loading...| Preferred Name | Uniparental Disomy | |
| Synonyms |
maternal uniparental disomy disomy, uniparental heterodisomy, uniparental uniparental heterodisomies paternal uniparental disomy uniparental isodisomy uniparental heterodisomy disomies, uniparental uniparental isodisomies heterodisomies, uniparental uniparental disomies isodisomies, uniparental |
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| 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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| ID |
https://pat.nichd.nih.gov/patgeneticvariance/GV.02.02.02.01 |
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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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| Definition Source |
National Cancer Institute Thesaurus (NCIT) |
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| Label |
Uniparental Disomy |
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| notation |
GV.02.02.02.01 |
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| PAT ID |
GV.02.02.02.01 |
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| prefLabel |
Uniparental Disomy |
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| Sub Class Of | ||
| Synonyms |
maternal uniparental disomy disomy, uniparental heterodisomy, uniparental uniparental heterodisomies paternal uniparental disomy uniparental isodisomy uniparental heterodisomy disomies, uniparental uniparental isodisomies heterodisomies, uniparental uniparental disomies isodisomies, uniparental |