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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:Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
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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.



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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 term: Microcornea, myopic chorioretinal atrophy, and telecanthus OMIM
ClinVar
PMID:22686506 PMID:23818446 PMID:24874986 PMID:25741868 PMID:28492532 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      eye disease 2961
        Eye Abnormalities 462
          Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        Congenital Abnormalities 6810
          Musculoskeletal Abnormalities 2818
            Craniofacial Abnormalities 2387
              Telecanthus 6
                Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
paths to the root