{
  "id": 21510,
  "label": "ectodermal dysplasia-syndactyly syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024565",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14346,
      "label": "ectodermal dysplasia-syndactyly syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0013311"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14346,
      "label": "ectodermal dysplasia-syndactyly syndrome"
    }
  ]
}