{
  "id": 17284,
  "label": "blepharophimosis-epicanthus inversus-ptosis due to copy number variations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016859",
  "properties": {
    "xrefs": [
      "Orphanet:261579"
    ],
    "synonyms": [
      "blepharophimosis types 1 and 2 due to copy number variations",
      "blepharophimosis-epicanthus inversus-ptosis due to a CNV"
    ],
    "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 - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8606,
      "label": "blepharophimosis, ptosis, and epicanthus inversus syndrome"
    }
  ]
}