loading...| Preferred Name |
Mode of inheritance |
|
| Synonyms |
Inheritance |
|
| Definitions |
While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (in the absence of compound heterozygosity) is relevant for dominant but not for recessive disease; while inheritance is used for describing the mode of inheritance of a phenotype and is particularly applicable in the clinical setting for communicating recurrence risk, to guide family screening, and to guide reproductive advice. The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
|
| ID |
http://purl.obolibrary.org/obo/HP_0000005 |
|
| comment |
While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (in the absence of compound heterozygosity) is relevant for dominant but not for recessive disease; while inheritance is used for describing the mode of inheritance of a phenotype and is particularly applicable in the clinical setting for communicating recurrence risk, to guide family screening, and to guide reproductive advice. |
|
| database_cross_reference |
UMLS:C1708511 |
|
| definition |
The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
|
| has_alternative_id |
HP:0010985 HP:0001453 HP:0001461 HP:0001425 |
|
| has_exact_synonym |
Inheritance |
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| has_obo_namespace |
human_phenotype |
|
| id |
HP:0000005 |
|
| label |
Mode of inheritance |
|
| notation |
HP:0000005 |
|
| prefLabel |
Mode of inheritance |
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| treeView | ||
| subClassOf |