Nanbyo Disease Ontology

Last uploaded: February 27, 2024

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Preferred Name	コステロ症候群
Synonyms	Costello症候群
ID	http://nanbyodata.jp/ontology/NANDO_2200971
description	先天的なＨＲＡＳ遺伝子の異常によって、成長・発達障害、精神発達の遅れ、特徴的な顔つき、緩い皮膚、巻き毛、乳頭腫、肥大型心筋症、悪性腫瘍の合併などがみられる遺伝性疾患。
altLabel	Costello症候群
closeMatch	http://purl.obolibrary.org/obo/MONDO_0009026
identifier	NANDO:2200971
label	コステロ症候群 Costello syndrome こすてろしょうこうぐん
prefLabel	Costello syndrome
seeAlso	http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2004 https://www.shouman.jp/disease/details/13_01_020/ http://nanbyodata.jp/ontology/NANDO_1200463
source	https://www.shouman.jp/archives/doc/doc_13_01_020_01.pdf
告示番号	13
subClassOf	http://nanbyodata.jp/ontology/NANDO_2100280

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009026	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009026	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0050469	DOID	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.185	RH-MESH	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050469	NATPRO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/309776008	SNOMEDCT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_574	HRDO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000601	DERMO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy5B00	RCTV2	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.256	RH-MESH	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14692	DERMLEX	LOOM
http://purl.obolibrary.org/obo/OMIT_0026684	OMIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C84652	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056685	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_3071	ORDO	LOOM
http://id.nlm.nih.gov/mesh/D056685	MDM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84652	NCIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.219	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039950	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/OMIM/218040	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0050469	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050469	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050469	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050469	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050469	FNS-H	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000725038	PDQ	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067380	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0009026	DOVES	LOOM
http://www.gamuts.net/entity#Costello_syndrome	GAMUTS	LOOM
http://purl.bioontology.org/ontology/MESH/D056685	MESH	LOOM