{
  "id": 19321,
  "label": "anterior segment dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019503",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 8550,
      "label": "anterior segment dysgenesis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060605",
          "DOID:0080606",
          "GARD:0024525",
          "MEDGEN:1631197",
          "OMIM:107250",
          "UMLS:C4551992"
        ],
        "synonyms": [
          "anterior segment dysgenesis 1",
          "anterior segment dysgenesis 1, multiple subtypes",
          "ASGD1",
          "ASMD",
          "anterior segment mesenchymal dysgenesis",
          "anterior segment ocular dysgenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007138"
    },
    {
      "id": 11209,
      "label": "anterior segment dysgenesis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19321,
        19419
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010015"
    },
    {
      "id": 12243,
      "label": "iridogoniodysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050786",
          "GARD:0016484",
          "MEDGEN:861486",
          "Orphanet:98634",
          "UMLS:C4013049",
          "icd11.foundation:2030725523"
        ],
        "synonyms": [
          "IRID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0011119"
    },
    {
      "id": 12519,
      "label": "Peters anomaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3211,
        19321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060673",
          "DOID:0080610",
          "GARD:0007377",
          "HP:0000659",
          "ICD9:743.44",
          "MEDGEN:91031",
          "MESH:C537884",
          "MedDRA:10059202",
          "OMIM:604229",
          "Orphanet:708",
          "SCTID:204153003",
          "UMLS:C0344559",
          "icd11.foundation:1902926622"
        ],
        "synonyms": [
          "Peters anomaly",
          "Peters anomaly (disease)",
          "Peters congenital glaucoma",
          "anterior segment dysgenesis 5, multiple subtypes",
          "ASGD5",
          "anterior segment dysgenesis 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011414"
    },
    {
      "id": 13506,
      "label": "congenital primary aphakia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3420,
        19321
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012456"
    },
    {
      "id": 15992,
      "label": "anterior segment dysgenesis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19321,
        25057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080611",
          "GARD:0025051",
          "MEDGEN:934590",
          "OMIM:617315",
          "UMLS:C4310623"
        ],
        "synonyms": [
          "ASGD6",
          "anterior segment dysgenesis 6",
          "anterior segment dysgenesis 6, multiple subtypes",
          "anterior segment dysgenesis type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015016"
    },
    {
      "id": 15993,
      "label": "anterior segment dysgenesis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19321
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015017"
    },
    {
      "id": 22742,
      "label": "isolated iridoschisis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022125",
          "MEDGEN:509720",
          "Orphanet:519392",
          "UMLS:C0154919",
          "icd11.foundation:1870961422"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033810"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}