| HPO |
HP:0000757 |
Lack of insight |
— |
— |
HP:0000708 |
| HPO |
HP:0000758 |
Impaired use of nonverbal behaviors |
"Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures." [HPO:probinson] |
— |
HP:0000735 |
| HPO |
HP:0000759 |
Abnormal peripheral nervous system morphology |
"A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." [HPO:probinson] |
The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. |
HP:0012639 |
| HPO |
HP:0000762 |
Decreased nerve conduction velocity |
"A reduction in the speed at which electrical signals propagate along the axon of a neuron." [HPO:probinson] |
Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. |
HP:0040129 |
| HPO |
HP:0000763 |
Sensory neuropathy |
"Peripheral neuropathy affecting the sensory nerves." [HPO:curators] |
— |
HP:0009830 |
| HPO |
HP:0000764 |
Peripheral axonal degeneration |
"Progressive deterioration of peripheral axons." [HPO:probinson] |
This finding is typically demonstrated by nerve biopsy. |
HP:0000759 |
| HPO |
HP:0000765 |
Abnormal thorax morphology |
"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:probinson] |
— |
HP:0009121 |
| HPO |
HP:0000766 |
Abnormal sternum morphology |
"An anomaly of the sternum, also known as the breastbone." [HPO:probinson] |
— |
HP:0000765 |
| HPO |
HP:0000767 |
Pectus excavatum |
"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:probinson] |
— |
HP:0000766 |
| HPO |
HP:0000768 |
Pectus carinatum |
"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:probinson] |
— |
HP:0000766 |
| HPO |
HP:0000769 |
Abnormality of the breast |
"An abnormality of the breast." [HPO:probinson] |
— |
HP:0000118 |
| HPO |
HP:0000771 |
Gynecomastia |
"Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson] |
— |
HP:0031093 |
| HPO |
HP:0000772 |
Abnormality of the ribs |
"An anomaly of the rib." [HPO:probinson] |
— |
HP:0001547 |
| HPO |
HP:0000773 |
Short ribs |
"Reduced rib length." [HPO:probinson] |
— |
HP:0006712 |
| HPO |
HP:0000774 |
Narrow chest |
"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [HPO:probinson] |
— |
HP:0005257 |
| HPO |
HP:0000775 |
Abnormality of the diaphragm |
"Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity." [HPO:probinson] |
— |
HP:0011805 |
| HPO |
HP:0000776 |
Congenital diaphragmatic hernia |
"The presence of a hernia of the diaphragm present at birth." [HPO:probinson] |
Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. |
HP:0000775, HP:0100790 |
| HPO |
HP:0000777 |
Abnormality of the thymus |
"Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [HPO:probinson] |
— |
HP:0000818, HP:0100763 |
| HPO |
HP:0000778 |
Hypoplasia of the thymus |
"Underdevelopment of the thymus." [HPO:curators] |
— |
HP:0010515 |
| HPO |
HP:0000782 |
Abnormal scapula morphology |
"Any abnormality of the scapula, also known as the shoulder blade." [HPO:probinson] |
— |
HP:0000765 |
| HPO |
HP:0000786 |
Primary amenorrhea |
— |
— |
HP:0000141 |
| HPO |
HP:0000787 |
Nephrolithiasis |
"The presence of calculi (stones) in the kidneys." [HPO:probinson] |
Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. |
HP:0012210 |
| HPO |
HP:0000789 |
Infertility |
— |
— |
HP:0000144 |
| HPO |
HP:0000790 |
Hematuria |
"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
— |
HP:0012211, HP:0012614 |
| HPO |
HP:0000791 |
Uric acid nephrolithiasis |
"The presence of uric acid-containing calculi (stones) in the kidneys." [HPO:probinson] |
— |
HP:0000787 |