Nanbyo Disease Ontology

Last uploaded: February 27, 2024
Preferred Name

Protein C deficiency

Synonyms

Heritable thrombophilia

ID

http://nanbyodata.jp/ontology/NANDO_1201080

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 C deficiency

closeMatch

http://purl.obolibrary.org/obo/MONDO_0019145

identifier

NANDO:1201080

label

Protein C deficiency

先天性プロテインC欠乏症

せんてんせいぷろていんしーけつぼうしょう

prefLabel

Protein C deficiency

seeAlso

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

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://www.ebi.ac.uk/efo/EFO_0009316 EFO LOOM
http://purl.obolibrary.org/obo/DOID_3756 DOID LOOM
rgo:05966 GAMUTS LOOM
rgo:05966 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_3756 DOID LOOM
http://purl.obolibrary.org/obo/OMIT_0020075 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU038924 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020151 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X20El RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051298 MEDDRA LOOM
http://id.nlm.nih.gov/mesh/D020151 MDM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037390 PMAPP-PMO LOOM
http://www.gamuts.net/entity#protein_C_deficiency GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.690 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Protein_C_Deficiency CSEO LOOM
http://localhost/plosthes.2017-1#3386 PLOSTHES LOOM
http://purl.bioontology.org/ontology/MESH/D020151 MESH LOOM
http://purl.obolibrary.org/obo/DOID_3756 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3756 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3756 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3756 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.147.880 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.690 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/D30B.00 RCTV2 LOOM
http://purl.jp/bio/4/id/200906078185062010 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#32392 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3756 NATPRO LOOM
http://purl.obolibrary.org/obo/DERMO_0000639 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.925.795 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0398625 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15057 DERMLEX LOOM