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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:ectopia lentis with ectopia of pupil
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Accession:DOID:0111648 term browser browse the term
Definition:An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. (DO)
Synonyms:exact_synonym: Ectopia Lentis et Pupillae
 broad_synonym: ADAMTSL4-RELATED CONDITION
 primary_id: MESH:C563268
 alt_id: OMIM:225200


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ectopia lentis with ectopia of pupil 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: Ectopia lentis et pupillae OMIM
ClinVar		 PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 1:125,893,739...125,905,337
Ensembl chr 1:129,541,795...129,553,376 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        pupil disease 26
          ectopia lentis with ectopia of pupil 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              lens disease 428
                lens subluxation 8
                  Ectopia Lentis 7
                    ectopia lentis with ectopia of pupil 1
paths to the root