{
  "id": 10392,
  "label": "Rosselli-Gulienetti syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009148",
  "properties": {
    "xrefs": [
      "GARD:0024650",
      "MEDGEN:163221",
      "MESH:C563117",
      "OMIM:225000",
      "Orphanet:90339",
      "UMLS:C0796139",
      "icd11.foundation:1430451924"
    ],
    "synonyms": [
      "Rosselli-Gulienetti syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8536,
      "label": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18362,
        18956,
        19138,
        29233
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090119",
          "GARD:0006571",
          "MEDGEN:98032",
          "MESH:C535847",
          "NORD:738",
          "OMIM:106260",
          "Orphanet:1071",
          "SCTID:55821006",
          "UMLS:C0406709"
        ],
        "synonyms": [
          "AEC Syndrome",
          "AEC syndrome",
          "Hay-Wells syndrome",
          "Ankyloblepharon ectodermal defects cleft lip/palate",
          "Rapp-Hodgkins syndrome",
          "Seres-Santamaria Arimany Muniz syndrome",
          "ankyloblepharon-ectodermal defects-cleft LIP/palate",
          "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007124"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8536,
      "label": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"
    }
  ]
}