Preferred Name

Senior-Loken syndrome

Synonyms

Loken Senior syndrome

renal-retinal syndrome

Definitions

A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050576

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

alternative label

Loken Senior syndrome

renal-retinal syndrome

database_cross_reference

OMIM:606995

OMIM:606996

OMIM:610189

OMIM:PS266900

OMIM:266900

ICD10CM:Q61.5

OMIM:609254

OMIM:613615

MESH:C537580

GARD:322

ORDO:3156

definition

A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.

Xref MGI. OMIM mapping confirmed by DO. [SN].

has exact synonym

Loken Senior syndrome

renal-retinal syndrome

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0050576

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Senior-Loken syndrome

notation

DOID:0050576

note

A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.

Xref MGI. OMIM mapping confirmed by DO. [SN].

preferred label

Senior-Loken syndrome

prefLabel

Senior-Loken syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225

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