ONTOLOGY REPORT - ANNOTATIONS


Term:megalocornea
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Accession:DOID:0060305 term browser browse the term
Definition:A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure. It has material basis in mutation in the CHRDL1 gene. (DO)
Synonyms:exact_synonym: MGC1;   MGCN;   anterior megalophthalmos;   congenital anterior megalophthalmia
 primary_id: MESH:C562829
 alt_id: OMIM:249300;   OMIM:309300;   RDO:0012378
 xref: ORDO:91489
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megalocornea term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrdl1 chordin-like 1 JBrowse link X 114,554,359 114,658,975 RGD:8554872
RGD:7240710
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      eye and adnexa disease 1985
        eye disease 1985
          corneal disease 165
            megalocornea 2
              Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              corneal disease 165
                megalocornea 2
                  Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.