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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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           Sort by:
 
megalocornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Megalocornea ClinVar
OMIM
PMID:22284829 PMID:25093588 PMID:25741868 PMID:26938784 NCBI chr  X:114,554,359...114,658,975
Ensembl chr  X:114,554,359...114,658,931
JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO OMIM NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    sensory system disease 5584
      eye disease 2725
        Hereditary Eye Diseases 631
          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 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            X-linked monogenic disease 1017
              X-linked recessive disease 379
                megalocornea 2
                  Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
paths to the root