Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
Jump to:
loading...
Preferred Name

Goldenhar Syndrome
Synonyms
Definitions

A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.
ID

http://purl.obolibrary.org/obo/NCIT_C84740
code

C84740
Contributing_Source

Cellosaurus

NICHD
definition

A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

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

http://purl.obolibrary.org/obo/NCIT_C99147
label

Goldenhar Syndrome
Preferred_Name

Goldenhar Syndrome
prefixIRI

NCIT:C84740
prefLabel

Goldenhar Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0265240
subClassOf

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

http://purl.obolibrary.org/obo/NCIT_C28193
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.owl-ontologies.com/Ontology1358660052.owl#Goldenhar_Syndrome PEDTERM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25862 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Goldenhar_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/MESH/D006053 MESH LOOM
http://purl.org/skeletome/bonedysplasia#Goldenhar_syndrome BDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2907 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006053 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_374 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.231.576.410 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84740 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0007241 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.231.576.410 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037618 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906099663728477 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.231.576.410 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2907 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2907 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2907 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2907 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2907 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2907 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2907 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205418005 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/PG0F. RCD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_499 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265240 OCHV LOOM