{
  "id": 16912,
  "label": "hypertrichosis lanuginosa congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016381",
  "properties": {
    "xrefs": [
      "GARD:0002865",
      "MEDGEN:66727",
      "MESH:C538389",
      "OMIM:145700",
      "Orphanet:2222",
      "SCTID:201163007",
      "UMLS:C0235864",
      "icd11.foundation:199539869"
    ],
    "synonyms": [
      "hypertrichosis lanuginosa congenita",
      "hypertrichosis universalis",
      "congenital hypertrichosis lanuginosa",
      "hypertrichosis lanuginosa universalis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 9132,
      "label": "Ambras type hypertrichosis universalis congenita",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16912
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111060",
          "GARD:0008206",
          "MEDGEN:333542",
          "OMIM:145701",
          "Orphanet:1023",
          "UMLS:C1840362"
        ],
        "synonyms": [
          "Ambras syndrome",
          "HTC1",
          "HTC 1",
          "congenital generalised hypertrichosis, Ambras type",
          "congenital generalized hypertrichosis, Ambras type",
          "hypertrichosis universalis congenita Ambras type",
          "hypertrichosis universalis congenita, Ambras type",
          "hypertrichosis, congenital generalised",
          "hypertrichosis, congenital generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007787"
    },
    {
      "id": 11762,
      "label": "X-linked congenital generalized hypertrichosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16912
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002863",
          "MEDGEN:1856186",
          "MESH:C538388",
          "OMIM:307150",
          "Orphanet:79495",
          "UMLS:C5887323"
        ],
        "synonyms": [
          "Macias Flores-Garcia Cruz-Rivera syndrome",
          "congenital generalised hypertrichosis, Macias-Flores type",
          "congenital generalized hypertrichosis, Macias-Flores type",
          "hypertrichosis, congenital generalized, X-linked dominant",
          "Cgh",
          "HTC2",
          "Macias-Flores Garcia-Cruz Rivera syndrome",
          "chromosome Xq27.1 Interchromosomal insertion syndrome",
          "chromosome Xq27.1 interchromosomal insertion syndrome",
          "hCG",
          "hypertrichosis congenital generalised X-linked",
          "hypertrichosis congenital generalized X-linked",
          "hypertrichosis, congenital generalised",
          "hypertrichosis, congenital generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010614"
    }
  ],
  "roots": [
    {
      "id": 19135,
      "label": "hypertrichosis"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}