM:240300",
          "Orphanet:3453",
          "SCTID:11244009",
          "UMLS:C0085859"
        ],
        "synonyms": [
          "AIRE autoimmune polyendocrinopathy",
          "APECED syndrome",
          "APS type 1",
          "APS1",
          "Autoimmune Polyglandular Syndrome Type 1",
          "MEDAC syndrome",
          "Whitaker syndrom",
          "aire autoimmune polyendocrinopathy",
          "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome",
          "autoimmune polyendocrine syndrome type 1",
          "autoimmune polyendocrinopathy caused by mutation in AIRE",
          "autoimmune polyendocrinopathy caused by mutation in aire",
          "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia",
          "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy",
          "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome",
          "autoimmune polyglandular syndrome type 1",
          "ham syndrome",
          "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome",
          "multiple endocrine deficiency-Addison disease-candidiasis syndrome",
          "polyglandular autoimmune syndrome type 1",
          "APS 1",
          "PGA 1",
          "Whitaker syndrome",
          "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia",
          "autoimmune polyendocrinopathy syndrome type 1",
          "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant",
          "autoimmune polyendocrinopathy type 1",
          "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)",
          "autoimmune polyglandular syndrome, type 1",
          "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis",
          "polyglandular autoimmune syndrome, type 1",
          "polyglandular deficiency syndrome, Persian-Jewish type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009411"
    },
    {
      "id": 11206,
      "label": "autoimmune polyendocrinopathy type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050168",
          "GARD:0007611",
          "ICD9:258.8",
          "MEDGEN:39126",
          "NANDO:2200347",
          "NCIT:C129728",
          "NORD:824",
          "OMIM:269200",
          "Orphanet:3143",
          "SCTID:83728000",
          "UMLS:C0085860",
          "icd11.foundation:1065249344"
        ],
        "synonyms": [
          "APS type 2",
          "APS2",
          "Autoimmune Polyendocrine Syndrome Type II",
          "Schmidt syndrome",
          "autoimmune polyendocrine syndrome type 2",
          "autoimmune polyglandular syndrome type 2",
          "autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome",
          "APS 2",
          "PGA 2",
          "Schmidt's syndrome",
          "autoimmune polyendocrine syndrome, type II",
          "diabetes mellitus, Addison disease, myxedema",
          "diabetes mellitus, Addison's disease, myxedema",
          "multiple endocrine deficiency syndrome, type 2",
          "polyendocrine autoimmune syndrome, type 2",
          "polyglandular autoimmune syndrome, type 2",
          "polyglandular deficiency syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010012"
    },
    {
      "id": 16938,
      "label": "autoimmune polyendocrinopathy type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010980",
          "ICD9:258.1",
          "MEDGEN:453060",
          "Orphanet:227982",
          "SCTID:449731009",
          "UMLS:C1535942",
          "icd11.foundation:1361747293"
        ],
        "synonyms": [
          "APS type 3",
          "APS3",
          "autoimmune polyendocrine syndrome type 3",
          "autoimmune polyglandular syndrome type 3",
          "PAS3",
          "polyglandular autoimmune syndrome type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016422"
    },
    {
      "id": 16939,
      "label": "autoimmune polyendocrinopathy type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020567",
          "ICD9:258.1",
          "MEDGEN:757804",
          "Orphanet:227990",
          "SCTID:449730005",
          "UMLS:C3266026",
          "icd11.foundation:1561026337"
        ],
        "synonyms": [
          "APS type 4",
          "APS4",
          "autoimmune polyendocrine syndrome type 4",
          "autoimmune polyglandular syndrome type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016423"
    }
  ],
  "roots": [
    {
      "id": 2997,
      "label": "autoimmune disorder of endocrine system"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16071,
      "label": "polyendocrinopathy"
    }
  ]
}