National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Achondroplasia
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345
code	C34345
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
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. (MeSH)
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89330 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84978
label	Achondroplasia
Legacy_Concept_Name	Achondroplasia
NICHD_Hierarchy_Term	Achondroplasia
Preferred_Name	Achondroplasia
prefixIRI	C34345
prefLabel	Achondroplasia
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0001080
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27572

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080	MedlinePlus Health Topics	LOOM
http://purl.bioontology.org/ontology/MESH/D000130	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_4480	Human Disease Ontology 123	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LD24.00	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/OMIM/100800	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4	International Classification of Diseases, Version 10	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4	International Classification of Diseases, Version 10 - Clinical Modification	LOOM