{
  "id": 8978,
  "label": "gingival fibromatosis-hypertrichosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007610",
  "properties": {
    "xrefs": [
      "GARD:0002324",
      "MEDGEN:342675",
      "MESH:C565016",
      "OMIM:135400",
      "Orphanet:2026",
      "SCTID:716008002",
      "UMLS:C1851120"
    ],
    "synonyms": [
      "CGHT",
      "congenital generalised hypertrichosis terminalis",
      "congenital generalized hypertrichosis terminalis",
      "hirsutism-congenital gingival hyperplasia syndrome",
      "hypertrichosis with or without gingival hyperplasia",
      "hypertrichosis, congenital generalized, with gingival hyperplasia",
      "HTC3",
      "chromosome 17Q24.2-q24.3 Duplication syndrome",
      "chromosome 17Q24.2-q24.3 deletion syndrome",
      "extreme hirsutism with gingival fibromatosis",
      "fibromatosis, gingival, with hypertrichosis",
      "gingival fibromatosis with hypertrichosis",
      "hereditary gingival fibromatosis with hypertrichosis",
      "hypertrichosis terminalis, generalized, with gingival hyperplasia",
      "hypertrichosis terminalis, generalized, with or without gingival hyperplasia",
      "hypertrichosis, congenital generalized, with or without gingival hyperplasia",
      "microdeletion 17Q24.2-q24.3 syndrome",
      "microduplication 17Q24.2-q24.3 syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19135,
      "label": "hypertrichosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:420",
          "HP:0000998",
          "ICD10WHO:L68",
          "MEDGEN:43787",
          "MESH:D006983",
          "MedDRA:10020864",
          "Orphanet:79365",
          "SCTID:29966009",
          "UMLS:C0020555",
          "icd11.foundation:2042627850"
        ],
        "synonyms": [
          "hypertrichosis",
          "hypertrichosis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Excessive hair growth anywhere on the body."
      },
      "child_count": 11,
      "reference_id": "MONDO:0019280"
    },
    {
      "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": 19135,
      "label": "hypertrichosis"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}