{
  "id": 13603,
  "label": "Cornelia de Lange syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012555",
  "properties": {
    "xrefs": [
      "DOID:0080507",
      "GARD:0015499",
      "MEDGEN:339902",
      "OMIM:610759",
      "UMLS:C1853099"
    ],
    "synonyms": [
      "Cornelia De Lange syndrome type 3",
      "Cornelia de Lange syndrome 3",
      "Cornelia de Lange syndrome caused by mutation in SMC3",
      "Cornelia de Lange syndrome caused by mutation in Smc3",
      "SMC3 Cornelia de Lange syndrome",
      "Smc3 Cornelia de Lange syndrome",
      "CDLS3",
      "Cornelia DE Lange syndrome 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16671,
      "label": "Cornelia de Lange syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16087,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11725",
          "GARD:0010109",
          "MEDGEN:78752",
          "MedDRA:10056354",
          "NANDO:1200960",
          "NANDO:2200958",
          "NCIT:C75016",
          "NORD:1009",
          "OMIMPS:122470",
          "Orphanet:199",
          "UMLS:C0270972",
          "icd11.foundation:1801560012"
        ],
        "synonyms": [
          "Brachmann-de Lange syndrome",
          "Cornelia de Lange syndrome",
          "CDLS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes."
      },
      "child_count": 24,
      "reference_id": "MONDO:0016033"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16671,
      "label": "Cornelia de Lange syndrome"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}