Nanbyo Disease Ontology

Last uploaded: February 27, 2024

Preferred Name	X連鎖リンパ増殖症候群
Synonyms	XLP
ID	http://nanbyodata.jp/ontology/NANDO_2200725
description	XLPは、EBウイルスに対する特異的免疫応答の欠陥を認める先天性免疫不全症である。現在、原因遺伝子が2つ知られ、SAP/SH2D1A遺伝子異常によるSAP (SLAM-associated protein) 欠損症をXLP1、XIAP/BIRC4遺伝子異常によるXIAP (X-linked inhibitor of apoptosis) 欠損症をXLP2と呼ぶ。
altLabel	XLP
closeMatch	http://purl.obolibrary.org/obo/MONDO_0010627
identifier	NANDO:2200725
label	えっくすれんさりんぱぞうしょくしょうこうぐん X-linked lymphoproliferative syndrome X連鎖リンパ増殖症候群
prefLabel	X-linked lymphoproliferative syndrome
seeAlso	https://www.shouman.jp/disease/details/10_04_032/ http://nanbyodata.jp/ontology/NANDO_1200351
source	https://www.shouman.jp/archives/doc/doc_10_04_032_01.pdf
告示番号	41
subClassOf	http://nanbyodata.jp/ontology/NANDO_2100206

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0010627	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010627	MONDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61246	NCIT	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/77121009	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010627	DOVES	LOOM
http://purl.bioontology.org/ontology/SNMI/DC-51500	SNMI	LOOM
http://purl.obolibrary.org/obo/NCIT_C61246	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068348	MEDDRA	LOOM
http://www.gamuts.net/entity#X_linked_lymphoproliferative_syndrome	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DERMO_0003018	DERMO	LOOM
http://purl.bioontology.org/ontology/RCD/X20Ik	RCD	LOOM