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ONTOLOGY REPORT - ANNOTATIONS


Term:megalocornea
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Accession:DOID:0060305 term browser browse the term
Definition:A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that 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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 15609
    sensory system disease 4769
      eye disease 2338
        Hereditary Eye Diseases 528
          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 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            X-linked monogenic disease 854
              X-linked recessive disease 212
                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.