LAMB2-related infantile-onset nephrotic syndrome

LAMB2-related infantile-onset nephrotic syndrome

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 ]

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database cross reference

Orphanet:306507 (OMIM:614199)
DOID:0080380 (MONDO:equivalentTo)
UMLS:C3280113 (OMIM:614199)
OMIM:614199 (Orphanet:306507/e)

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otar

abbreviation

NPHS5 [ https://omim.org/entry/614199 MONDO:Lexical ]

exactMatch

https://omim.org/entry/614199

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

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

has related synonym

nephrotic syndrome, type 5, with or without ocular abnormalities

NPHS5

MONDO:0013621

Term relations

Equivalent to:

nephrotic syndrome and has material basis in germline mutation in some LAMB2

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