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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, isolated autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
OMIM
ClinVar
PMID:2056446 PMID:2377351 PMID:19200529 PMID:20141359 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 16092
    sensory system disease 5168
      eye disease 2582
        Eye Abnormalities 352
          Ectopia Lentis 4
            isolated ectopia lentis 3
              autosomal recessive isolated ectopia lentis 2 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          eye disease 2582
            lens disease 198
              lens subluxation 5
                Ectopia Lentis 4
                  isolated ectopia lentis 3
                    autosomal recessive isolated ectopia lentis 2 1
paths to the root