loading...| Preferred Name |
Mendelian inheritance |
| Definitions |
A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. Mendelian, or monogenic, inheritance of human diseases refers to patterns of transmission of recognizable disease entities. In many cases variability of clinical manifestations is observed and may be related to variation in other genes, environmental factors, or other unknown causes. |
| ID |
http://purl.obolibrary.org/obo/HP_0034345 |
| comment |
Mendelian, or monogenic, inheritance of human diseases refers to patterns of transmission of recognizable disease entities. In many cases variability of clinical manifestations is observed and may be related to variation in other genes, environmental factors, or other unknown causes. |
| creator | |
| date |
2022-09-04T14:25:17Z |
| definition |
A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| has_obo_namespace |
human_phenotype |
| id |
HP:0034345 |
| label |
Mendelian inheritance |
| notation |
HP:0034345 |
| prefLabel |
Mendelian inheritance |
| treeView | |
| subClassOf |
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