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Disease Ontology Browser
Pierson syndrome (DOID:0060852)
Alliance: disease page
Synonyms: microcoria-congenital nephrosis syndrome
Alt IDs: OMIM:609049, MESH:C537185, NCI:C128145, ORDO:2670, UMLS_CUI:C1836876
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.14
The Jackson Laboratory