Nanbyo Disease Ontology

Last uploaded: February 27, 2024

Preferred Name	カウデン症候群
Synonyms	Cowden症候群
ID	http://nanbyodata.jp/ontology/NANDO_2200918
description	カウデン症候群は、皮膚・粘膜、消化管、乳腺、甲状腺、中枢神経、泌尿生殖器などに良性の過誤腫性病変が多発する常染色体優性遺伝性疾患である。巨頭症、過誤腫性大腸ポリポーシス、脂肪腫および陰茎亀頭の色素斑を特徴とする先天性疾患であるバナヤン・ライリー・ルバルカバ症候群（Bannayan-Riley-Ruvalcaba syndrome，以下BRRS）は先天性の重症型として扱う。
altLabel	Cowden症候群
closeMatch	http://purl.obolibrary.org/obo/MONDO_0016063
identifier	NANDO:2200918
label	かうでんしょうこうぐんカウデン症候群 Cowden syndrome
prefLabel	Cowden syndrome
seeAlso	https://www.shouman.jp/disease/details/12_02_012/ https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01222
source	https://www.shouman.jp/archives/doc/doc_12_02_012_01.pdf
告示番号	38
subClassOf	http://nanbyodata.jp/ontology/NANDO_2100257

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_6457	DOID	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01005	SNMI	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051915	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/58037000	SNOMEDCT	LOOM
urn:agi-pathway:uuid-fd651c77-1c77-4357-b506-191f2e130d9b	BPT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3471	NATPRO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0018553	OCHV	LOOM
http://www.orpha.net/ORDO/Orphanet_201	ORDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C3076	BERO	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000601787	PDQ	LOOM
http://www.gamuts.net/entity#Cowden_syndrome	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_6457	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_6457	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_6457	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_6457	FNS-H	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_243	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3076	NCIT	LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy0500	RCTV2	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17737	DERMLEX	LOOM
rgo:29713	GAMUTS	LOOM
rgo:29713	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_6457	DOID	LOOM