Pediatric Terminology

Last uploaded: January 25, 2013
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Preferred Name

Rubinstein-Taybi_Syndrome
Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Rubinstein-Taybi_Syndrome
ID

C75466
NCI_Definition

A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.
NCI_PT

Rubinstein-Taybi Syndrome
NICHD_Definition

_
prefixIRI

Rubinstein-Taybi_Syndrome
prefLabel

Rubinstein-Taybi_Syndrome
Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology
SYN

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Developmental_Disorder
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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://nanbyodata.jp/ontology/NANDO_2200955 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200461 NANDO 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://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