{
  "id": 12574,
  "label": "epidermolysis bullosa simplex due to plakophilin deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011472",
  "properties": {
    "xrefs": [
      "GARD:0009705",
      "MEDGEN:388032",
      "MESH:C536183",
      "OMIM:604536",
      "Orphanet:158668",
      "SCTID:716699004",
      "UMLS:C1858302"
    ],
    "synonyms": [
      "McGrath syndrome",
      "ectodermal dysplasia-skin fragility syndrome",
      "Mcgrath syndrome",
      "ectodermal dysplasia - skin fragility syndrome",
      "ectodermal dysplasia skin fragility syndrome",
      "ectodermal dysplasia/skin fragility syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16362,
      "label": "suprabasal epidermolysis bullosa simplex",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025064",
          "MEDGEN:1388459",
          "Orphanet:158661",
          "SCTID:724840004",
          "UMLS:C4511300",
          "icd11.foundation:1980336421"
        ],
        "synonyms": [
          "epidermis suprabasal layer epidermolysis bullosa simplex",
          "epidermolysis bullosa simplex of epidermis suprabasal layer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015550"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 16362,
      "label": "suprabasal epidermolysis bullosa simplex"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}