{
  "id": 19058,
  "label": "Rubinstein-Taybi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019188",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050888",
          "MEDGEN:1842178",
          "UMLS:C5680525"
        ],
        "synonyms": [
          "syndrome associated with intellectual disability",
          "syndromic intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A intellectual disability that is part of a larger syndrome."
      },
      "child_count": 34,
      "reference_id": "MONDO:0000508"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 9692,
      "label": "Rubinstein-Taybi syndrome due to CREBBP mutations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19058,
        24323
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008393"
    },
    {
      "id": 14397,
      "label": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19058,
        24323
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013364"
    },
    {
      "id": 20964,
      "label": "chromosome 16p13.3 deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17317,
        19058
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025365",
          "MEDGEN:502906",
          "MESH:C566433",
          "UMLS:C3502510"
        ],
        "synonyms": [
          "RSTS, Severe",
          "Rubinstein-Taybi syndrome, Severe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0022752"
    }
  ],
  "roots": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}