loading...| Preferred Name |
Pierson syndrome |
| Synonyms |
microcoria-congenital nephrosis syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060852 |
| database_cross_reference |
MESH:C537185 UMLS_CUI:C1836876 OMIM:609049 SNOMEDCT_US_2022_09_01:723449004 NCI:C128145 ORDO:2670 GARD:9420 |
| 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. |
| has exact synonym |
microcoria-congenital nephrosis syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060852 |
| in_subset | |
| label |
Pierson syndrome |
| notation |
DOID:0060852 |
| prefLabel |
Pierson syndrome |
| subClassOf |