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Trait

Absent knee end part

Clinical name: Absent knee epiphyses

HPO HP:0006400

Summary

Body system
Abnormality of limbsAbnormality of the musculoskeletal system

1 gene linked to Absent knee end part

Changes in these genes cause rare conditions in which Absent knee end part is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
RNU4ATACRNA, U4atac small nuclearNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal knee morphologyAbsent end part of bone

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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