Trait

Large end part of bone

Clinical name: Enlarged epiphyses

Increased size of epiphyses.

HPO HP:0010580

Also called: Large epiphyses, Widened, distorted epiphyses
Body system: Abnormality of the musculoskeletal system

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7 genes linked to Large end part of bone

Changes in these genes cause rare conditions in which Large end part of bone 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.

Gene	How often it is seen	Conditions
COG4component of oligomeric golgi complex 4	Always	In 1 condition
CKAP2Lcytoskeleton associated protein 2L	Often (30–79%)	In 1 condition
COL2A1collagen type II alpha 1 chain	Often (30–79%)	In 1 condition
CCN6cellular communication network factor 6	Sometimes (5–29%)	In 2 conditions
COL11A2collagen type XI alpha 2 chain	Not recorded	In 1 condition
NKX3-2NK3 homeobox 2	Not recorded	In 1 condition
PIK3R1phosphoinositide-3-kinase regulatory subunit 1	Not recorded	In 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.

Narrower traits

Broader traits

Abnormal shape of 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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