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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C85215
http://purl.obolibrary.org/obo/NCIT_C85215
|
|---|---|
| Preferred Name | 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.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
|
| prefLabel |
Uniparental Disomy
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| Preferred_Name |
Uniparental Disomy
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| UMLS_CUI |
C0949628
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| prefixIRI |
NCIT:C85215
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| subClassOf | |
| code |
C85215
|
| type | |
| Semantic_Type |
Disease or Syndrome
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