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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: ADAMTS18-RELATED CONDITION;   MMCAT
 primary_id: OMIM:615458


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 term: ADAMTS18-related condition | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22686506 PMID:23818446 PMID:24874986 PMID:25741868 PMID:28492532 More... NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        microphthalmia 214
          Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              corneal disease 233
                corneal dystrophy 52
                  Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
paths to the root