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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

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Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                autosomal recessive isolated ectopia lentis 2 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              lens disease 194
                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.