{
  "id": 12243,
  "label": "iridogoniodysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011119",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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": [
    {
      "id": 9315,
      "label": "congenital microcoria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003635",
          "MEDGEN:227002",
          "MESH:C537550",
          "OMIM:156600",
          "Orphanet:566",
          "SCTID:400962005",
          "UMLS:C1303009"
        ],
        "synonyms": [
          "congenital miosis",
          "Mcor",
          "chromosome 13Q32 deletion syndrome",
          "microcoria, congenital",
          "miosis, congenital",
          "pinhole pupils"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007989"
    },
    {
      "id": 10066,
      "label": "aniridia-cerebellar ataxia-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        12243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111578",
          "GARD:0000013",
          "ICD9:759.89",
          "MEDGEN:96563",
          "MESH:C536370",
          "NORD:786",
          "OMIM:206700",
          "Orphanet:1065",
          "SCTID:253176002",
          "UMLS:C0431401"
        ],
        "synonyms": [
          "Aniridia Cerebellar Ataxia Mental Deficiency",
          "GILLESPIE syndrome",
          "GLSP",
          "Gillespie syndrome",
          "aniridia, cerebellar ataxia and mental deficiency",
          "aniridia, cerebellar ataxia, and intellectual disability",
          "aniridia, cerebellar ataxia, and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008795"
    },
    {
      "id": 13988,
      "label": "chromosome 6pter-p24 deletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12243,
        16087,
        17312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060422",
          "GARD:0016845",
          "MEDGEN:393396",
          "MESH:C567239",
          "OMIM:612582",
          "Orphanet:96125",
          "SCTID:718688008",
          "UMLS:C2675486"
        ],
        "synonyms": [
          "6p subtelomeric deletion syndrome",
          "6p25 microdeletion syndrome",
          "chromosome 6pter-p24 deletion syndrome",
          "chromosome 6pter-p24 deletion syndrome, isolated cases",
          "distal deletion 6p",
          "distal monosomy type 6p",
          "monosomy 6p25"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012948"
    },
    {
      "id": 18966,
      "label": "bilateral acute depigmentation of the iris",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12243,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018897",
          "MEDGEN:929727",
          "Orphanet:69736",
          "SCTID:720460007",
          "UMLS:C4304058"
        ],
        "synonyms": [
          "BADI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019074"
    },
    {
      "id": 19418,
      "label": "Rieger anomaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016482",
          "MEDGEN:78558",
          "MedDRA:10059198",
          "Orphanet:91483",
          "UMLS:C0265341"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly."
      },
      "child_count": 1,
      "reference_id": "MONDO:0019628"
    },
    {
      "id": 19420,
      "label": "congenital ectropion uveae",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019169",
          "MEDGEN:724517",
          "Orphanet:91491",
          "UMLS:C1303012"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019630"
    },
    {
      "id": 23975,
      "label": "FOXC1-related anterior segment dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026091"
        ],
        "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 FOXC1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100235"
    }
  ],
  "roots": [
    {
      "id": 19321,
      "label": "anterior segment dysgenesis"
    }
  ]
}