OBO ID: DOID:0060852
Term Name: Pierson syndrome Search Ontology:
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 on chromosome 3p21. (2)
References:
Ontology: Human Disease   (DOID:0060852)
OTHER Pierson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMB2 Pierson syndrome 609049
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None