{
  "id": 8734,
  "label": "blepharocheilodontic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007339",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 19756,
      "label": "congenital ectropion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4190
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019502",
          "ICD10CM:Q10.1",
          "MEDGEN:540010",
          "Orphanet:98570",
          "SCTID:26590002",
          "UMLS:C0266578",
          "icd11.foundation:945558601"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0020161"
    }
  ],
  "children": [
    {
      "id": 21272,
      "label": "Martinez Monasterio Pinheiro syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003404",
          "MEDGEN:419330",
          "MESH:C536027",
          "UMLS:C2931089"
        ],
        "synonyms": [
          "cleft lip-palate-oligodontia-syndactyly-hair alterations",
          "cleft lip/palate oligodontia syndactyly hair alterations"
        ],
        "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": "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0023704"
    },
    {
      "id": 22995,
      "label": "blepharocheilodontic syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8734
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0040503"
    },
    {
      "id": 23607,
      "label": "blepharocheilodontic syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8734
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0054740"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19756,
      "label": "congenital ectropion"
    }
  ]
}