{
  "id": 15993,
  "label": "anterior segment dysgenesis 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015017",
  "properties": {
    "xrefs": [
      "DOID:0080613",
      "GARD:0017954",
      "MEDGEN:934589",
      "OMIM:617319",
      "Orphanet:519388",
      "UMLS:C4310622"
    ],
    "synonyms": [
      "ASGD8",
      "CPAMD8 anterior segment dysgenesis",
      "CPAMD8-related anterior segment dysgenesis",
      "anterior segment dysgenesis 8",
      "anterior segment dysgenesis caused by mutation in CPAMD8",
      "anterior segment dysgenesis type 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19321,
      "label": "anterior segment dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7019,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060648",
          "GARD:0010025",
          "ICD9:743.49",
          "MEDGEN:350766",
          "NANDO:1201000",
          "OMIMPS:107250",
          "Orphanet:88632",
          "SCTID:65075004",
          "UMLS:C1862839",
          "icd11.foundation:1182282997",
          "icd11.foundation:943599144"
        ],
        "synonyms": [
          "ASGD",
          "ASMD",
          "ASOD",
          "anterior segment mesenchymal dysgenesis",
          "anterior segment ocular dysgenesis",
          "familial ocular anterior segment mesenchymal dysgenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)."
      },
      "child_count": 24,
      "reference_id": "MONDO:0019503"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19321,
      "label": "anterior segment dysgenesis"
    }
  ]
}