{
  "id": 20144,
  "label": "ectodermal dysplasia and immunodeficiency 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020740",
  "properties": {
    "xrefs": [
      "DOID:0081078",
      "GARD:0025232",
      "MEDGEN:375787",
      "NCIT:C176592",
      "OMIM:300291",
      "UMLS:C1846008"
    ],
    "synonyms": [
      "EDA-Id",
      "HED-Id",
      "EDAID1",
      "ectodermal dysplasia and immunodeficiency 1, X-linked recessive",
      "ectodermal dysplasia, anhidrotic, with immune deficiency 1",
      "ectodermal dysplasia, hypohidrotic, with immune deficiency 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11465,
      "label": "ectodermal dysplasia and immune deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        17032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081077",
          "GARD:0009936",
          "MEDGEN:375786",
          "MESH:C536181",
          "NANDO:1200360",
          "NANDO:2200761",
          "NCIT:C118844",
          "OMIMPS:300291",
          "Orphanet:98813",
          "SCTID:703525006",
          "UMLS:C1846006"
        ],
        "synonyms": [
          "EDA-ID",
          "HED-ID",
          "anhidrotic ectodermal dysplasia with immune deficiency",
          "anhidrotic ectodermal dysplasia with immunodeficiency",
          "hypohidrotic ectodermal dysplasia with immune deficiency",
          "hypohidrotic ectodermal dysplasia with immunodeficiency",
          "Xhm-Ed",
          "ectodermal dysplasia, anhidrotic, with immune deficiency",
          "ectodermal dysplasia, hypohidrotic, with immune deficiency",
          "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0010293"
    },
    {
      "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": 11465,
      "label": "ectodermal dysplasia and immune deficiency"
    },
    {
      "id": 23904,
      "label": "IKBKG-related immunodeficiency with or without ectodermal dysplasia"
    }
  ]
}