{
  "id": 19658,
  "label": "hypertrichosis-acromegaloid facial appearance syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019940",
  "properties": {
    "xrefs": [
      "GARD:0000502",
      "Orphanet:966",
      "SCTID:721837000"
    ],
    "synonyms": [
      "haff",
      "hypertrichosis-acromegaloid facial features syndrome",
      "hypertrichosis-coarse face syndrome",
      "acromegaloid facial appearance syndrome and hypertrichosis",
      "acromegaloid hypertrichosis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19135,
      "label": "hypertrichosis"
    }
  ]
}