{
  "id": 17032,
  "label": "hypohidrotic ectodermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016535",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "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": 11738,
      "label": "X-linked hypohidrotic ectodermal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        17032
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010585"
    },
    {
      "id": 16602,
      "label": "autosomal dominant hypohidrotic ectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        17032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002048",
          "MEDGEN:539190",
          "Orphanet:1810",
          "UMLS:C0265331",
          "icd11.foundation:222258115"
        ],
        "synonyms": [
          "AD-HED",
          "autosomal dominant anhidrotic ectodermal dysplasia",
          "hypohidrotic ectodermal dysplasia, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal dominant form of hypohidrotic ectodermal dysplasia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015884"
    },
    {
      "id": 17103,
      "label": "autosomal recessive hypohidrotic ectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002057",
          "MEDGEN:96067",
          "MESH:D053360",
          "NCIT:C84580",
          "Orphanet:248",
          "SCTID:27025001",
          "UMLS:C0406702",
          "icd11.foundation:7083042"
        ],
        "synonyms": [
          "AR-HED",
          "autosomal recessive anhidrotic ectodermal dysplasia",
          "hypohidrotic ectodermal dysplasia, autosomal recessive",
          "anhidrotic ectodermal dysplasia, autosomal recessive",
          "hypohidrotic ectodermal dysplasia autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016619"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}