{
  "id": 9692,
  "label": "Rubinstein-Taybi syndrome due to CREBBP mutations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008393",
  "properties": {
    "xrefs": [
      "GARD:0017534",
      "MEDGEN:1639327",
      "NCIT:C153290",
      "OMIM:180849",
      "Orphanet:353277",
      "UMLS:C4551859"
    ],
    "synonyms": [
      "CREBBP Rubinstein-Taybi syndrome",
      "RSTS1",
      "Rubinstein-Taybi syndrome 1",
      "Rubinstein-Taybi syndrome caused by mutation in CREBBP",
      "Rubinstein-Taybi syndrome due to CREBBP mutations",
      "Rubinstein-Taybi syndrome type 1",
      "RSTS",
      "Rubinstein syndrome",
      "broad thumb-hallux syndrome",
      "broad thumbs and great toes, characteristic facies, and intellectual disability",
      "broad thumbs and great toes, characteristic facies, and mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19058,
      "label": "Rubinstein-Taybi syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        4427,
        16087,
        18362,
        18956,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:7",
          "DOID:1933",
          "GARD:0007593",
          "ICD9:759.89",
          "MEDGEN:48517",
          "MESH:D012415",
          "MedDRA:10039281",
          "NANDO:1200461",
          "NANDO:2200955",
          "NCIT:C75466",
          "NORD:1682",
          "OMIMPS:180849",
          "Orphanet:783",
          "SCTID:45582004",
          "UMLS:C0035934",
          "icd11.foundation:692585833"
        ],
        "synonyms": [
          "Broad thumb-hallux syndrome",
          "Broad thumbs-halluces syndrome",
          "Rubinstein-Taybi Syndrome",
          "RSTS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019188"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        23914
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of syndromic intellectual disability."
      },
      "child_count": 68,
      "reference_id": "MONDO:0100601"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19058,
      "label": "Rubinstein-Taybi syndrome"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability"
    }
  ]
}