{
  "id": 22995,
  "label": "blepharocheilodontic syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0040503",
  "properties": {
    "xrefs": [
      "DOID:0080346",
      "GARD:0016244",
      "MEDGEN:1623594",
      "OMIM:617681",
      "UMLS:C4540127"
    ],
    "synonyms": [
      "CTNND1 blepharo-cheilo-odontic syndrome",
      "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1",
      "BCDS2",
      "BLEPHAROCHEILODONTIC syndrome 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8734,
      "label": "blepharocheilodontic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16089,
        19138,
        19756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080344",
          "GARD:0002071",
          "MEDGEN:349302",
          "MESH:C536188",
          "OMIMPS:119580",
          "Orphanet:1997",
          "SCTID:717911008",
          "UMLS:C1861536",
          "icd11.foundation:755252042"
        ],
        "synonyms": [
          "BCD syndrome",
          "Elsching syndrome",
          "blepharo-cheilo-odontic syndrome",
          "blepharocheilodontic syndrome",
          "clefting-ectropion-conical teeth syndrome",
          "ectropion inferior-cleft lip and or palate syndrome",
          "ectropion inferior-cleft lip and/or palate syndrome",
          "lagophthalmia-cleft lip and palate syndrome",
          "BCDS",
          "BCDS1",
          "Elschnig syndrome",
          "blepharo-cheilo-dontic syndrome",
          "blepharocheilodontic syndrome 1",
          "clefting, ectropion, and conical teeth",
          "ectropion inferior cleft lip and or palate",
          "ectropion, inferior, with cleft lip and/or palate",
          "lagophthalmia with bilateral cleft lip and palate"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth."
      },
      "child_count": 12,
      "reference_id": "MONDO:0007339"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8734,
      "label": "blepharocheilodontic syndrome"
    }
  ]
}