| Metadata | |
|---|---|
| ID | DOID:0060852 |
| Name | Pierson 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. https://www.ncbi.nlm.nih.gov/pubmed/15367484, https://www.ncbi.nlm.nih.gov/pubmed/15372515 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723449004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
microcoria-congenital nephrosis syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |