{
  "id": 10642,
  "label": "autoimmune polyendocrine syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009411",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7151,
      "label": "adrenal gland disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9553",
          "EFO:0005539",
          "ICD9:255",
          "ICD9:255.8",
          "ICD9:255.9",
          "MEDGEN:892577",
          "MESH:D000307",
          "NCIT:C26690",
          "SCTID:30171000",
          "UMLS:C4021794"
        ],
        "synonyms": [
          "adrenal gland disease",
          "adrenal gland disease or disorder",
          "adrenal gland diseases",
          "adrenal gland disorder",
          "adrenal gland disorders",
          "disease of adrenal gland",
          "disease or disorder of adrenal gland",
          "disorder of adrenal gland"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the adrenal gland."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005495"
    },
    {
      "id": 16764,
      "label": "hereditary hypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3460,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020407",
          "MEDGEN:1842344",
          "Orphanet:208593",
          "UMLS:C5680825"
        ],
        "synonyms": [
          "genetic hypoparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016165"
    },
    {
      "id": 17602,
      "label": "autoimmune polyendocrinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2997,
        4370,
        16071
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017278"
    },
    {
      "id": 18365,
      "label": "autoimmune hypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2997,
        3460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018824",
          "HP:0011771",
          "MEDGEN:488838",
          "Orphanet:36913",
          "SCTID:75316000",
          "UMLS:C0271865",
          "icd11.foundation:1790437089"
        ],
        "synonyms": [
          "autoimmune hypoparathyroidism",
          "autoimmune hypoparathyroidism (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autoimmune form of hypoparathyroidism."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018242"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7151,
      "label": "adrenal gland disorder"
    },
    {
      "id": 16764,
      "label": "hereditary hypoparathyroidism"
    },
    {
      "id": 17602,
      "label": "autoimmune polyendocrinopathy"
    },
    {
      "id": 18365,
      "label": "autoimmune hypoparathyroidism"
    }
  ]
}