Preferred Name

Achondroplasia [Disease/Finding]

Synonyms

Achondroplasia

ID

http://purl.bioontology.org/ontology/NDFRT/N0000000281

altLabel

Achondroplasia

cui

C0001080

MESH DEFINITION

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

MESH DUI

D000130

MeSH name

Achondroplasia

MESH UI

M0000205

NDFRT kind

DISEASE_KIND

notation

N0000000281

NUI

N0000000281

prefLabel

Achondroplasia [Disease/Finding]

SNOMED CID

86268005

tui

T019

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000001012

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http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10000453 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/L82001 ICPC2P CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10000452 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
http://purl.bioontology.org/ontology/CSP/2715-2940 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D000130 MESH CUI
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/86268005 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X76BI RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10000453 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM CUI
http://purl.bioontology.org/ontology/CST/CHONDRODYST COSTART CUI
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP CUI