Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

obsolete_Senior-Loken syndrome

Synonyms

Nephronophthisis with retinal dystrophy

Renal dysplasia - retinal aplasia

SLSN

Definitions

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

ID

http://www.orpha.net/ORDO/Orphanet_3156

Obsolete

true

database_cross_reference

OMIM:606995

OMIM:606996

OMIM:616629

OMIM:614845

MedDRA:10084074

OMIM:616307

MeSH:C537580

OMIM:610189

ICD10:Q61.5

OMIM:266900

OMIM:609254

OMIM:613615

definition

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

definition_citation

orphanet

deprecated

true

has_exact_synonym

Nephronophthisis with retinal dystrophy

Renal dysplasia - retinal aplasia

SLSN

label

obsolete_Senior-Loken syndrome

obsoleted_in_version

3.41.0

preferred label

obsolete_Senior-Loken syndrome

prefLabel

obsolete_Senior-Loken syndrome

reason_for_obsolescence

Replaced with Mondo term.

term replaced by

http://purl.obolibrary.org/obo/MONDO_0017842

subClassOf

http://www.w3.org/2002/07/owl#Thing

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