PLOS Thesaurus

Last uploaded: September 21, 2017
Preferred Name

Achondroplasia

Synonyms
ID

http://localhost/plosthes.2017-1#11376

alpha

Achondroplasia

broader

http://localhost/plosthes.2017-1#5944

http://localhost/plosthes.2017-1#4012

homepage

http://journals.plos.org/plosone/browse/achondroplasia

prefLabel

Achondroplasia

Previous_Classification

10.170.170.20.50.10^Achondroplasia|60.80.10.50.10^Achondroplasia|60.80.30.10^Achondroplasia

scopeNote

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe. http://ghr.nlm.nih.gov/condition=achondroplasia RD

status

Accepted

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http://purl.obolibrary.org/obo/MONDO_0007037 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DOID LOOM
http://purl.org/skeletome/bonedysplasia#Achondroplasia BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 DOVES LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/OMIM/100800 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia PEDTERM LOOM
http://www.projecthalo.com/aura#Achondroplasia AURA LOOM
http://identifiers.org/omim/100800 REXO LOOM
http://identifiers.org/omim/100800 GEXO LOOM
http://identifiers.org/omim/100800 RETO LOOM
http://purl.jp/bio/4/id/200906065894508826 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia GALEN LOOM
urn:agi-pathway:uuid-708db1ba-e8b3-4b18-b3b1-e89e3e4a653f BPT LOOM
http://purl.bioontology.org/ontology/MESH/D000130 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_100800 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480 NATPRO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_4480 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4480 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4480 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4480 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4480 FNS-H LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148 HRDO LOOM
http://radlex.org/RID/RID34620 RADLEX LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00 RCTV2 LOOM
urn:agi-folder:achondroplasia BPT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036720 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia CSEO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 LOOM
http://www.gamuts.net/entity#achondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP LOOM
http://purl.obolibrary.org/obo/NCIT_C34345 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0001572 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#628 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA LOOM