{
  "id": 9644,
  "label": "congenital ptosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008340",
  "properties": {
    "xrefs": [
      "DOID:0060261",
      "GARD:0016798",
      "HP:0007970",
      "ICD9:743.61",
      "MEDGEN:357987",
      "MESH:C566737",
      "MedDRA:10015996",
      "NCIT:C27049",
      "Orphanet:91411",
      "SCTID:268163008",
      "UMLS:C1867438"
    ],
    "synonyms": [
      "congenital eyelid ptosis",
      "congenital ptosis (disease)",
      "ptosis, hereditary congenital 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Congenital ptosis is characterized by superior eyelid drop present at birth."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3108,
      "label": "ptosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060260",
          "HP:0000508",
          "ICD9:374.3",
          "ICD9:374.30",
          "MEDGEN:2287",
          "MESH:D001763",
          "NCIT:C27298",
          "SCTID:11934000",
          "UMLS:C0005745",
          "icd11.foundation:1361674069"
        ],
        "synonyms": [
          "blepharoptosis",
          "drooping eyelid",
          "eyelid ptosis",
          "ptosis",
          "ptosis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The drooping of the upper eyelid."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000728"
    }
  ],
  "children": [
    {
      "id": 11453,
      "label": "ptosis, hereditary congenital 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061148",
          "GARD:0018163",
          "MEDGEN:337515",
          "MESH:C564553",
          "OMIM:300245",
          "UMLS:C1846128"
        ],
        "synonyms": [
          "ptosis, hereditary congenital 2",
          "ptosis, hereditary congenital 2, X-linked dominant",
          "ptosis, hereditary congenital type 2",
          "Ptos2",
          "ptosis, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010280"
    },
    {
      "id": 15537,
      "label": "fibrosis of extraocular muscles, congenital, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        8980,
        9644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081020",
          "GARD:0018164",
          "MEDGEN:863989",
          "OMIM:616219",
          "UMLS:C4015552"
        ],
        "synonyms": [
          "COL25A1 congenital fibrosis of extraocular muscles",
          "congenital fibrosis of extraocular muscles caused by mutation in COL25A1",
          "fibrosis of extraocular muscles, congenital, 5",
          "fibrosis of extraocular muscles, congenital, type 5",
          "CFEOM5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014538"
    },
    {
      "id": 26338,
      "label": "ptosis, hereditary congenital, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061149",
          "OMIM:178300"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979905"
    }
  ],
  "roots": [
    {
      "id": 3108,
      "label": "ptosis"
    }
  ]
}