{
  "id": 16671,
  "label": "Cornelia de Lange syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016033",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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": 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"
    }
  ],
  "children": [
    {
      "id": 8779,
      "label": "Cornelia de Lange syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16671,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080505",
          "GARD:0024555",
          "ICD9:759.89",
          "MEDGEN:1645760",
          "OMIM:122470",
          "SCTID:40354009",
          "UMLS:C4551851"
        ],
        "synonyms": [
          "Cornelia De Lange syndrome type 1",
          "Cornelia de Lange syndrome 1",
          "Cornelia de Lange syndrome caused by mutation in NIPBL",
          "NIPBL Cornelia de Lange syndrome",
          "Brachmann-De Lange syndrome",
          "CDLS1",
          "Cdl",
          "Cornelia DE Lange syndrome 1",
          "De Lange syndrome",
          "typus Degenerativus Amstelodamensis"
        ],
        "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 NIPBL gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007387"
    },
    {
      "id": 11535,
      "label": "Cornelia de Lange syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16671,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080506",
          "GARD:0015259",
          "MEDGEN:315658",
          "NCIT:C75485",
          "OMIM:300590",
          "UMLS:C1802395"
        ],
        "synonyms": [
          "Cornelia De Lange syndrome type 2",
          "Cornelia de Lange syndrome 2",
          "Cornelia de Lange syndrome 2, X-linked dominant",
          "Cornelia de Lange syndrome caused by mutation in SMC1A",
          "SMC1A Cornelia de Lange syndrome",
          "X-linked Cornelia De Lange syndrome",
          "CDLS2",
          "Cdls, X-linked",
          "Cornelia DE Lange syndrome 2",
          "Cornelia De Lange syndrome, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010370"
    },
    {
      "id": 11629,
      "label": "Cornelia de Lange syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16671,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080509",
          "GARD:0015271",
          "MEDGEN:763817",
          "OMIM:300882",
          "UMLS:C3550903"
        ],
        "synonyms": [
          "Cornelia De Lange syndrome type 5",
          "Cornelia de Lange syndrome 5",
          "Cornelia de Lange syndrome 5, X-linked dominant",
          "CDLS5",
          "Cornelia DE Lange syndrome 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010471"
    },
    {
      "id": 13603,
      "label": "Cornelia de Lange syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16671,
        19479
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012555"
    },
    {
      "id": 14876,
      "label": "Cornelia de Lange syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16671,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080508",
          "GARD:0015837",
          "MEDGEN:766431",
          "OMIM:614701",
          "UMLS:C3553517"
        ],
        "synonyms": [
          "Cornelia De Lange syndrome type 4",
          "Cornelia de Lange syndrome 4",
          "Cornelia de Lange syndrome caused by mutation in RAD21",
          "RAD21 Cornelia de Lange syndrome",
          "CDLS4",
          "Cornelia DE Lange syndrome 4"
        ],
        "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 RAD21 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013864"
    },
    {
      "id": 25771,
      "label": "Cornelia de Lange syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16671
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060970",
          "GARD:0026892",
          "MEDGEN:1848930",
          "OMIM:620568",
          "UMLS:C5882712"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957921"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}