National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Prader-Willi Syndrome
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463
code

C75463
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

A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.
Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
label

Prader-Willi Syndrome
Legacy_Concept_Name

Prader_Willi_Syndrome
NICHD_Hierarchy_Term

Prader-Willi Syndrome
Preferred_Name

Prader-Willi Syndrome
prefixIRI

C75463
prefLabel

Prader-Willi Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0032897
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85215

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_11983 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/176270 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MedlinePlus Health Topics LOOM
http://purl.bioontology.org/ontology/MESH/D011218 Medical Subject Headings LOOM