ONTOLOGY REPORT - ANNOTATIONS


Term:macular corneal dystrophy
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Accession:DOID:2565 term browser browse the term
Definition:A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. (DO)
Synonyms:exact_synonym: Fehr corneal dystrophy;   Groenouw type II corneal dystrophy;   Macular Corneal Dystrophy, Type I;   Macular Dystrophy, Corneal Type 1;   Macular Dystrophy, Corneal, 1;   Mcd;   corneal dystrophy, macular type;   corneal macular dystrophies
 narrow_synonym: MACULAR CORNEAL DYSTROPHY, TYPE II;   MCDC1
 primary_id: MESH:C537834
 alt_id: OMIA:002071;   OMIM:217800;   RDO:0003740
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macular corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst5 carbohydrate sulfotransferase 5 JBrowse link 19 44,115,065 44,136,092 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          Hereditary Eye Diseases 504
            corneal dystrophy 39
              macular corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        sensory system disease 4270
          eye and adnexa disease 1996
            eye disease 1996
              corneal disease 165
                corneal dystrophy 39
                  stromal dystrophy 5
                    macular corneal dystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.