Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Holt-Oram Syndrome
Synonyms
Definitions

A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities.
ID

http://purl.obolibrary.org/obo/NCIT_C125592
code

C125592
Contributing_Source

Cellosaurus
definition

A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities.
in_subset

http://purl.obolibrary.org/obo/NCIT_C165258
label

Holt-Oram Syndrome
Preferred_Name

Holt-Oram Syndrome
prefixIRI

NCIT:C125592
prefLabel

Holt-Oram Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0265264
subClassOf

http://purl.obolibrary.org/obo/NCIT_C53543

http://purl.obolibrary.org/obo/NCIT_C28193
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http://purl.obolibrary.org/obo/MONDO_0007732 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007732 EFO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1023 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535326 RH-MESH LOOM
http://www.gamuts.net/entity#Holt_Oram_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0060468 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060468 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060468 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060468 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/C535326 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050469 MEDDRA LOOM
http://purl.bioontology.org/ontology/CSP/5002-0020 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125592 NCIT LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00906 SNMI LOOM
http://purl.obolibrary.org/obo/MONDO_0007732 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265264 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19092004 SNOMEDCT LOOM
http://www.co-ode.org/ontologies/galen#HoltOramSyndrome GALEN LOOM
http://purl.bioontology.org/ontology/OMIM/142900 OMIM LOOM
http://purl.jp/bio/4/id/200906089145321309 IOBC LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy7100 RCTV2 LOOM
http://purl.org/skeletome/bonedysplasia#Holt-Oram_syndrome BDO LOOM
http://purl.obolibrary.org/obo/OMIM_142900 CCO LOOM
http://www.orpha.net/ORDO/Orphanet_392 ORDO LOOM
http://identifiers.org/omim/142900 REXO LOOM
http://identifiers.org/omim/142900 GEXO LOOM
http://identifiers.org/omim/142900 RETO LOOM