{
  "id": 3420,
  "label": "lens disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001176",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 3506,
      "label": "lens subluxation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3420
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11364",
          "HP:0001132",
          "ICD10CM:H27.11",
          "ICD9:379.32",
          "MEDGEN:9718",
          "MESH:D007906",
          "NCIT:C34772",
          "SCTID:65814009",
          "UMLS:C0023316",
          "icd11.foundation:254522648"
        ],
        "synonyms": [
          "lens subluxation",
          "lens subluxation (disease)",
          "subluxation of lens"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A partial dislocation of the lens of the eye."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001271"
    },
    {
      "id": 4079,
      "label": "posterior dislocation of lens",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3420
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14199",
          "ICD10CM:H27.13",
          "ICD9:379.34",
          "MEDGEN:509942",
          "SCTID:14169000",
          "UMLS:C0155373",
          "icd11.foundation:516761725"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0001906"
    },
    {
      "id": 6853,
      "label": "cataract",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3420,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:83",
          "HP:0000518",
          "ICD9:366",
          "ICD9:366.44",
          "ICD9:366.8",
          "ICD9:366.9",
          "MEDGEN:39462",
          "MESH:D002386",
          "NCIT:C26713",
          "OMIMPS:116200",
          "SCTID:193570009",
          "UMLS:C0086543",
          "icd11.foundation:109841337"
        ],
        "synonyms": [
          "cataract",
          "cataract (disease)",
          "opacity of the lens"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)"
      },
      "child_count": 58,
      "reference_id": "MONDO:0005129"
    },
    {
      "id": 8607,
      "label": "blepharoptosis-myopia-ectopia lentis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3420
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000912",
          "MEDGEN:400006",
          "MESH:C536236",
          "OMIM:110150",
          "Orphanet:1259",
          "SCTID:717915004",
          "UMLS:C1862259"
        ],
        "synonyms": [
          "blepharoptosis myopia ectopia lentis",
          "blepharoptosis, myopia, and ectopia lentis",
          "dominantly inherited blepharoptosis, high myopia, and ectopia lentis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007202"
    },
    {
      "id": 10584,
      "label": "classic homocystinuria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3420,
        6511,
        16198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006667",
          "MEDGEN:199606",
          "MedDRA:10071093",
          "NANDO:1201039",
          "NORD:1249",
          "OMIM:236200",
          "Orphanet:394",
          "SCTID:24308003",
          "UMLS:C0751202"
        ],
        "synonyms": [
          "Homocystinuria due to Cystathionine Beta-Synthase Deficiency",
          "classic homocystinuria",
          "cystathionine beta-synthase deficiency",
          "homocystinuria due to cystathionine beta-synthase deficiency",
          "homocystinuria, B6-responsive and nonresponsive types",
          "thrombosis, hyperhomocysteinemic",
          "CBS deficiency",
          "homocystinuria due to CBS deficiency",
          "homocystinuria with or without response to pyridoxine",
          "hyperhomocysteinemia, thrombotic, CBS-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009352"
    },
    {
      "id": 12232,
      "label": "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3420,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017688",
          "MEDGEN:330396",
          "MESH:C563293",
          "OMIM:601552",
          "Orphanet:412022",
          "UMLS:C1832167"
        ],
        "synonyms": [
          "FDLAB syndrome",
          "Traboulsi syndrome",
          "facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome",
          "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",
          "FDLAB",
          "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism",
          "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011106"
    },
    {
      "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": 16639,
      "label": "ectopia lentis-chorioretinal dystrophy-myopia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3420,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003999",
          "MEDGEN:419715",
          "MESH:C536124",
          "Orphanet:1884",
          "SCTID:722437006",
          "UMLS:C2931115"
        ],
        "synonyms": [
          "noble-Bass-Sherman syndrome",
          "ectopia lentis chorioretinal dystrophy myopia",
          "noble Bass Sherman syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015997"
    },
    {
      "id": 16640,
      "label": "isolated ectopia lentis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3420
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111148",
          "GARD:0012251",
          "MEDGEN:342716",
          "MESH:C536184",
          "MedDRA:10014145",
          "NCIT:C34566",
          "Orphanet:1885",
          "PMID:20141359",
          "SCTID:74969002",
          "UMLS:C1851286"
        ],
        "synonyms": [
          "ectopia lentis syndrome",
          "familial ectopia lentis",
          "isolated lens position anomaly",
          "nonsyndromic lens position anomaly",
          "congenital ectopic lens"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015998"
    },
    {
      "id": 19194,
      "label": "encephalopathy due to sulfite oxidase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3420,
        16198,
        19088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016549",
          "MEDGEN:894927",
          "Orphanet:833",
          "SCTID:715980003",
          "UMLS:C4275019",
          "icd11.foundation:681037681"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019358"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    }
  ]
}