Nanbyo Disease Ontology

Last uploaded: February 27, 2024
Preferred Name

Protein S deficiency

Synonyms

Heritable thrombophilia

ID

http://nanbyodata.jp/ontology/NANDO_1201081

description

特発性血栓症(遺伝性血栓性素因によるものに限る。)は、血液凝固制御因子のプロテインC(PC)、プロテインS(PS)及びアンチトロンビン(AT)の先天的欠乏により病的血栓傾向となり、若年性に重篤な血栓症を発症する疾患群である。新生児・乳児期には脳出血・梗塞や電撃性紫斑病などを引き起こし、小児期・成人では時に致死性となる静脈血栓塞栓症の若年発症や繰り返す再発の原因となる。

altLabel

Heritable thrombophilia

Congenital protein S deficiency

closeMatch

http://purl.obolibrary.org/obo/MONDO_0002304

identifier

NANDO:1201081

label

Protein S deficiency

先天性プロテインS欠乏症

せんてんせいぷろていんえすけつぼうしょう

prefLabel

Protein S deficiency

seeAlso

https://www.nanbyou.or.jp/entry/5420

http://nanbyodata.jp/ontology/NANDO_2200690

https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156608.docx

source

https://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/327-201704-kijyun.pdf

告示番号

327

subClassOf

http://nanbyodata.jp/ontology/NANDO_1200999

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http://purl.obolibrary.org/obo/DOID_2451 DOID LOOM
rgo:05967 GAMUTS LOOM
rgo:05967 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0002304 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2451 DOID LOOM
http://localhost/plosthes.2017-1#5946 PLOSTHES LOOM
http://purl.obolibrary.org/obo/OMIT_0018652 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Protein_S_Deficiency CSEO LOOM
http://id.nlm.nih.gov/mesh/D018455 MDM LOOM
http://purl.bioontology.org/ontology/RCTV2/D309.00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.800 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#24912 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037391 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051292 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018455 RH-MESH LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2760 IFAR LOOM
http://purl.bioontology.org/ontology/MESH/D018455 MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000640 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.925.800 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU038923 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0002304 DOVES LOOM
http://www.gamuts.net/entity#protein_S_deficiency GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_2451 HTN LOOM
http://purl.obolibrary.org/obo/DOID_2451 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2451 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2451 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2451 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2451 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2451 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0242666 OCHV LOOM
http://purl.jp/bio/4/id/200906048910698663 IOBC LOOM
http://purl.bioontology.org/ontology/RCD/D309. RCD LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15058 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.147.890 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0002304 MONDO LOOM