Search Ontology:
Human Disease

Pierson syndrome

Term ID
DOID:0060852
Synonyms
  • microcoria-congenital nephrosis syndrome
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. (2)
References
Ontology
Human Disease   ( DOID:0060852 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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