{
  "id": 11762,
  "label": "X-linked congenital generalized hypertrichosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010614",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16912,
      "label": "hypertrichosis lanuginosa congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19135,
        19138
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016381"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16912,
      "label": "hypertrichosis lanuginosa congenita"
    }
  ]
}