ONTOLOGY REPORT - ANNOTATIONS


Term:Pierson syndrome
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Accession:DOID:0060852 term browser browse the term
Definition:An autosomal recessive disease 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;   RDO:0002974
 xref: GARD:9420;   ORDO:2670
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Pierson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8554872
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7207425
RGD:8554872
RGD:7240710
RGD:11554173
G Tns2 tensin 2 JBrowse link 7 143,702,623 143,720,995 RGD:13592920

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Path 1
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  disease 14875
    syndrome 4220
      nephrotic syndrome 106
        Pierson syndrome 3
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        urinary system disease 2009
          kidney disease 1805
            proteinuria 513
              nephrosis 230
                nephrotic syndrome 106
                  Pierson syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.