{
  "id": 19421,
  "label": "persistent hyperplastic primary vitreous",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019631",
  "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.)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 6616,
      "label": "vitreous disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9720",
          "ICD9:379.24",
          "MEDGEN:1843447",
          "UMLS:C0700141"
        ],
        "synonyms": [
          "disease of vitreous humor",
          "disease of vitreous humour",
          "disease or disorder of vitreous humor",
          "disease or disorder of vitreous humour",
          "disorder of vitreous humor",
          "disorder of vitreous humour",
          "vitreous humor disease",
          "vitreous humor disease or disorder",
          "vitreous humour disease",
          "vitreous humour disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the vitreous humor."
      },
      "child_count": 4,
      "reference_id": "MONDO:0004860"
    },
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025155",
          "ICD9:743.56",
          "MEDGEN:757909",
          "Orphanet:98669",
          "SCTID:449866003",
          "UMLS:C3266134",
          "icd11.foundation:44221751"
        ],
        "synonyms": [
          "vitreoretinal dysplasia"
        ],
        "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": 18,
      "reference_id": "MONDO:0020247"
    }
  ],
  "children": [
    {
      "id": 10344,
      "label": "persistent hyperplastic primary vitreous, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19421
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018167",
          "MEDGEN:370100",
          "MESH:C566966",
          "OMIM:221900",
          "Orphanet:300337",
          "UMLS:C1969783"
        ],
        "synonyms": [
          "autosomal recessive persistent hyperplastic primary vitreous",
          "persistent hyperplastic primary vitreous, autosomal recessive",
          "PHPVAR",
          "persistent fetal vasculature",
          "persistent foetal vasculature",
          "retinal nonattachment and falciform detachment",
          "retinal nonattachment, nonsyndromic congenital"
        ],
        "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": "Autosomal recessive form of persistent hyperplastic primary vitreous."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009097"
    },
    {
      "id": 13694,
      "label": "persistent hyperplastic primary vitreous, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19421
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012653"
    }
  ],
  "roots": [
    {
      "id": 6616,
      "label": "vitreous disorder"
    },
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia"
    }
  ]
}