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Trait

Delayed maturation of end part of long bone

Clinical name: Delayed epiphyseal ossification

HPO HP:0002663

Summary

Also called
Delayed epiphyseal maturation, Delayed opacification of the epiphyses, Epiphyseal ossification delay
Body system
Abnormality of the musculoskeletal system

26 genes linked to Delayed maturation of end part of long bone

Changes in these genes cause rare conditions in which Delayed maturation of end part of long 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.

GeneHow often it is seenConditions
COMPcartilage oligomeric matrix proteinAlwaysIn 4 conditions
IARS2isoleucyl-tRNA synthetase 2, mitochondrialAlwaysIn 1 condition
INPPL1inositol polyphosphate phosphatase like 1AlwaysIn 1 condition
LONP1lon peptidase 1, mitochondrialAlwaysIn 1 condition
MIR140microRNA 140AlwaysIn 1 condition
PAM16presequence translocase associated motor 16AlwaysIn 1 condition
COL2A1collagen type II alpha 1 chainVery often (80–99%)In 2 conditions
CYP19A1cytochrome P450 family 19 subfamily A member 1Very often (80–99%)In 1 condition
CYP27B1cytochrome P450 family 27 subfamily B member 1Very often (80–99%)In 2 conditions
CYP2R1cytochrome P450 family 2 subfamily R member 1Very often (80–99%)In 2 conditions
ESR1estrogen receptor 1Very often (80–99%)In 1 condition
KIF7kinesin family member 7Very often (80–99%)In 1 condition
TRPV4transient receptor potential cation channel subfamily V member 4Very often (80–99%)In 1 condition
FGFR2fibroblast growth factor receptor 2Often (30–79%)In 1 condition
KIF22kinesin family member 22Often (30–79%)In 1 condition
PTH1Rparathyroid hormone 1 receptorOften (30–79%)In 2 conditions
DDRGK1DDRGK domain containing 1Sometimes (5–29%)In 2 conditions
RNU4ATACRNA, U4atac small nuclearSometimes (5–29%)In 1 condition
SOX9SRY-box transcription factor 9Sometimes (5–29%)In 1 condition
TONSLtonsoku like, DNA repair proteinSometimes (5–29%)In 1 condition
CLCN5Cl-/H+ antiporter 5Not recordedIn 2 conditions
COL9A3collagen type IX alpha 3 chainNot recordedIn 1 condition
GPX4glutathione peroxidase 4Not recordedIn 1 condition
PISDphosphatidylserine decarboxylaseNot recordedIn 1 condition
SLC34A3solute carrier family 34 member 3Not recordedIn 1 condition
VDRvitamin D receptorNot 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.

Narrower traits

Broader traits

Abnormal maturation of the end part of a boneAbnormal 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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