{
  "id": 9904,
  "label": "upper limb mesomelic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008620",
  "properties": {
    "xrefs": [
      "GARD:0002408",
      "MEDGEN:1811806",
      "MESH:C538069",
      "OMIM:191440",
      "Orphanet:2497",
      "UMLS:C5574958",
      "icd11.foundation:2013121778"
    ],
    "synonyms": [
      "Fryns-Hofkens-Fabry syndrome",
      "upper limb mesomelic dysplasia",
      "Fryns Hofkens Fabry syndrome",
      "ulna hypoplasia",
      "ulnar hypoplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 21245,
      "label": "mesomelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:593147",
          "NCIT:C121156",
          "SCTID:205473008",
          "UMLS:C0410536"
        ],
        "synonyms": [
          "mesomelic dysplasia",
          "mesomelic dysplasias",
          "Mesomelic Dysplasia",
          "Mesomelic dwarf",
          "Mesomelic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0023599"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 21245,
      "label": "mesomelic dysplasia"
    }
  ]
}