Experimental Factor Ontology

Last uploaded: January 15, 2020
Preferred Name

Achondroplasia

Synonyms

achondroplasia

achondroplasia; ach

chondrodystrophia

ach

osteosclerosis congenita

achondroplastic dwarfism

achondroplastic physique

Definitions

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

ID

http://www.orpha.net/ORDO/Orphanet_15

closeMatch

http://identifiers.org/snomedct/268273004

http://identifiers.org/snomedct/190584003

http://identifiers.org/snomedct/205467007

http://identifiers.org/snomedct/268350005

http://identifiers.org/snomedct/248299001

database_cross_reference

NCIT:C34345

MONDO:0007037

DOID:4480

OMIM:100800

COHD:4311402

SCTID:86268005

ICD10:Q77.4

MSH:D000130

MedDRA:10000452

UMLS:C0001080

GARD:0008173

MESH:D000130

definition

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

definition_citation

orphanet

exactMatch

http://purl.obolibrary.org/obo/NCIT_C34345

http://purl.obolibrary.org/obo/Orphanet_15

http://identifiers.org/meddra/10000452

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

http://identifiers.org/snomedct/86268005

http://identifiers.org/omim/100800

http://identifiers.org/mesh/D000130

http://linkedlifedata.com/resource/umls/id/C0001080

has_exact_synonym

achondroplasia

chondrodystrophia

osteosclerosis congenita

achondroplastic physique

has_related_synonym

achondroplasia; ach

ach

achondroplastic dwarfism

id

Orphanet:15

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#clingen

label

Achondroplasia

notation

Orphanet:15

prefLabel

Achondroplasia

see also

https://rarediseases.info.nih.gov/diseases/8173/achondroplasia

subClassOf

http://www.ebi.ac.uk/efo/EFO_0005571

http://www.orpha.net/ORDO/Orphanet_364536

http://www.orpha.net/ORDO/Orphanet_93420

http://www.ebi.ac.uk/efo/EFO_0005802

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Delete Mapping To Ontology Source
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 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_15 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_15 HOOM SAME_URI
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO SAME_URI
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO SAME_URI
http://www.orpha.net/ORDO/Orphanet_15 ORDO_PL SAME_URI
http://www.orpha.net/ORDO/Orphanet_15 HOOM SAME_URI
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://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