WormBase Tree Display for DO_term: DOID:0060852
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| DOID:0060852 | Name | Pierson syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | microcoria-congenital nephrosis syndrome | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 609049 | |
| Attribute_of | Gene_by_orthology | WBGene00002247 |
