{
  "id": 9132,
  "label": "Ambras type hypertrichosis universalis congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007787",
  "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."
  },
  "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"
    }
  ]
}