{
  "id": 17282,
  "label": "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016857",
  "properties": {
    "xrefs": [
      "Orphanet:261559"
    ],
    "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 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay."
  },
  "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"
    },
    {
      "id": 17321,
      "label": "partial deletion of the long arm of chromosome 3",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17293
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825968",
          "Orphanet:262019",
          "UMLS:C5679675",
          "icd11.foundation:1054533453"
        ],
        "synonyms": [
          "partial deletion of chromosome 3q",
          "partial deletion of the long arm of chromosome type 3",
          "partial monosomy of chromosome 3q",
          "partial monosomy of the long arm of chromosome 3"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016902"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8606,
      "label": "blepharophimosis, ptosis, and epicanthus inversus syndrome"
    },
    {
      "id": 17321,
      "label": "partial deletion of the long arm of chromosome 3"
    }
  ]
}