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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: 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 gene 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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11/12/2024
MGI 6.24 		The Jackson Laboratory