Experimental Factor Ontology

Last uploaded: May 15, 2024
Preferred Name

familial nephrotic syndrome

Synonyms

congenital nephrotic syndrome

hereditary nephrotic syndrome

Definitions

An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.

ID

http://purl.obolibrary.org/obo/MONDO_0002350

database_cross_reference

OMIMPS:256300

UMLS:C3501848

NCIT:C35337

SCTID:48796009

DOID:2590

definition

An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.

exactMatch

https://omim.org/phenotypicSeries/PS256300

http://identifiers.org/snomedct/48796009

http://linkedlifedata.com/resource/umls/id/C3501848

http://purl.obolibrary.org/obo/DOID_2590

http://purl.obolibrary.org/obo/NCIT_C35337

has_exact_synonym

congenital nephrotic syndrome

hereditary nephrotic syndrome

id

MONDO:0002350

in_subset

http://purl.obolibrary.org/obo/mondo#otar

label

familial nephrotic syndrome

notation

MONDO:0002350

prefLabel

familial nephrotic syndrome

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100191

http://www.ebi.ac.uk/efo/EFO_0004255

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