National Cancer Institute Thesaurus

Last uploaded: December 30, 2019
Preferred Name

Achondroplasia

Synonyms

Achondroplasia

Definitions

An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345

ALT_DEFINITION

An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature.

code

C34345

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

Cellosaurus

DEFINITION

An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.

FULL_SYN

Achondroplasia

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89330

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84978

label

Achondroplasia

Legacy_Concept_Name

Achondroplasia

NICHD_Hierarchy_Term

Achondroplasia

Preferred_Name

Achondroplasia

prefixIRI

ncit:C34345

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0001080

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27572

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http://www.gamuts.net/entity#achondroplasia GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia PEDTERM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500 RH-MESH LOOM
http://purl.jp/bio/4/id/200906065894508826 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D000130 MESH LOOM
http://www.projecthalo.com/aura#Achondroplasia AURA LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD LOOM
http://purl.obolibrary.org/obo/DOID_4480 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4480 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4480 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480 NATPRO LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia GALEN LOOM
http://identifiers.org/omim/100800 RETO LOOM
http://identifiers.org/omim/100800 GEXO LOOM
http://identifiers.org/omim/100800 REXO LOOM
http://localhost/plosthes.2017-1#11376 PLOSTHES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/100800 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00 RCTV2 LOOM
http://purl.org/skeletome/bonedysplasia#Achondroplasia BDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130 RH-MESH LOOM
http://radlex.org/RID/RID34620 RADLEX LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#628 OCHV LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP LOOM