{
  "id": 18963,
  "label": "pure hair and nail ectodermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019071",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 12299,
      "label": "ectodermal dysplasia 4, hair/nail type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18963
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111658",
          "GARD:0018062",
          "MEDGEN:870434",
          "MESH:C566592",
          "OMIM:602032",
          "UMLS:C4024880"
        ],
        "synonyms": [
          "KRT85 pure hair and nail ectodermal dysplasia",
          "ectodermal dysplasia 4, hair/nail type",
          "pure hair and nail ectodermal dysplasia caused by mutation in KRT85",
          "ECTD4",
          "ectodermal dysplasia, 'Pure' hair/nail type",
          "pili torti onychodysplasia",
          "twisted hair with nail dysplasias"
        ],
        "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 KRT85 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011177"
    },
    {
      "id": 14984,
      "label": "ectodermal dysplasia 6, hair/nail type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18963
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111659",
          "GARD:0018064",
          "MEDGEN:767025",
          "OMIM:614928",
          "UMLS:C3554111"
        ],
        "synonyms": [
          "ECTD6",
          "ectodermal dysplasia 6, hair/nail type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013974"
    },
    {
      "id": 14985,
      "label": "ectodermal dysplasia 7, hair/nail type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18963
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013975"
    },
    {
      "id": 14986,
      "label": "ectodermal dysplasia 9, hair/nail type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18963
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111656",
          "GARD:0018066",
          "MEDGEN:767041",
          "OMIM:614931",
          "UMLS:C3554127"
        ],
        "synonyms": [
          "HOXC13 pure hair and nail ectodermal dysplasia",
          "ectodermal dysplasia 9, hair/nail type",
          "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13",
          "ECTD9"
        ],
        "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 HOXC13 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013976"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}