{
  "id": 18318,
  "label": "hereditary glaucoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018174",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6774,
      "label": "glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1686",
          "HP:0000501",
          "ICD10CM:H40",
          "ICD10CM:H40-H42",
          "ICD10WHO:H40",
          "ICD10WHO:H40-H42",
          "ICD9:365",
          "ICD9:365.89",
          "ICD9:365.9",
          "MEDGEN:42224",
          "MESH:D005901",
          "NCIT:C26782",
          "SCTID:23986001",
          "UMLS:C0017601",
          "icd11.foundation:499924848"
        ],
        "synonyms": [
          "glaucoma",
          "glaucoma (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor."
      },
      "child_count": 11,
      "reference_id": "MONDO:0005041"
    }
  ],
  "children": [
    {
      "id": 9022,
      "label": "glaucoma with elevated episcleral venous pressure",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024569",
          "MEDGEN:333975",
          "MESH:C564235",
          "OMIM:137700",
          "UMLS:C1842030"
        ],
        "synonyms": [
          "glaucoma with elevated episcleral venous pressure"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007663"
    },
    {
      "id": 9632,
      "label": "exfoliation syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3759,
        4370,
        4401,
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13641",
          "EFO:0004235",
          "GARD:0027786",
          "ICD9:365.52",
          "MEDGEN:60133",
          "MESH:D017889",
          "NCIT:C129025",
          "Orphanet:529819",
          "SCTID:111514006",
          "UMLS:C0206368"
        ],
        "synonyms": [
          "XFG",
          "XFS",
          "pseudoexfoliation glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008327"
    },
    {
      "id": 9633,
      "label": "glaucoma 1, open angle, P",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7024,
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024617",
          "MEDGEN:854866",
          "MESH:C566748",
          "OMIM:177700",
          "UMLS:C3888338"
        ],
        "synonyms": [
          "glaucoma 1, open angle, P",
          "glaucoma 1, open angle, type P",
          "GLC1P"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008328"
    },
    {
      "id": 11779,
      "label": "iris hypoplasia with glaucoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        18318,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009171",
          "MEDGEN:326993",
          "MESH:C535538",
          "OMIM:308500",
          "UMLS:C1839928"
        ],
        "synonyms": [
          "iris hypoplasia with glaucoma",
          "IHG",
          "iris hypoplasia and glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010633"
    },
    {
      "id": 14171,
      "label": "glaucoma 1, open angle, O",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7024,
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024902",
          "MEDGEN:416515",
          "MESH:C567753",
          "OMIM:613100",
          "UMLS:C2751294"
        ],
        "synonyms": [
          "NTF4 open-angle glaucoma",
          "glaucoma 1, open angle, 1O",
          "glaucoma 1, open angle, O",
          "glaucoma 1, open angle, type O",
          "open-angle glaucoma caused by mutation in NTF4",
          "GLC1O"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013134"
    },
    {
      "id": 17054,
      "label": "glaucoma secondary to spherophakia/ectopia lentis and megalocornea",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10852,
        18318
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016559"
    },
    {
      "id": 19827,
      "label": "congenital glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11212",
          "GARD:0025157",
          "ICD9:743.2",
          "ICD9:743.20",
          "MEDGEN:42532",
          "MESH:D006871",
          "NCIT:C50648",
          "SCTID:204113001",
          "UMLS:C0020302"
        ],
        "synonyms": [
          "Buphthalmus",
          "buphthalmia",
          "buphthalmos",
          "hydrophthalmos",
          "primary congenital glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020366"
    },
    {
      "id": 19828,
      "label": "juvenile open angle glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7024,
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1068",
          "GARD:0016883",
          "ICD9:365.14",
          "MEDGEN:453382",
          "MedDRA:10064032",
          "Orphanet:98977",
          "SCTID:71111008",
          "UMLS:C2981140"
        ],
        "synonyms": [
          "JOAG",
          "childhood glaucoma (disease)",
          "glaucoma (disease) of childhood",
          "glaucoma of childhood",
          "juvenile glaucoma",
          "paediatric glaucoma (disease)",
          "pediatric glaucoma (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020367"
    },
    {
      "id": 21413,
      "label": "anterior segment dysgenesis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4401,
        18318,
        23975
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080608",
          "GARD:0002978",
          "MEDGEN:1875235",
          "MESH:C535535",
          "OMIM:601631",
          "UMLS:C5975707"
        ],
        "synonyms": [
          "ASGD3",
          "FOXC1 iridogoniodysgenesis",
          "IGDA",
          "IGDA syndrome",
          "IRID1",
          "anterior segment dysgenesis 3",
          "anterior segment dysgenesis 3, multiple subtypes",
          "iridogoniodysgenesis anomaly, autosomal dominant",
          "iridogoniodysgenesis caused by mutation in FOXC1",
          "iridogoniodysgenesis type 1",
          "iridogoniodysgenesis, type 1",
          "glaucoma iridogoniodysgenesia",
          "glaucoma iridogoniodysplasia, familial",
          "iris hypoplasia with glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0024456"
    },
    {
      "id": 21820,
      "label": "hereditary glaucoma, primary closed-angle",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4044,
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027267",
          "MEDGEN:1712967",
          "OMIM:618880",
          "UMLS:C5394374"
        ],
        "synonyms": [
          "GLCC",
          "glaucoma, primary closed-angle",
          "hereditary primary angle-closure glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030038"
    },
    {
      "id": 24278,
      "label": "OPTN-related open angle glaucoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7024,
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026277",
          "MEDGEN:87389",
          "OMIM:137760",
          "UMLS:C0339573"
        ],
        "synonyms": [
          "OPTN-related open angle glaucoma",
          "glaucoma 1, open angle, E"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100553"
    },
    {
      "id": 24874,
      "label": "TEK-related primary glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026473"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0800182"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6774,
      "label": "glaucoma"
    }
  ]
}