{
  "id": 11738,
  "label": "X-linked hypohidrotic ectodermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010585",
  "properties": {
    "xrefs": [
      "DOID:0111664",
      "GARD:0010427",
      "MEDGEN:57890",
      "OMIM:305100",
      "Orphanet:181",
      "SCTID:239007005",
      "UMLS:C0162359",
      "icd11.foundation:941793098"
    ],
    "synonyms": [
      "Christ-Siemens-Touraine syndrome",
      "X-linked hypohidrotic ectodermal dysplasia",
      "XHED",
      "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive",
      "hypohidrotic ectodermal dysplasia, X-linked",
      "CST syndrome",
      "Eda1",
      "Xlhed",
      "anhidrotic ectodermal dysplasia X-linked",
      "ectodermal dysplasia 1",
      "ectodermal dysplasia 1, hypohidrotic, X-linked",
      "ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked",
      "ectodermal dysplasia, anhidrotic, X-linked",
      "ectodermal dysplasia, hypohidrotic, 1",
      "hypohidrotic ectodermal dysplasia X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 17032,
      "label": "hypohidrotic ectodermal dysplasia"
    }
  ]
}