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: DOID:9005636;   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

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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                autosomal recessive isolated ectopia lentis 2 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              lens disease 189
                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.