{
  "id": 14346,
  "label": "ectodermal dysplasia-syndactyly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013311",
  "properties": {
    "xrefs": [
      "GARD:0017198",
      "MEDGEN:1648397",
      "OMIMPS:613573",
      "Orphanet:247820",
      "UMLS:C4749852"
    ],
    "synonyms": [
      "EDSS",
      "EDSS1",
      "ectodermal dysplasia-syndactyly syndrome type 1",
      "ectodermal dysplasia-syndactyly syndrome 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    }
  ],
  "children": [
    {
      "id": 14348,
      "label": "ectodermal dysplasia-cutaneous syndactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14346
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017199",
          "MEDGEN:462159",
          "OMIM:613576",
          "Orphanet:247827",
          "UMLS:C3150809"
        ],
        "synonyms": [
          "EDCS",
          "EDSS2",
          "ectodermal dysplasia-syndactyly syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013313"
    },
    {
      "id": 21510,
      "label": "ectodermal dysplasia-syndactyly syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14346
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025433",
          "MEDGEN:462157",
          "OMIM:613573",
          "UMLS:C3150807"
        ],
        "synonyms": [
          "NECTIN4 ectodermal dysplasia-syndactyly syndrome",
          "ectodermal dysplasia-syndactyly syndrome 1",
          "ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4",
          "EDSS1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024565"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}