{
  "id": 24086,
  "label": "ectodermal dysplasia WNT10A related",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100358",
  "properties": {
    "xrefs": [
      "GARD:0026153"
    ],
    "synonyms": [
      "ectodermal dysplasia WNT10A related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 9217,
      "label": "tooth agenesis, selective, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7142,
        24086
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018245",
          "MEDGEN:372057",
          "MESH:C563634",
          "OMIM:150400",
          "UMLS:C1835492"
        ],
        "synonyms": [
          "WNT10A tooth agenesis",
          "tooth agenesis caused by mutation in WNT10A",
          "tooth agenesis, selective, 4",
          "tooth agenesis, selective, type 4",
          "STHAG4",
          "lateral incisors, absence of",
          "lateral incisors, pegged or missing",
          "succedaneous teeth, agenesis of",
          "tooth agenesis, selective, 4, with or without ectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007881"
    },
    {
      "id": 10389,
      "label": "Schöpf-Schulz-Passarge syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17917,
        24086
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111647",
          "GARD:0016649",
          "ICD9:758.89",
          "MEDGEN:347366",
          "MESH:C565607",
          "OMIM:224750",
          "Orphanet:50944",
          "SCTID:700062000",
          "UMLS:C1857069"
        ],
        "synonyms": [
          "SSPS",
          "eccrine tumors-ectodermal dysplasia",
          "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome",
          "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome",
          "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome",
          "SCHOPF-Schulz-Passarge syndrome",
          "SChöPF-Schulz-Passarge syndrome",
          "eccrine tumors with ectodermal dysplasia",
          "eccrine tumours with ectodermal dysplasia",
          "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009145"
    },
    {
      "id": 10983,
      "label": "odonto-onycho-dermal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17917,
        24086
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004054",
          "MEDGEN:208666",
          "MESH:C537742",
          "OMIM:257980",
          "Orphanet:2721",
          "SCTID:403762003",
          "UMLS:C0796093",
          "icd11.foundation:1256237872"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "OODD",
          "odontoonychodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009773"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}