Trait

Enchondroma

A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.

HPO HP:0030038

Body system: Abnormality of the musculoskeletal system Abnormal tissue mass

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13 genes linked to Enchondroma

Changes in these genes cause rare conditions in which Enchondroma 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
ACP5acid phosphatase 5, tartrate resistant	Sometimes (5–29%)	In 1 condition
ACVR1activin A receptor type 1	Sometimes (5–29%)	In 1 condition
PDE11Aphosphodiesterase 11A	Sometimes (5–29%)	In 1 condition
PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha	Sometimes (5–29%)	In 1 condition
ADARadenosine deaminase RNA specific	Rarely (1–4%)	In 1 condition
IFIH1interferon induced with helicase C domain 1	Rarely (1–4%)	In 1 condition
LSM11LSM11, U7 small nuclear RNA associated	Rarely (1–4%)	In 1 condition
RNASEH2Aribonuclease H2 subunit A	Rarely (1–4%)	In 1 condition
RNASEH2Bribonuclease H2 subunit B	Rarely (1–4%)	In 1 condition
RNASEH2Cribonuclease H2 subunit C	Rarely (1–4%)	In 1 condition
RNU7-1RNA, U7 small nuclear 1	Rarely (1–4%)	In 1 condition
SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	Rarely (1–4%)	In 1 condition
TREX1three prime repair exonuclease 1	Rarely (1–4%)	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

Multiple enchondromatosis10 genes

Broader traits

Skeletal tumor

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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