{
  "id": 11465,
  "label": "ectodermal dysplasia and immune deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010293",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "id": 17032,
      "label": "hypohidrotic ectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14793",
          "GARD:0000076",
          "HP:0007607",
          "MEDGEN:1853123",
          "NANDO:2201005",
          "NCIT:C84562",
          "NORD:1272",
          "Orphanet:238468",
          "UMLS:C5848103",
          "icd11.foundation:673167184"
        ],
        "synonyms": [
          "HED",
          "anhidrotic ectodermal dysplasia",
          "anhidrotic ectodermal dysplasia 1",
          "anhidrotic ectodermal dysplasia 3",
          "ectodermal dysplasia 1, Anhydrotic",
          "hypohidrotic X-linked ectodermal dysplasia",
          "CST syndrome",
          "EDA",
          "ectodermal dysplasia anhidrotic",
          "ectodermal dysplasia, hypohidrotic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016535"
    }
  ],
  "children": [
    {
      "id": 13846,
      "label": "ectodermal dysplasia and immunodeficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11465
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081079",
          "GARD:0015542",
          "MEDGEN:394295",
          "MESH:C567411",
          "NCIT:C176826",
          "OMIM:612132",
          "UMLS:C2677481"
        ],
        "synonyms": [
          "EPAID2",
          "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012806"
    },
    {
      "id": 20144,
      "label": "ectodermal dysplasia and immunodeficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11465,
        23904
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020740"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 17032,
      "label": "hypohidrotic ectodermal dysplasia"
    }
  ]
}