Preferred Name

achondroplasia

Synonyms

chondrodystrophia fetalis calcificans

Definitions

autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation.

ID

http://purl.bioontology.org/ontology/CSP/1849-0171

altLabel

chondrodystrophia fetalis calcificans

fetal rickets

cui

C0001080

C0597737

C0242080

definition

autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation.

DID

1849-0171

Inverse of RB

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/2715-1516

Inverse of RO

http://purl.bioontology.org/ontology/CSP/1254-7792

Inverse of SIB

http://purl.bioontology.org/ontology/CSP/4006-0058

http://purl.bioontology.org/ontology/CSP/1849-5992

http://purl.bioontology.org/ontology/CSP/0438-6751

http://purl.bioontology.org/ontology/CSP/2042-7013

http://purl.bioontology.org/ontology/CSP/1849-7560

http://purl.bioontology.org/ontology/CSP/2009-6300

http://purl.bioontology.org/ontology/CSP/1849-0285

http://purl.bioontology.org/ontology/CSP/1849-8016

http://purl.bioontology.org/ontology/CSP/1849-7175

http://purl.bioontology.org/ontology/CSP/1254-7954

http://purl.bioontology.org/ontology/CSP/1849-6662

http://purl.bioontology.org/ontology/CSP/1849-0228

http://purl.bioontology.org/ontology/CSP/2018-3452

http://purl.bioontology.org/ontology/CSP/5002-0020

http://purl.bioontology.org/ontology/CSP/1849-9804

http://purl.bioontology.org/ontology/CSP/1849-3115

http://purl.bioontology.org/ontology/CSP/2715-2940

http://purl.bioontology.org/ontology/CSP/1849-6776

http://purl.bioontology.org/ontology/CSP/0438-9190

http://purl.bioontology.org/ontology/CSP/4001-0003

http://purl.bioontology.org/ontology/CSP/5005-0002

http://purl.bioontology.org/ontology/CSP/1849-1975

http://purl.bioontology.org/ontology/CSP/0438-3499

http://purl.bioontology.org/ontology/CSP/0725-1693

http://purl.bioontology.org/ontology/CSP/1849-7617

http://purl.bioontology.org/ontology/CSP/2012-7338

http://purl.bioontology.org/ontology/CSP/0485-2495

http://purl.bioontology.org/ontology/CSP/0726-9627

http://purl.bioontology.org/ontology/CSP/1114-8721

http://purl.bioontology.org/ontology/CSP/2716-6258

http://purl.bioontology.org/ontology/CSP/1849-1804

http://purl.bioontology.org/ontology/CSP/1849-9833

http://purl.bioontology.org/ontology/CSP/0427-1524

http://purl.bioontology.org/ontology/CSP/0726-9169

http://purl.bioontology.org/ontology/CSP/5001-0009

http://purl.bioontology.org/ontology/CSP/2057-3283

http://purl.bioontology.org/ontology/CSP/0724-4637

http://purl.bioontology.org/ontology/CSP/0727-2535

http://purl.bioontology.org/ontology/CSP/0725-5371

http://purl.bioontology.org/ontology/CSP/0438-2686

http://purl.bioontology.org/ontology/CSP/0726-9470

http://purl.bioontology.org/ontology/CSP/4001-0143

http://purl.bioontology.org/ontology/CSP/4008-0043

http://purl.bioontology.org/ontology/CSP/0438-7564

http://purl.bioontology.org/ontology/CSP/0724-6476

http://purl.bioontology.org/ontology/CSP/2586-8897

http://purl.bioontology.org/ontology/CSP/4006-0098

http://purl.bioontology.org/ontology/CSP/0725-9662

http://purl.bioontology.org/ontology/CSP/2928-6976

http://purl.bioontology.org/ontology/CSP/1114-9526

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/4007-0003

http://purl.bioontology.org/ontology/CSP/4001-0114

http://purl.bioontology.org/ontology/CSP/0485-3493

http://purl.bioontology.org/ontology/CSP/1418-5657

http://purl.bioontology.org/ontology/CSP/5000-0055

http://purl.bioontology.org/ontology/CSP/0427-1870

http://purl.bioontology.org/ontology/CSP/2715-1517

notation

1849-0171

prefLabel

achondroplasia

tui

T019

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/2715-1516

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http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10000453 MEDDRA CUI
http://www.gamuts.net/entity#achondroplasia GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080 OCHV LOOM
http://purl.bioontology.org/ontology/ICPC2P/L82001 ICPC2P CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI CUI
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 CUI
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 CCONT 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://purl.bioontology.org/ontology/MDRFRE/10000452 MDRFRE CUI
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://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
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 CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D000130 MESH CUI
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 CUI
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://purl.bioontology.org/ontology/SCTSPA/86268005 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X76BI RCD CUI
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 CUI
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/NDFRT/N0000000281 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/MDRFRE/10000453 MDRFRE CUI
http://purl.org/skeletome/bonedysplasia#Achondroplasia BDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 CUI
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 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148 HRDO LOOM
http://purl.bioontology.org/ontology/CST/CHONDRODYST COSTART CUI
http://sbmi.uth.tmc.edu/ontology/ochv#628 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM