ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant isolated ectopia lentis 1
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Accession:DOID:0111150 term browser browse the term
Definition:An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: ECTOL1
 primary_id: OMIM:129600
 alt_id: RDO:0007964
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autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal dominant disease 1095
                autosomal dominant isolated ectopia lentis 1 1
Path 2
Term Annotations click to browse term
  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 dominant isolated ectopia lentis 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.