Preferred Name | Uniparental Disomy | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Uniparental_Disomy |
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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. |
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isDefinedBy |
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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label |
Uniparental Disomy |
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prefixIRI |
Thesaurus:Uniparental_Disomy |
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prefLabel |
Uniparental Disomy |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |