{
  "id": 13452,
  "label": "congenital stromal corneal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012401",
  "properties": {
    "xrefs": [
      "DOID:0060445",
      "GARD:0016943",
      "ICD9:371.56",
      "MEDGEN:400601",
      "MESH:C566452",
      "OMIM:610048",
      "Orphanet:101068",
      "SCTID:702359002",
      "UMLS:C1864738",
      "icd11.foundation:1796933876"
    ],
    "synonyms": [
      "CSCD",
      "Witschel dystrophy",
      "congenital hereditary stromal dystrophy",
      "congenital stromal corneal dystrophy",
      "corneal dystrophy, congenital stromal"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 19763,
      "label": "stromal corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060442",
          "GARD:0019519",
          "ICD9:371.56",
          "MEDGEN:20973",
          "Orphanet:98626",
          "SCTID:231931001",
          "UMLS:C0038457",
          "icd11.foundation:1392780216"
        ],
        "synonyms": [
          "corneal dystrophy (disease) of substantia propria of cornea",
          "corneal stromal dystrophy",
          "substantia propria of cornea corneal dystrophy (disease)",
          "stromal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy."
      },
      "child_count": 10,
      "reference_id": "MONDO:0020213"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19763,
      "label": "stromal corneal dystrophy"
    }
  ]
}