National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Uniparental Disomy
ID

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

C85215
DEFINITION

A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome.
label

Uniparental Disomy
Preferred_Name

Uniparental Disomy
prefixIRI

C85215
prefLabel

Uniparental Disomy
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0949628
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU009937 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/HP_0032382 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP36158-1 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D024182 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/PATO_0001388 Phenotypic Quality Ontology LOOM