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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:Rare genetic eye disease
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Accession:EFO:Orphanet:101435 term browser browse the term
Synonyms:exact_synonym: Rare genetic ophthalmologic disease



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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Rare genetic eye disease 0
              Blindness-scoliosis-arachnodactyly syndrome 0
              Central cloudy dystrophy of Francois 0
              Connective tissue disease with eye involvement + 0
              Corneal dystrophy - perceptive deafness 0
              Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 0
              Ectodermal malformation syndrome associated with ocular features + 0
              Familial amyloidosis, Finnish type 0
              Fuchs endothelial corneal dystrophy 0
              Genetic developmental defect of the eye + 0
              Genetic lens and zonula anomaly + 0
              Genetic neuro-ophthalmological disease + 0
              Genetic vitreous-retinal disease + 0
              Genodermatosis with ocular features + 0
              Metabolic disease associated with ocular features + 0
              Microcystic corneal dystrophy 0
              Optic neuropathy + 0
              Rare disease with glaucoma as a major feature + 0
              Rare genetic palpebral, lacrimal system and conjunctival disease + 0
              Rare genetic refraction anomaly + 0
              Reis-Bücklers corneal dystrophy 0
              Spastic ataxia - corneal dystrophy 0
              Subaortic stenosis - short stature 0
              X-linked reticulate pigmentary disorder with systemic manifestations 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
                Rare genetic eye disease 0
                  Blindness-scoliosis-arachnodactyly syndrome 0
                  Central cloudy dystrophy of Francois 0
                  Connective tissue disease with eye involvement + 0
                  Corneal dystrophy - perceptive deafness 0
                  Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 0
                  Ectodermal malformation syndrome associated with ocular features + 0
                  Familial amyloidosis, Finnish type 0
                  Fuchs endothelial corneal dystrophy 0
                  Genetic developmental defect of the eye + 0
                  Genetic lens and zonula anomaly + 0
                  Genetic neuro-ophthalmological disease + 0
                  Genetic vitreous-retinal disease + 0
                  Genodermatosis with ocular features + 0
                  Metabolic disease associated with ocular features + 0
                  Microcystic corneal dystrophy 0
                  Optic neuropathy + 0
                  Rare disease with glaucoma as a major feature + 0
                  Rare genetic palpebral, lacrimal system and conjunctival disease + 0
                  Rare genetic refraction anomaly + 0
                  Reis-Bücklers corneal dystrophy 0
                  Spastic ataxia - corneal dystrophy 0
                  Subaortic stenosis - short stature 0
                  X-linked reticulate pigmentary disorder with systemic manifestations 0
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