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LAMB2-related infantile-onset nephrotic syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0013621

LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. [ Orphanet:306507 ]

Synonyms: mesangial sclerosis, diffuse renal, with ocular abnormalities

This is just here as a test because I lose it

Term information

database cross reference
Subsets

otar

exactMatch

https://omim.org/entry/614199

http://www.orpha.net/ORDO/Orphanet_306507

http://linkedlifedata.com/resource/umls/id/C3280113

http://purl.obolibrary.org/obo/DOID_0080380

http://identifiers.org/mesh/C565405

http://identifiers.org/medgen/481743

has related synonym

nephrotic syndrome, type 5, with or without ocular abnormalities

NPHS5

id

MONDO:0013621

term tracker item

https://github.com/monarch-initiative/mondo/issues/7329