{
  "id": 13694,
  "label": "persistent hyperplastic primary vitreous, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012653",
  "properties": {
    "xrefs": [
      "GARD:0018168",
      "MEDGEN:370101",
      "OMIM:611308",
      "UMLS:C1969784"
    ],
    "synonyms": [
      "PHPVAD",
      "persistent hyperplastic primary vitreous, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19421,
      "label": "persistent hyperplastic primary vitreous",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6616,
        19767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060282",
          "GARD:0016803",
          "MEDGEN:120583",
          "MESH:D054514",
          "NCIT:C161554",
          "OMIMPS:221900",
          "Orphanet:91495",
          "SCTID:314270008",
          "UMLS:C0266568",
          "icd11.foundation:1011137326"
        ],
        "synonyms": [
          "PFVS",
          "PHPV",
          "congenital retinal detachment",
          "ncRNA disease",
          "non-syndromic congenital retinal non-attachment",
          "persistent fetal vasculature syndrome",
          "persistent foetal vasculature syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)"
      },
      "child_count": 4,
      "reference_id": "MONDO:0019631"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19421,
      "label": "persistent hyperplastic primary vitreous"
    }
  ]
}