Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

Senior-Loken syndrome 1

Synonyms

Senior-Loken syndrome

SENIOR-Loken syndrome 1

renal dysplasia and retinal aplasia

renal-retinal syndrome

juvenile nephronophthisis with Leber amaurosis

Loken-Senior syndrome

SLSN1

senior-loken syndrome-1

NPHP1 Senior-Loken syndrome

Senior-Loken syndrome 1

Senior-Loken syndrome caused by mutation in NPHP1

Senior-Loken syndrome type 1

Definitions

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0009962

database_cross_reference

ICD9:759.89

OMIM:266900

SCTID:236531005

definition

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.

exactMatch

http://identifiers.org/snomedct/236531005

https://omim.org/entry/266900

has_exact_synonym

senior-loken syndrome-1

NPHP1 Senior-Loken syndrome

Senior-Loken syndrome 1

Senior-Loken syndrome caused by mutation in NPHP1

Senior-Loken syndrome type 1

has_related_synonym

Senior-Loken syndrome

SENIOR-Loken syndrome 1

renal dysplasia and retinal aplasia

renal-retinal syndrome

juvenile nephronophthisis with Leber amaurosis

Loken-Senior syndrome

SLSN1

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0009962

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

Senior-Loken syndrome 1

notation

MONDO:0009962

preferred label

Senior-Loken syndrome 1

prefLabel

Senior-Loken syndrome 1

subClassOf

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

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