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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:autosomal recessive isolated ectopia lentis 2
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Accession:DOID:0111149 term browser browse the term
Definition:An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: ECTOL2;   Isolated Ectopia Lentis, Autosomal Recessive
 primary_id: MESH:C567124
 alt_id: OMIM:225100;   RDO:0008281;   RDO:0015283
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive isolated ectopia lentis 2 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 2, isolated, autosomal recessive OMIM
ClinVar
PMID:2056446 PMID:2377351 PMID:19200529 PMID:20141359 PMID:20564469 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      eye disease 2937
        Eye Abnormalities 461
          Ectopia Lentis 6
            isolated ectopia lentis 3
              autosomal recessive isolated ectopia lentis 2 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          eye disease 2937
            lens disease 313
              lens subluxation 7
                Ectopia Lentis 6
                  isolated ectopia lentis 3
                    autosomal recessive isolated ectopia lentis 2 1
paths to the root