Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
go back to main search page
Accession:DOID:9000789 term browser browse the term
Synonyms:exact_synonym: MMCAT
 primary_id: OMIM:615458;   RDO:9000954
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by OMIM:615458
ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
OMIM
ClinVar
PMID:22686506 PMID:23818446 NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        Eye Abnormalities 353
          Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Musculoskeletal Abnormalities 1683
            Craniofacial Abnormalities 1418
              Telecanthus 6
                Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
paths to the root