FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Pierson syndrome ID (Ontology) DOID:0060852 (Human Disease)
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.
Also Known As "microcoria-congenital nephrosis syndrome"
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 Genes
 Pierson syndrome       1
 for disease ribbon | Pierson syndrome       1
 model of | Pierson syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Pierson syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "microcoria-congenital nephrosis syndrome" EXACT
Secondary IDs
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GARD:9420
MESH:C537185
MIM:609049
NCI:C128145
ORDO:2670
SNOMEDCT_US_2023_03_01:723449004
UMLS_CUI:C1836876