{
  "id": 11209,
  "label": "anterior segment dysgenesis 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010015",
  "properties": {
    "xrefs": [
      "DOID:0080612",
      "GARD:0017327",
      "MEDGEN:462967",
      "OMIM:269400",
      "Orphanet:289499",
      "UMLS:C3151617"
    ],
    "synonyms": [
      "CCMCO",
      "PXDN anterior segment dysgenesis",
      "PXDN-related ocular dysgenesis",
      "anterior segment dysgenesis 7",
      "anterior segment dysgenesis 7, with sclerocornea",
      "anterior segment dysgenesis caused by mutation in PXDN",
      "sclerocornea with other ocular anomalies",
      "ASGD7",
      "COPOA",
      "congenital cataract microcornea with corneal opacity",
      "corneal opacification and other ocular anomalies",
      "corneal opacification with Other ocular anomalies",
      "corneal opacification with other ocular anomalies",
      "sclerocornea with Other ocular anomalies"
    ],
    "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 PXDN 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"
    },
    {
      "id": 19419,
      "label": "sclerocornea",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3211
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060252",
          "GARD:0016800",
          "HP:0000647",
          "MEDGEN:344000",
          "MESH:C565209",
          "Orphanet:91490",
          "UMLS:C1853235",
          "icd11.foundation:995798428"
        ],
        "synonyms": [
          "isolated congenital sclerocornea",
          "sclerocornea",
          "sclerocornea (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019629"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19321,
      "label": "anterior segment dysgenesis"
    },
    {
      "id": 19419,
      "label": "sclerocornea"
    }
  ]
}