{
  "id": 23607,
  "label": "blepharocheilodontic syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0054740",
  "properties": {
    "xrefs": [
      "DOID:0080345",
      "GARD:0025965",
      "MEDGEN:1632198",
      "OMIM:119580",
      "UMLS:C4551988"
    ],
    "synonyms": [
      "CDH1 blepharo-cheilo-odontic syndrome",
      "blepharo-cheilo-odontic syndrome caused by mutation in CDH1",
      "blepharocheilodontic syndrome 1",
      "BCD syndrome",
      "BCDS1",
      "Lagophthalmia with bilateral cleft 51P and palate",
      "blepharocheilodontic syndrome",
      "clefting, ectropion, and conical teeth",
      "ectropion, Inferior, with cleft 51P and/Or palate",
      "elschnig syndrome"
    ],
    "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 CDH1 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"
    }
  ]
}