Traits

Traits linked to PLOD2

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

The Human Phenotype Ontology links 25 traits to PLOD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cervical C6/C7 vertebrae fusion	Always
Arthrogryposis multiplex congenita	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Recurrent fractures	Very often (80–99%)
Hunched back	Often (30–79%)
Scoliosis	Often (30–79%)
Flattened vertebrae	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded
Increased susceptibility to fractures	Not recorded
Osteopenia	Not recorded
Pigeon chest	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
Bowing of the long bones	Sometimes (5–29%)
Bowed thighbone	Not recorded
Elbow flexion contracture	Not recorded
Inability to straighten knee	Not recorded
Metaphyseal undermodelling	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Extra bones within cranial sutures	Very often (80–99%)
Triangular face	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Not recorded

Abnormality of the integument

Trait	How often it is seen
Pterygium	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Elevated urinary hydroxyproline	Not recorded

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PLOD2 and how often each is seen. Find out more at hpo.jax.org.

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