Nanbyo Disease Ontology

Last uploaded: February 27, 2024

Preferred Name	Marinesco-Sjogren syndrome
Synonyms	MSS Marinesco-Sjogren症候群
ID	http://nanbyodata.jp/ontology/NANDO_1200485
description	マリネスコ・シェーグレン症候群は、小脳失調、精神発達遅滞、先天性白内障、ミオパチーを特徴とする乳幼児期発症の難治性疾患である。
altLabel	MSS Marinesco-Sjogren症候群
closeMatch	http://purl.obolibrary.org/obo/MONDO_0009567
identifier	NANDO:1200485
label	Marinesco-Sjogren syndrome マリネスコ・シェーグレン症候群まりねすこ・しぇーぐれんしょうこうぐん
prefLabel	Marinesco-Sjogren syndrome
seeAlso	https://www.nanbyou.or.jp/entry/4787 http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2552 https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01284
source	https://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/112-201704-kojin.pdf
告示番号	112
subClassOf	http://nanbyodata.jp/ontology/NANDO_1100001

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009567	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009567	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080195	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0009567	DOVES	LOOM
http://purl.obolibrary.org/obo/DOID_0080195	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080195	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080195	FNS-H	LOOM
http://purl.bioontology.org/ontology/RCD/X002H	RCD	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00607	SNMI	LOOM
http://purl.bioontology.org/ontology/OMIM/248800	OMIM	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15004	DERMLEX	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0024814	OCHV	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7756	OCHV	LOOM