{
  "id": 14985,
  "label": "ectodermal dysplasia 7, hair/nail type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013975",
  "properties": {
    "xrefs": [
      "DOID:0111660",
      "GARD:0018065",
      "MEDGEN:767031",
      "OMIM:614929",
      "UMLS:C3554117"
    ],
    "synonyms": [
      "KRT74 pure hair and nail ectodermal dysplasia",
      "ectodermal dysplasia 7, hair/nail type",
      "pure hair and nail ectodermal dysplasia caused by mutation in KRT74",
      "ECTD7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18963,
      "label": "pure hair and nail ectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111655",
          "GARD:0016680",
          "MEDGEN:1875649",
          "Orphanet:69084",
          "UMLS:C5979821"
        ],
        "synonyms": [
          "HNED",
          "PHNED",
          "hair-nail ectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18963,
      "label": "pure hair and nail ectodermal dysplasia"
    }
  ]
}