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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:Craniosynostosis with Ectopia Lentis
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Accession:DOID:9000218 term browser browse the term
Synonyms:primary_id: MESH:C566357
 alt_id: OMIM:603595


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Craniosynostosis with Ectopia Lentis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        Eye Abnormalities 778
          Ectopia Lentis 7
            Craniosynostosis with Ectopia Lentis 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
              lens disease 456
                lens subluxation 8
                  Ectopia Lentis 7
                    Craniosynostosis with Ectopia Lentis 1
paths to the root