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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 ADAMTSL4 on chromosome 1q21.2. (DO)
Synonyms:exact_synonym: Ectopia Lentis et Pupillae
 primary_id: MESH:C563268
 alt_id: OMIM:225200
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:225200
ClinVar Annotator: match by term: Ectopia lentis et pupillae
OMIM
ClinVar
PMID:2056446, PMID:20564469, PMID:20702823, PMID:21051722, PMID:22736615, PMID:22871183, PMID:24033266, PMID:25741868, PMID:25975359, PMID:28492532, PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        pupil disease 11
          ectopia lentis with ectopia of pupil 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            lens disease 220
              lens subluxation 5
                Ectopia Lentis 4
                  ectopia lentis with ectopia of pupil 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.