{
  "id": 17054,
  "label": "glaucoma secondary to spherophakia/ectopia lentis and megalocornea",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016559",
  "properties": {
    "xrefs": [
      "GARD:0010942",
      "MEDGEN:1674483",
      "Orphanet:238763",
      "UMLS:C5190883"
    ],
    "synonyms": [
      "megalocornea-spherophakia-secondary glaucoma syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10852,
      "label": "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23976
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:761238",
          "OMIM:251750",
          "UMLS:C3538951"
        ],
        "synonyms": [
          "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma",
          "MSPKA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0009633"
    },
    {
      "id": 18318,
      "label": "hereditary glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002486",
          "MEDGEN:777991",
          "MESH:C580055",
          "Orphanet:359",
          "UMLS:C3711383"
        ],
        "synonyms": [
          "hereditary glaucoma (disease)",
          "glaucoma, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018174"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10852,
      "label": "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"
    },
    {
      "id": 18318,
      "label": "hereditary glaucoma"
    }
  ]
}