{
  "id": 8606,
  "label": "blepharophimosis, ptosis, and epicanthus inversus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007201",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 9827,
      "label": "telecanthus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5315
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0008537"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    }
  ],
  "children": [
    {
      "id": 17282,
      "label": "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8606,
        17321
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016857"
    },
    {
      "id": 17283,
      "label": "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8606
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:261572"
        ],
        "synonyms": [
          "blepharophimosis types 1 and 2 due to a point mutation"
        ],
        "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 a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016858"
    },
    {
      "id": 17284,
      "label": "blepharophimosis-epicanthus inversus-ptosis due to copy number variations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8606
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016859"
    },
    {
      "id": 22862,
      "label": "blepharophimosis-ptosis-epicanthus inversus syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8606
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018008",
          "MEDGEN:1843155",
          "Orphanet:572354",
          "UMLS:C5680365"
        ],
        "synonyms": [
          "BPES type 1",
          "blepharophimosis-ptosis-epicanthus inversus syndrome with premature 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035524"
    },
    {
      "id": 22863,
      "label": "blepharophimosis-ptosis-epicanthus inversus syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8606
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010213",
          "MEDGEN:1842581",
          "Orphanet:572361",
          "UMLS:C5680363"
        ],
        "synonyms": [
          "BPES type 2",
          "blepharophimosis-ptosis-epicanthus inversus syndrome without premature 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035525"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 9827,
      "label": "telecanthus"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    }
  ]
}