Human Disease Ontology

Last uploaded: June 28, 2024
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].

database_cross_reference

MIM:PS266900

ICD10CM:Q61.5

MESH:C537580

GARD:322

MIM:266900

MIM:606995

MIM:606996

MIM:609254

MIM:610189

MIM:613615

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.

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

prefLabel

Senior-Loken syndrome

subClassOf

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

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050576 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050576 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050576 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050576 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050576 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0050576 DDSS LOOM
http://www.orpha.net/ORDO/Orphanet_3156 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2824 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_1201049 NANDO LOOM
rgo:16260 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0017842 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017842 MONDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084074 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537580 RH-MESH LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#IRD_6_14 HAMIDEHSGH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168588 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C168588 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_3156 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/C537580 MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0017842 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0017842 KTAO LOOM
http://purl.obolibrary.org/obo/DOID_0050576 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050576 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050576 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050576 FNS-H LOOM
http://www.gamuts.net/entity#Senior_Loken_syndrome GAMUTS REST