Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024

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Preferred Name	Senior-Loken syndrome
Synonyms	Senior Loken syndrome renal dysplasia retinal aplasia nephronophthisis with retinal dystrophy SLSN Loken Senior syndrome renal dysplasia-retinal aplasia syndrome renal-retinal syndrome
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://purl.obolibrary.org/obo/MONDO_0017842
closeMatch	http://linkedlifedata.com/resource/umls/id/C0403553
database_cross_reference	DOID:0050576 MESH:C537580 ICD10:Q61.5 UMLS:CN117960 Orphanet:3156 GARD:0000322 OMIMPS:266900
disease has feature	http://purl.obolibrary.org/obo/HP_0000090
exactMatch	http://linkedlifedata.com/resource/umls/id/CN117960 http://identifiers.org/mesh/C537580 http://www.orpha.net/ORDO/Orphanet_3156 http://purl.obolibrary.org/obo/DOID_0050576
has exact synonym	nephronophthisis with retinal dystrophy SLSN Loken Senior syndrome renal dysplasia-retinal aplasia syndrome renal-retinal syndrome
has related synonym	Senior Loken syndrome renal dysplasia retinal aplasia
id	MONDO:0017842
imported from	http://purl.obolibrary.org/obo/mondo.owl
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease
label	Senior-Loken syndrome
notation	MONDO:0017842
prefLabel	Senior-Loken syndrome
should_conform_to	http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
textual 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.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0022409 http://purl.obolibrary.org/obo/MONDO_0019744 http://purl.obolibrary.org/obo/MONDO_0020238 http://purl.obolibrary.org/obo/MONDO_0022410 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0015962

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0017842	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017842	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017842	DOVES	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/DOID_0050576	DOID	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/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