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DO Term : Pierson syndrome [DOID:0060852] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:723449004,
  • ORDO:2670,
  • NCI:C128145,
  • GARD:9420,
  • 609049,
  • UMLS_CUI:C1836876,
  • OMIM:609049,
  • MESH:C537185,
  • microcoria-congenital nephrosis syndrome
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Ontology Term --> Direct children

Ontology Term --> Direct parents