{
  "id": 10344,
  "label": "persistent hyperplastic primary vitreous, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009097",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19421,
      "label": "persistent hyperplastic primary vitreous"
    }
  ]
}