{
  "id": 14397,
  "label": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013364",
  "properties": {
    "xrefs": [
      "GARD:0017535",
      "MEDGEN:462291",
      "NCIT:C153291",
      "OMIM:613684",
      "Orphanet:353284",
      "UMLS:C3150941"
    ],
    "synonyms": [
      "EP300 Rubinstein-Taybi syndrome",
      "Rubinstein-Taybi syndrome caused by mutation in EP300",
      "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",
      "Rubinstein-Taybi syndrome type 2",
      "RSTS2",
      "Rubinstein-Taybi syndrome 2"
    ],
    "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 EP300 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"
    }
  ]
}