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Sample content for demonstration — entries are illustrative and still being reviewed.
Browse every phenotype in the atlas, or search by name, ontology ID or keyword.
| Phenotype name | Phenotype ID | Category | Description | Related |
|---|---|---|---|---|
| abdominal aortic aneurysm1 | MONDO_0005350 | Cardiovascular disease | Abnormal enlargement of the abdominal aorta, the main artery supplying the abdomen, pelvis and legs. | 1 |
| abdominal pain | HP_0002027 | Digestive disease | Physical discomfort felt in the abdomen. | 2 |
| abnormal blistering of the skin | HP_0008066 | Other trait | One or more fluid-filled blisters on the skin, larger than about 5 mm. | |
| abnormal blood ion concentration | HP_0003111 | Metabolic disease | The concentration of a charged mineral, such as sodium or potassium, in the blood is outside its usual balance. | 1 |
| abnormal cardiac septum morphology | HP_0001671 | Cardiovascular disease | An anomaly of the wall separating the atria or the ventricles of the heart. | |
| abnormal chest sounds | EFO_0010670 | Respiratory disease | Unusual sounds heard from the chest, such as wheezes or crackles. | 1 |
| abnormal foot morphology | HP_0001760 | Musculoskeletal disease | An abnormality in the shape or structure of the foot. | |
| abnormal glucose homeostasis | HP_0011014 | Metabolic disease | Disturbance in how the body regulates blood glucose levels. | 2 |
| abnormality of blood and blood-forming tissues | HP_0001871 | Other trait | A broad term for abnormalities of the blood or the tissues that make blood cells. | |
| abnormality of limbs | HP_0040064 | Musculoskeletal disease | A broad term for differences in the structure of the arms or legs. | |
| abnormality of metabolism/homeostasis | HP_0001939 | Metabolic disease | A broad term for disturbances in the body's chemical processes or internal balance. | 2 |
| abnormality of movement | HP_0100022 | Neurological disorder | A neurologically based change in the coordination or speed of voluntary movement. | |
| abnormality of serum enzyme levels | EFO_0009826 | Biological measurement | Enzyme levels in the blood fall outside their usual range. | |
| abnormality of the breast | HP_0000769 | Other trait | Any structural or functional departure from the typical breast. | 1 |
| Alzheimer disease | MONDO_0004975 | Neurological disorder | A progressive neurodegenerative disease that gradually impairs memory, thinking and daily function. | 1 |
| asthma | MONDO_0004979 | Respiratory disease | A chronic airway disease with recurrent wheeze, breathlessness and cough. | 1 |
| atrial fibrillation | EFO_0000275 | Cardiovascular disease | An irregular, often rapid heart rhythm that begins in the upper chambers of the heart. | 1 |
| body height | EFO_0004339 | Biological measurement | A person's standing height. | |
| body mass index | EFO_0004340 | Biological measurement | A measure of body weight relative to height (kg/m²). | 2 |
| breast carcinoma | MONDO_0004989 | Cancer | A malignant tumour that arises from the tissue of the breast. | 1 |
| chronic kidney disease | EFO_0003884 | Kidney and urinary disease | A long-term, gradual loss of kidney function. | 2 |
| coronary artery disease | EFO_0001645 | Cardiovascular disease | Narrowing or blockage of the arteries that supply blood to the heart muscle. | 3 |
| Crohn's disease | EFO_0000384 | Digestive disease | A chronic inflammatory bowel disease that can affect any part of the digestive tract. | 2 |
| glaucoma | MONDO_0005041 | Other trait | A group of eye diseases that damage the optic nerve, often linked to raised pressure in the eye. | |
| gout | HP_0001997 | Metabolic disease | Inflammatory arthritis caused by uric acid crystals depositing in and around the joints. | 2 |