{
  "id": 11467,
  "label": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010295",
  "properties": {
    "xrefs": [
      "GARD:0016681",
      "MEDGEN:929406",
      "MESH:C564538",
      "OMIM:300301",
      "Orphanet:69088",
      "SCTID:720986005",
      "UMLS:C4303737"
    ],
    "synonyms": [
      "OL-EDA-ID",
      "ol-EDA-ID",
      "OLEDAID",
      "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17540,
      "label": "osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        23099
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13533",
          "GARD:0004155",
          "HP:0011002",
          "ICD10CM:Q78.2",
          "ICD9:756.52",
          "MEDGEN:18223",
          "MESH:D010022",
          "MedDRA:10031280",
          "NANDO:1200998",
          "NANDO:2201013",
          "NCIT:C26840",
          "NORD:1538",
          "Orphanet:2781",
          "SCTID:1926006",
          "UMLS:C0029454",
          "icd11.foundation:1498426606"
        ],
        "synonyms": [
          "Albers-Schonberg disease",
          "marble bone disease",
          "marble bones",
          "osteopetrosis",
          "osteopetrosis (disease)",
          "Albers-Schoenberg disease",
          "osteopetroses",
          "osteopetrosis and related disorders",
          "osteosclerosis fragilis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."
      },
      "child_count": 22,
      "reference_id": "MONDO:0017198"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065,
        19049
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050580",
          "GARD:0013057",
          "ICD10CM:Q82.0",
          "ICD9:757.0",
          "MEDGEN:140763",
          "OMIMPS:153100",
          "SCTID:254199006",
          "UMLS:C0398368"
        ],
        "synonyms": [
          "hereditary lymphedema",
          "lymphedema, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation."
      },
      "child_count": 84,
      "reference_id": "MONDO:0019313"
    },
    {
      "id": 23904,
      "label": "IKBKG-related immunodeficiency with or without ectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "NEMO related ID/EDA-ID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100162"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17540,
      "label": "osteopetrosis"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation"
    },
    {
      "id": 23904,
      "label": "IKBKG-related immunodeficiency with or without ectodermal dysplasia"
    }
  ]
}