Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Hajdu-Cheney Syndrome
Synonyms
Definitions

A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.
ID

http://purl.obolibrary.org/obo/NCIT_C84745
code

C84745
definition

A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.
label

Hajdu-Cheney Syndrome
Preferred_Name

Hajdu-Cheney Syndrome
prefixIRI

NCIT:C84745
prefLabel

Hajdu-Cheney Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0917715
subClassOf

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

http://purl.obolibrary.org/obo/NCIT_C28193
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2736 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.355 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/102500 OMIM LOOM
http://purl.obolibrary.org/obo/OMIT_0022166 OMIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#52342 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.052.400 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_955 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2736 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.445 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2736 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2736 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2736 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2736 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2736 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2736 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D031845 MESH LOOM
rgo:26751 GAMUTS LOOM
http://identifiers.org/omim/102500 REXO LOOM
http://identifiers.org/omim/102500 GEXO LOOM
http://identifiers.org/omim/102500 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hajdu-Cheney_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.264.579.052.400 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84745 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/63122002 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906059076507156 IOBC LOOM
http://purl.org/skeletome/bonedysplasia#Hajdu-Cheney_syndrome BDO LOOM
http://purl.bioontology.org/ontology/RCD/X78By RCD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037613 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D031845 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/N33zK00 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A53 SNMI LOOM
http://purl.obolibrary.org/obo/OMIM_102500 CCO LOOM
http://id.nlm.nih.gov/mesh/D031845 MDM LOOM