{
  "id": 16071,
  "label": "polyendocrinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015126",
  "properties": {
    "xrefs": [
      "GARD:0019800",
      "MEDGEN:1826133",
      "Orphanet:101956",
      "UMLS:C5681797"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    }
  ],
  "children": [
    {
      "id": 10139,
      "label": "Bangstad syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000812",
          "ICD9:759.89",
          "MEDGEN:90978",
          "MESH:C537902",
          "OMIM:210740",
          "Orphanet:1227",
          "SCTID:237614004",
          "UMLS:C0342284"
        ],
        "synonyms": [
          "Bangstad syndrome",
          "ataxia-diabetes-goiter-gonadal insufficiency syndrome",
          "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency",
          "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency",
          "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008874"
    },
    {
      "id": 11184,
      "label": "retinohepatoendocrinologic syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004685",
          "MEDGEN:340315",
          "MESH:C564839",
          "OMIM:268040",
          "Orphanet:3087",
          "SCTID:724000006",
          "UMLS:C1849399"
        ],
        "synonyms": [
          "retinohepatoendocrinologic syndrome",
          "rhe syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009985"
    },
    {
      "id": 11734,
      "label": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2997,
        3018,
        4370,
        5714,
        16071,
        19530
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090110",
          "GARD:0001850",
          "ICD9:250.81",
          "MEDGEN:83339",
          "MESH:C580192",
          "NANDO:2200924",
          "NCIT:C131009",
          "OMIM:304790",
          "Orphanet:37042",
          "SCTID:237618001",
          "UMLS:C0342288",
          "icd11.foundation:1060287444"
        ],
        "synonyms": [
          "DMSD",
          "IDDM-secretory diarrhea syndrome",
          "IDDM-secretory diarrhoea syndrome",
          "IPEX",
          "X linked polyendocrinopathy",
          "X-linked autoimmunity-allergic dysregulation syndrome",
          "XLAAD",
          "XPID",
          "autoimmune enteropathy type 1",
          "autoimmunity-immunodeficiency syndrome, X-linked",
          "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea",
          "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea",
          "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked",
          "immune dysfunction and diarrhea syndrome",
          "immune dysfunction and diarrhoea syndrome",
          "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome",
          "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked",
          "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive",
          "IDDM secretory diarrhea syndrome",
          "IDDM secretory diarrhoea syndrome",
          "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked",
          "IPEX syndrome",
          "Iddm-secretory diarrhea syndrome",
          "Iddm-secretory diarrhoea syndrome",
          "Immunodysregulation, polyendocrinopathy and enteropathy X-linked",
          "autoimmunity-immunodeficiency syndrome X-linked",
          "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy",
          "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy",
          "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly",
          "islets of Langerhans, absence of",
          "polyendocrinopathy, immune dysfunction and diarrhea X-linked",
          "polyendocrinopathy, immune dysfunction and diarrhoea X-linked",
          "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010580"
    },
    {
      "id": 14625,
      "label": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2997,
        16071,
        16161,
        19530
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111946",
          "GARD:0012314",
          "MEDGEN:481620",
          "OMIM:614162",
          "Orphanet:391487",
          "UMLS:C3279990"
        ],
        "synonyms": [
          "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant",
          "immunodeficiency type 31C",
          "CANDF7",
          "IMD31C",
          "candidiasis familial chronic mucocutaneous, autosomal dominant",
          "candidiasis familial, 7",
          "candidiasis, familial chronic mucocutaneous, autosomal dominant",
          "candidiasis, familial, 7",
          "familial chronic mucocutaneous, autosomal dominant",
          "immunodeficiency 31C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013599"
    },
    {
      "id": 16050,
      "label": "multiple polyglandular tumor",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019766",
          "ICD10WHO:D44.8",
          "MEDGEN:1863613",
          "Orphanet:100094",
          "UMLS:C5848154",
          "icd11.foundation:1316827435"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0015079"
    },
    {
      "id": 17428,
      "label": "neuroectodermal-endocrine syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16071,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003959",
          "Orphanet:2676",
          "SCTID:724090001"
        ],
        "synonyms": [
          "Oerter-Friedman-Anderson syndrome",
          "neuroectodermal endocrine syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017045"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 6875,
      "label": "endocrine system disorder"
    }
  ]
}