{
  "id": 13506,
  "label": "congenital primary aphakia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012456",
  "properties": {
    "xrefs": [
      "DOID:0080607",
      "DOID:11367",
      "GARD:0009952",
      "ICD10CM:Q12.3",
      "ICD9:743.35",
      "MEDGEN:339935",
      "MESH:C537786",
      "MedDRA:10002947",
      "NCIT:C35172",
      "OMIM:610256",
      "Orphanet:83461",
      "SCTID:35387008",
      "UMLS:C1853230",
      "icd11.foundation:885383581"
    ],
    "synonyms": [
      "anterior segment dysgenesis 2, multiple subtypes",
      "aphakia, congenital primary",
      "congenital absence of lens",
      "congenital aphakia",
      "ASGD2",
      "CPA",
      "anterior segment dysgenesis 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3420,
      "label": "lens disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:110",
          "EFO:0009674",
          "ICD10CM:H25-H28",
          "ICD9:379.39",
          "MEDGEN:892382",
          "MESH:D007905",
          "NCIT:C26812",
          "SCTID:10810001",
          "UMLS:C0549651"
        ],
        "synonyms": [
          "disease of lens of camera-type eye",
          "disease or disorder of lens of camera-type eye",
          "disorder of lens of camera-type eye",
          "lens disorder",
          "lens of camera-type eye disease",
          "lens of camera-type eye 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 lens of camera-type eye."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001176"
    },
    {
      "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": 3420,
      "label": "lens disorder"
    },
    {
      "id": 19321,
      "label": "anterior segment dysgenesis"
    }
  ]
}