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Metadata
ID DOID:0060852
Name Pierson syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/15367484, https://www.ncbi.nlm.nih.gov/pubmed/15372515
Xrefs

GARD:9420

MESH:C537185

NCI:C128145

OMIM:609049

ORDO:2670

UMLS_CUI:C1836876

Subsets

NCIthesaurus

Synonyms

microcoria-congenital nephrosis syndrome [EXACT]

Parent Relationships

is_a autosomal recessive disease

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