Traits

Traits linked to VDR

vitamin D receptor

The Human Phenotype Ontology links 66 traits to VDR, 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
Weak and soft bones	Always
Abnormal bone structure	Very often (80–99%)
Bone cyst	Very often (80–99%)
Bone pain	Very often (80–99%)
Breakdown of bone	Very often (80–99%)
Joint dislocation	Very often (80–99%)
Recurrent fractures	Very often (80–99%)
Softening of the bones	Very often (80–99%)
Abnormal vertebral body morphology	Often (30–79%)
Abnormality of adipose tissue	Often (30–79%)
Abnormality of the chest	Often (30–79%)
Abnormality of the hip bone	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Abdominal wall muscle weakness	Not recorded
Bulging end part of bone	Not recorded
Bulging of the costochondral junction	Not recorded
Deformed rib cage	Not recorded
Delayed maturation of end part of long bone	Not recorded
Difficulty in standing	Not recorded
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Sparse bone trabeculae	Not recorded
Thin bony cortex	Not recorded

Abnormality of limbs

Trait	How often it is seen
Coarse metaphyseal trabecularization	Very often (80–99%)
Abnormality of the wide portion of a long bone	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Knock knees	Sometimes (5–29%)
Bowed calf bone	Not recorded
Bowed legs	Not recorded
Bowed shankbone	Not recorded
Bowed thighbone	Not recorded
Enlargement of the ankles	Not recorded
Enlargement of the wrists	Not recorded
Irregular wide portion of a long bone	Not recorded
Subperiosteal bone resorption	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always
Frontal bossing	Always
Wide nasal bridge	Always
Early loss of baby teeth	Often (30–79%)
Long, narrow head	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)
Delayed eruption of teeth	Not recorded
Dental cavities	Not recorded
Flat back of skull	Not recorded
Thin dental enamel	Not recorded
Widely patent fontanelles and sutures	Not recorded

Laboratory abnormality

Trait	How often it is seen
Low blood calcium levels	Very often (80–99%)
Low blood phosphate level	Very often (80–99%)
Elevated alkaline phosphatase	Not recorded
Elevated circulating calcitriol concentration	Not recorded
Elevated circulating parathyroid hormone level	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Irritability	Not recorded
Low calcium seizures	Not recorded
Motor delay	Not recorded

Abnormality of the integument

Trait	How often it is seen
Alopecia universalis	Always
Abnormality of the skin	Often (30–79%)
Hair loss	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Faltering weight	Not recorded
Growth delay	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Elevated blood parathyroid hormone level	Very often (80–99%)
Secondary hyperparathyroidism	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Abnormality of the genitourinary system

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

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 VDR and how often each is seen. Find out more at hpo.jax.org.

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