{
  "id": 13464,
  "label": "syndromic microphthalmia type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012413",
  "properties": {
    "xrefs": [
      "DOID:0111806",
      "GARD:0003692",
      "MEDGEN:350491",
      "MESH:C566441",
      "OMIM:610125",
      "Orphanet:178364",
      "SCTID:718761007",
      "UMLS:C1864690"
    ],
    "synonyms": [
      "MCOPS5",
      "OTX2 syndromic microphthalmia",
      "microphthalmia, syndromic type 5",
      "syndromic microphthalmia caused by mutation in OTX2",
      "syndromic microphthalmia type 5",
      "syndromic microphthalmia/anophthalmia due to OTX2 mutation",
      "OTX2-related eye disorders",
      "microphthalmia syndromic 5",
      "microphthalmia, syndromic 5",
      "retinal dystrophy, early-onset, with or without pituitary dysfunction"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080636",
          "GARD:0020342",
          "MEDGEN:1826052",
          "OMIMPS:309800",
          "Orphanet:202948",
          "UMLS:C5679782"
        ],
        "synonyms": [
          "microphthalmia, syndromic",
          "syndrome associated with microphthalmia",
          "syndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is part of a larger syndrome."
      },
      "child_count": 57,
      "reference_id": "MONDO:0016073"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    }
  ]
}