Traits

Traits linked to BTNL2

butyrophilin like 2

The Human Phenotype Ontology links 86 traits to BTNL2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pleura morphology	Often (30–79%)
Abnormality of lung structure	Often (30–79%)
Breathing difficulty	Often (30–79%)
Cough	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Emphysema	Sometimes (5–29%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)
Pulmonary scarring	Sometimes (5–29%)
Upper airway obstruction	Sometimes (5–29%)
Coughing up blood	Rarely (1–4%)
Abnormality in area between air sacs in lung	Not recorded
Elevated bronchoalveolar lavage fluid lymphocyte proportion	Not recorded
Low blood oxygen level	Not recorded
Lung infiltrates	Not recorded
Stiff lung or chest wall causing decreased lung volume	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac ventricular function	Sometimes (5–29%)
Abnormal heart rate	Sometimes (5–29%)
Abnormal lymph node histology	Sometimes (5–29%)
Heart block	Sometimes (5–29%)
Livedo reticularis	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Ventricular tachycardia	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Not recorded
Increased spleen size	Not recorded
Swollen lymph nodes in center of chest	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal conjunctiva morphology	Sometimes (5–29%)
Abnormality of mucosa of nose	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Dacryocystitis	Sometimes (5–29%)
Dry eye syndrome	Sometimes (5–29%)
Enlarged tear gland	Sometimes (5–29%)
Enlargement of parotid gland	Sometimes (5–29%)
Parotitis	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Fluid around lungs	Often (30–79%)
Joint swelling	Often (30–79%)
Chylothorax	Sometimes (5–29%)
Elevated urine calcium levels	Sometimes (5–29%)
High blood calcium levels	Sometimes (5–29%)
Increased CSF protein concentration	Sometimes (5–29%)
Hypothermia	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Abnormal skin structure	Often (30–79%)
Skin nodule	Often (30–79%)
Firm lump under the skin	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Patchy darkened skin	Sometimes (5–29%)
Patchy lightened skin	Sometimes (5–29%)
Skin plaque	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood leukocyte number	Often (30–79%)
Increased total T cell count	Often (30–79%)
Low platelet count	Often (30–79%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Hemolytic anemia	Rarely (1–4%)
High blood eosinophil count	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Decreased liver function	Often (30–79%)
Abnormal liver parenchyma morphology	Sometimes (5–29%)
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal reproductive system morphology	Sometimes (5–29%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Tubulointerstitial nephritis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscular abnormality	Often (30–79%)
Arthritis	Sometimes (5–29%)
Bone cyst	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Scarring	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Diabetes insipidus	Sometimes (5–29%)
Adrenal abnormalities	Rarely (1–4%)
Overactive thyroid	Rarely (1–4%)
Underactive thyroid	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Uveitis	Often (30–79%)
Blindness	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Erythema nodosum	Often (30–79%)
Maculopapular exanthema	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal cerebrospinal fluid morphology	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Fatigue	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Not recorded

Growth abnormality

Trait	How often it is seen
Weight loss	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 BTNL2 and how often each is seen. Find out more at hpo.jax.org.

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