National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Uniparental Disomy
Synonyms

Uniparental Disomy
Definitions

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.
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
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/MONDO_0700086 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0700086 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0700086 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0700086 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0700086 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0700086 DOVES LOOM
http://purl.obolibrary.org/obo/OMIT_0021026 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/726400003 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MP_0008867 MP LOOM
http://purl.obolibrary.org/obo/MP_0008867 MP LOOM
http://purl.obolibrary.org/obo/MP_0008867 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0008867 CHIRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038855 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#53420 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0949628 OCHV LOOM
http://purl.org/obo/owl/PATO#PATO_0001388 HUPSON LOOM
http://purl.org/obo/owl/PATO#PATO_0001388 BIOMODELS LOOM
http://purl.obolibrary.org/obo/VariO_0209 VARIO LOOM
http://purl.obolibrary.org/obo/GSSO_007072 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D024182 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590.175.935 RH-MESH LOOM
https://pat.nichd.nih.gov/patgeneticvariance/GV.02.02.02.01 PATGV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.210.645.890 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Uniparental_Disomy CSEO LOOM
http://purl.jp/bio/4/id/200906054922724422 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D024182 MESH LOOM
http://purl.obolibrary.org/obo/MESH_D024182 BERO LOOM
http://purl.obolibrary.org/obo/HP_0032382 HP LOOM
rgo:30662 GAMUTS LOOM
http://purl.obolibrary.org/obo/PATO_0001388 PDRO LOOM
http://purl.obolibrary.org/obo/PATO_0001388 PATO LOOM
http://purl.obolibrary.org/obo/PATO_0001388 NIFDYS LOOM
http://purl.obolibrary.org/obo/PATO_0001388 HHEAR LOOM
http://purl.obolibrary.org/obo/PATO_0001388 NIFSTD LOOM
http://purl.obolibrary.org/obo/PATO_0001388 FLOPO LOOM
http://purl.obolibrary.org/obo/NCIT_C85215 BERO LOOM