{
  "id": 20964,
  "label": "chromosome 16p13.3 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0022752",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825967",
          "Orphanet:261956",
          "UMLS:C5679670",
          "icd11.foundation:934406879"
        ],
        "synonyms": [
          "partial deletion of chromosome 16p",
          "partial deletion of the short arm of chromosome type 16",
          "partial monosomy of chromosome 16p",
          "partial monosomy of the short arm of chromosome 16"
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0016894"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 13567,
      "label": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20964
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010754",
          "MEDGEN:350477",
          "OMIM:610543",
          "Orphanet:353281",
          "UMLS:C1864648"
        ],
        "synonyms": [
          "16p13.3 deletion syndrome",
          "Rsts deletion syndrome",
          "Rubinstein-Taybi deletion syndrome",
          "chromosome 16p13.3 deletion syndrome",
          "chromosome 16p13.3 deletion syndrome, proximal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012519"
    }
  ],
  "roots": [
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16"
    },
    {
      "id": 19058,
      "label": "Rubinstein-Taybi syndrome"
    }
  ]
}