{
  "id": 16602,
  "label": "autosomal dominant hypohidrotic ectodermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015884",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 8892,
      "label": "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111663",
          "GARD:0018591",
          "MEDGEN:854747",
          "OMIM:129490",
          "UMLS:C3888065"
        ],
        "synonyms": [
          "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant",
          "ECTD10A",
          "ectodermal dysplasia hypohidrotic autosomal dominant",
          "ectodermal dysplasia, hypohidrotic, autosomal dominant",
          "hypohidrotic ectodermal dysplasia autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007509"
    },
    {
      "id": 14992,
      "label": "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111653",
          "GARD:0018592",
          "MEDGEN:762105",
          "OMIM:614940",
          "UMLS:C3541517"
        ],
        "synonyms": [
          "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant",
          "ECTD11A",
          "ectodermal dysplasia, hypohidrotic, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013982"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17032,
      "label": "hypohidrotic ectodermal dysplasia"
    }
  ]
}