{
  "id": 17103,
  "label": "autosomal recessive hypohidrotic ectodermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016619",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 10391,
      "label": "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111665",
          "GARD:0015163",
          "MEDGEN:854356",
          "OMIM:224900",
          "UMLS:C3887494"
        ],
        "synonyms": [
          "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",
          "ECTD10B",
          "ectodermal dysplasia, anhidrotic",
          "ectodermal dysplasia, hypohidrotic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009147"
    },
    {
      "id": 14993,
      "label": "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111654",
          "GARD:0015885",
          "MEDGEN:761671",
          "OMIM:614941",
          "UMLS:C3539920"
        ],
        "synonyms": [
          "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive",
          "ECTD11B",
          "ectodermal dysplasia, anhidrotic",
          "ectodermal dysplasia, hypohidrotic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013983"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17032,
      "label": "hypohidrotic ectodermal dysplasia"
    }
  ]
}