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ONTOLOGY REPORT - ANNOTATIONS


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
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autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      eye disease 2390
        Eye Abnormalities 332
          Ectopia Lentis 4
            isolated ectopia lentis 3
              autosomal recessive isolated ectopia lentis 2 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          eye disease 2390
            lens disease 196
              lens subluxation 5
                Ectopia Lentis 4
                  isolated ectopia lentis 3
                    autosomal recessive isolated ectopia lentis 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.