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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:early-onset non-syndromic cataract
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Accession:EFO:MONDO:0011060 term browser browse the term
Definition:Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.
Synonyms:related_synonym: cataract, age-related nuclear;   nuclear sclerosis of the lens
 alt_id: MONDO:0011060
 xref: GARD:16801;   MEDGEN:371326;   MIM:601371;   ORDO:91492;   UMLS:C1832423;   icd11.foundation:1080602978


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            cataract 0
              early-onset non-syndromic cataract 0
                Anterior polar cataract 0
                Cataract with Y-shaped suture opacities 0
                Partial congenital cataract 0
                Posterior polar cataract 0
                Total congenital cataract 0
                cataract 13 with adult I phenotype 0
                cataract 33 0
                cataract 38 0
                cataract 40 0
                cataract 43 0
                cataract 46 juvenile-onset 0
                cataract 5 multiple types 0
                cataract 8 multiple types 0
                early-onset partial cataract + 0
                pulverulent cataract 0
                total early-onset cataract 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          head and neck disorder 0
            disease of orbital region 0
              eye disease 0
                lens disease 0
                  cataract 0
                    early-onset non-syndromic cataract 0
                      Anterior polar cataract 0
                      Cataract with Y-shaped suture opacities 0
                      Partial congenital cataract 0
                      Posterior polar cataract 0
                      Total congenital cataract 0
                      cataract 13 with adult I phenotype 0
                      cataract 33 0
                      cataract 38 0
                      cataract 40 0
                      cataract 43 0
                      cataract 46 juvenile-onset 0
                      cataract 5 multiple types 0
                      cataract 8 multiple types 0
                      early-onset partial cataract + 0
                      pulverulent cataract 0
                      total early-onset cataract 0
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