Nanbyo Disease Ontology

Last uploaded: February 27, 2024
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Preferred Name

ルビンシュタイン・テイビ症候群
Synonyms

Rubinstein-Taybi症候群
ID

http://nanbyodata.jp/ontology/NANDO_1200461
description

ルビンシュタインとテイビが、精神運動発達遅滞、特異顔貌、幅広い拇指趾をもつ７症例を報告したのが最初で、以後、同様の症例が報告され、ルビンシュタイン・テイビ（Rubinstein-Taybi）症候群と呼称される多発奇形症候群。
altLabel

Rubinstein-Taybi症候群
closeMatch

http://purl.obolibrary.org/obo/MONDO_0019188
identifier

NANDO:1200461
label

ルビンシュタイン・テイビ症候群

Rubinstein-Taybi syndrome

るびんしゅたいん・ていびしょうこうぐん
prefLabel

Rubinstein-Taybi syndrome
seeAlso

https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157778.docx

https://www.nanbyou.or.jp/entry/4068

https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00504

http://nanbyodata.jp/ontology/NANDO_2200955
source

https://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/102-201704-kojin.pdf
告示番号

102
subClassOf

http://nanbyodata.jp/ontology/NANDO_1100014
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http://purl.obolibrary.org/obo/MONDO_0019188 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019188 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1933 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.790 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1933 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0019188 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019188 KTAO LOOM
http://id.nlm.nih.gov/mesh/D012415 MDM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00201 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.804 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_1933 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1933 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1933 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1933 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1933 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C75466 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0013320 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.700 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/45582004 SNOMEDCT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037620 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D012415 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_783 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D012415 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0035934 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10039281 MEDDRA LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Rubinstein-Taybi_Syndrome PEDTERM LOOM
http://purl.jp/bio/4/id/200906069771082692 IOBC LOOM
http://www.gamuts.net/entity#Rubinstein_Taybi_syndrome GAMUTS LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15255 DERMLEX LOOM
http://purl.org/skeletome/bonedysplasia#Rubinstein-Taybi_syndrome BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.850 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10964 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_151 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.790 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/PKy73 RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75466 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.797 RH-MESH LOOM