{
  "id": 19825,
  "label": "posterior polymorphous corneal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020364",
  "properties": {
    "xrefs": [
      "DOID:0060457",
      "GARD:0016882",
      "MEDGEN:87382",
      "OMIMPS:122000",
      "Orphanet:98973",
      "UMLS:C0339284",
      "icd11.foundation:935421185"
    ],
    "synonyms": [
      "PPCD",
      "Schlichting dystrophy",
      "corneal dystrophy, posterior polymorphous",
      "posterior polymorphous dystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 3132,
      "label": "corneal endothelial dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060443",
          "GARD:0022828",
          "ICD9:371.57",
          "MEDGEN:1779156",
          "SCTID:416960004",
          "UMLS:C5441823"
        ],
        "synonyms": [
          "corneal dystrophy (disease) of corneal epithelium",
          "endothelial dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A corneal dystrophy (disease) that involves the corneal epithelium."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000766"
    },
    {
      "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": 19764,
      "label": "posterior corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019520",
          "ICD9:371.58",
          "MEDGEN:810969",
          "Orphanet:98627",
          "SCTID:35091000119101",
          "UMLS:C2063478",
          "icd11.foundation:570101963"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0020214"
    }
  ],
  "children": [
    {
      "id": 8771,
      "label": "posterior polymorphous corneal dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19825
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110855",
          "GARD:0018212",
          "ICD9:371.58",
          "MEDGEN:343836",
          "OMIM:122000",
          "SCTID:29504002",
          "UMLS:C1852555"
        ],
        "synonyms": [
          "Maumenee corneal dystrophy",
          "PPCD1",
          "Ppcd1",
          "corneal dystrophy, posterior polymorphous, type 1",
          "posterior polymorphous corneal dystrophy type 1",
          "corneal dystrophy, POSTERIOR polymorphous, 1",
          "corneal dystrophy, hereditary polymorphous posterior",
          "corneal endothelial dystrophy 1, autosomal dominant, formerly",
          "posterior polymorphous corneal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007378"
    },
    {
      "id": 13261,
      "label": "posterior polymorphous corneal dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19825
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110856",
          "GARD:0018213",
          "MEDGEN:377757",
          "MESH:C565176",
          "OMIM:609140",
          "UMLS:C1852795"
        ],
        "synonyms": [
          "COL8A2 posterior polymorphous corneal dystrophy",
          "PPCD2",
          "Ppcd2",
          "corneal dystrophy, posterior polymorphous 2",
          "corneal dystrophy, posterior polymorphous, type 2",
          "posterior polymorphous corneal dystrophy caused by mutation in COL8A2",
          "posterior polymorphous corneal dystrophy type 2",
          "corneal dystrophy, POSTERIOR polymorphous, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012199"
    },
    {
      "id": 13262,
      "label": "posterior polymorphous corneal dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19825
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110857",
          "GARD:0018214",
          "MEDGEN:322978",
          "MESH:C563788",
          "OMIM:609141",
          "UMLS:C1836724"
        ],
        "synonyms": [
          "PPCD3",
          "Ppcd3",
          "ZEB1 posterior polymorphous corneal dystrophy",
          "corneal dystrophy, posterior polymorphous, type 3",
          "posterior polymorphous corneal dystrophy caused by mutation in ZEB1",
          "posterior polymorphous corneal dystrophy type 3",
          "corneal dystrophy, POSTERIOR polymorphous, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012200"
    },
    {
      "id": 23636,
      "label": "corneal dystrophy, posterior polymorphous, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19825
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080669",
          "GARD:0018215",
          "MEDGEN:1648359",
          "OMIM:618031",
          "UMLS:C4747961"
        ],
        "synonyms": [
          "PPCD4",
          "corneal dystrophy, POSTERIOR polymorphous, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054832"
    }
  ],
  "roots": [
    {
      "id": 3132,
      "label": "corneal endothelial dystrophy"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19764,
      "label": "posterior corneal dystrophy"
    }
  ]
}