{
  "id": 9827,
  "label": "telecanthus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008537",
  "properties": {
    "xrefs": [
      "GARD:0019505",
      "MEDGEN:140836",
      "MESH:C562941",
      "OMIM:187350",
      "Orphanet:98575",
      "UMLS:C0423113",
      "icd11.foundation:210416501"
    ],
    "synonyms": [
      "telecanthus"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5315,
      "label": "eyelid disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2924,
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:530",
          "EFO:0009547",
          "ICD10CM:H00",
          "ICD9:374.89",
          "ICD9:374.9",
          "MEDGEN:41938",
          "MESH:D005141",
          "NCIT:C26768",
          "SCTID:60113004",
          "UMLS:C0015423"
        ],
        "synonyms": [
          "disease of eyelid",
          "disease or disorder of eyelid",
          "disorder of eyelid",
          "eyelid disease",
          "eyelid disease or disorder",
          "eyelid disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the eyelid."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003382"
    }
  ],
  "children": [
    {
      "id": 8606,
      "label": "blepharophimosis, ptosis, and epicanthus inversus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        9827,
        19578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14778",
          "GARD:0000023",
          "MEDGEN:66312",
          "MESH:C562419",
          "NORD:862",
          "OMIM:110100",
          "Orphanet:126",
          "SCTID:715391004",
          "UMLS:C0220663"
        ],
        "synonyms": [
          "BPES",
          "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome",
          "blepharophimosis types 1 and 2",
          "blepharophimosis, epicanthus inversus, and ptosis, type 1",
          "blepharophimosis, epicanthus inversus, and ptosis, type 2",
          "blepharophimosis, ptosis, and epicanthus inversus",
          "blepharophimosis, ptosis, and epicanthus inversus syndrome",
          "blepharophimosis, ptosis, epicanthus inversus syndrome",
          "blepharophimosis-epicanthus inversus-ptosis syndrome",
          "BPES type 1",
          "BPES with Duane retraction syndrome",
          "BPES with ovarian failure",
          "BPES with premature ovarian failure",
          "BPES without ovarian failure",
          "BPES, type 1",
          "BPES, type 2",
          "BPES, type I, autosomal recessive",
          "blepharophimosis syndrome type 1",
          "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1",
          "blepharophimosis, ptosis, epicanthus inversus with ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0007201"
    },
    {
      "id": 17498,
      "label": "Opitz G/BBB syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        9827,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050780",
          "DOID:0080697",
          "GARD:0000193",
          "ICD9:758.89",
          "NCIT:C125487",
          "OMIMPS:300000",
          "Orphanet:2745",
          "SCTID:81771002"
        ],
        "synonyms": [
          "Opitz G syndrome",
          "Opitz G/BBB syndrome",
          "Opitz GBBB syndrome",
          "Opitz syndrome",
          "Opitz-Frias syndrome",
          "Opitz-GBBB syndrome",
          "hypertelorism-oesophageal abnormality-hypospadias syndrome",
          "hypospadias-dysphagia syndrome",
          "hypospadias-hypertelorism syndrome",
          "BBB syndrome",
          "G syndrome",
          "GBBB syndrome",
          "Opitz BBBG syndrome",
          "Opitz-G syndrome, type 2",
          "hypertelorism hypospadias syndrome",
          "hypertelorism with esophageal abnormality and hypospadias",
          "hypospadias-dysphagia, syndrome",
          "telecanthus with associated abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017138"
    }
  ],
  "roots": [
    {
      "id": 5315,
      "label": "eyelid disorder"
    }
  ]
}