Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

achondroplasia

Synonyms

Chondrodystrophia

osteosclerosis congenita

Achondroplastic physique

Definitions

OMIM mapping confirmed by DO. [SN]. An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.

ID

http://purl.obolibrary.org/obo/DOID_4480

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

NCI:C34345

SNOMEDCT_US_2016_03_01:190584003

OMIM:100800

SNOMEDCT_US_2016_03_01:86268005

SNOMEDCT_US_2016_03_01:268350005

SNOMEDCT_US_2016_03_01:268273004

UMLS_CUI:C0001080

ICD10CM:Q77.4

SNOMEDCT_US_2016_03_01:205467007

SNOMEDCT_US_2016_03_01:248299001

MESH:D000130

definition

An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.

has_exact_synonym

Chondrodystrophia

osteosclerosis congenita

Achondroplastic physique

has_obo_namespace

disease_ontology

id

DOID:4480

label

achondroplasia

notation

DOID:4480

prefLabel

achondroplasia

treeView

http://purl.obolibrary.org/obo/DOID_2256

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

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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 ORDO 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 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_15 HORD 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 EFO 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://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.jp/bio/4/id/200906065894508826 IOBC 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 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4480 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_4480 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_4480 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_4480 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4480 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_4480 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4480 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD SAME_URI
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://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
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
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP LOOM