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Term:Pierson syndrome
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Accession:DOID:0060852 term browser browse the term
Definition:A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21. (DO)
Synonyms:exact_synonym: congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome;   microcoria and congenital nephrotic syndrome;   microcoria-congenital nephrosis syndrome;   microcoria-congenital nephrotic syndrome
 primary_id: MESH:C537185
 alt_id: OMIM:609049
 xref: GARD:9420;   NCI:C128145;   ORDO:2670
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Pierson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7207425
G Tns2 tensin 2 JBrowse link 7 143,702,623 143,720,995 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      nephrotic syndrome 113
        Pierson syndrome 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      Urogenital Diseases 4026
        urinary system disease 2026
          kidney disease 1811
            proteinuria 497
              nephrosis 233
                nephrotic syndrome 113
                  Pierson syndrome 2
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