{
  "id": 22790,
  "label": "isolated foveal hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0034978",
  "properties": {
    "xrefs": [
      "GARD:0022127",
      "ICD10CM:H35.8",
      "MEDGEN:376923",
      "Orphanet:519398",
      "UMLS:C1850993"
    ],
    "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 rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6979,
      "label": "retinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5679",
          "EFO:0003839",
          "HGNC:8002",
          "ICD9:362.89",
          "ICD9:362.9",
          "MEDGEN:11209",
          "MESH:D012164",
          "NCIT:C26875",
          "NCIT:C62601",
          "SCTID:29555009",
          "UMLS:C0035309"
        ],
        "synonyms": [
          "eye disease of retina",
          "retina eye disease",
          "retinopathy"
        ],
        "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": "Any disease or disorder of the retina."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005283"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6979,
      "label": "retinal disorder"
    }
  ]
}