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.

FULL_SYN

Uniparental Disomy

label

Uniparental Disomy

Preferred_Name

Uniparental Disomy

prefixIRI

Thesaurus: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.obolibrary.org/obo/HP_0032382 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/MESH/D024182 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/PATO_0001388 Phenotypic Quality Ontology / 表型特质本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0700086 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0700086 Experimental Factor Ontology / 实验性因素本体 LOOM