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Mendelian Disease

Definition
AI-generated

A Mendelian disease is caused by high-penetrance variants in one or a few genes and typically follows predictable inheritance patterns (autosomal dominant/recessive, X-linked) in families.

Topics
Core genetics
Related
Complex Disease Gene-Based Test Mendelian Error

Why it matters in GWAS

Mendelian gene discovery (sequencing, linkage) complements population GWAS: the same biological pathways may contain both rare Mendelian mutations and common weak-effect variants relevant to related complex traits.

Example usage

"The interpretation of inheritance patterns explicitly references Mendelian Disease in the pedigree analysis."

Complex Disease Gene-Based Test Mendelian Error Mendelian Randomization (MR) Rare Variant Whole-Exome Sequencing (WES)
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Chong JX, et al. (2015). The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet.
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