| HPO |
HP:0025005 |
Thickening of glomerular capillary wall |
"Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself." [HPO:probinson, PMID:6879730] |
— |
HP:0025006 |
| HPO |
HP:0025006 |
Abnormal glomerular capillary morphology |
"A structural anomaly of the capillary blood vessels in the renal glomerulus." [] |
— |
HP:0000095 |
| HPO |
HP:0025007 |
Ectopic fovea |
"An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina." [] |
— |
HP:0000493 |
| HPO |
HP:0025008 |
Tracheal tug on inspiration |
"Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree." [UToronto:chum] |
— |
HP:0002795 |
| HPO |
HP:0025009 |
Forward slanting upper incisors |
"The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards." [] |
— |
HP:0011062 |
| HPO |
HP:0025010 |
Foveal atrophy |
"Partial or complete loss of foveal tissue that was once present." [HPO:probinson] |
Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT). |
HP:0000493 |
| HPO |
HP:0025011 |
Pyriform aperture stenosis |
"Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose." [HPO:probinson] |
Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901]. |
HP:0005105 |
| HPO |
HP:0025012 |
Status cribrosum |
"Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations." [HPO:probinson] |
— |
HP:0002134 |
| HPO |
HP:0025013 |
Decerebrate rigidity |
"A type of rigidity that is manifested by an exaggerated extensor posture of all extremities." [UToronto:chum] |
Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration). |
HP:0002063 |
| HPO |
HP:0025014 |
Subcutaneous spheroids |
"Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [PMID:20847697] |
This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. |
HP:0001482 |
| HPO |
HP:0025015 |
Abnormal vascular morphology |
— |
— |
HP:0002597, HP:0030680 |
| HPO |
HP:0025016 |
Abnormal capillary morphology |
"A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." [] |
— |
HP:0033353 |
| HPO |
HP:0025017 |
Capillary fragility |
"Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises)." [] |
The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085]. |
HP:0025018 |
| HPO |
HP:0025018 |
Abnormal capillary physiology |
"A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." [] |
— |
HP:0030163 |
| HPO |
HP:0025019 |
Arterial rupture |
"Sudden breakage of an artery leading to leakage of blood from the circulation." [HPO:probinson] |
— |
HP:0025323 |
| HPO |
HP:0025020 |
Elevated prostate-specific antigen level |
"An increased concentration of prostate specific antigen (PSA) in the circulation." [PMID:26366236] |
Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. |
HP:0010876 |
| HPO |
HP:0025021 |
Abnormal erythrocyte sedimentation rate |
"A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488] |
— |
HP:0001939 |
| HPO |
HP:0025022 |
Decreased erythrocyte sedimentation rate |
"A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488] |
— |
HP:0025021 |
| HPO |
HP:0025023 |
Rectal atresia |
"A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum." [HPO:probinson, PMID:20006038] |
— |
HP:0002034, HP:0011100 |
| HPO |
HP:0025024 |
Megarectum |
"An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum." [HPO:probinson, PMID:10869000] |
Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. |
HP:0002034 |
| HPO |
HP:0025025 |
Rectovestibular fistula |
"A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening." [HPO:probinson] |
The condition can cause feces and gas to exit the vaginal vestibule. |
HP:0100590 |
| HPO |
HP:0025026 |
H-type rectovestibular fistula |
"Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract." [PMID:20223314] |
— |
HP:0025025 |
| HPO |
HP:0025027 |
Osteoma cutis |
"The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin." [HPO:probinson, PMID:21152797, PMID:26273166] |
— |
HP:0200036 |
| HPO |
HP:0025028 |
Abnormality of enteric nervous system morphology |
"A structural anomaly of nerves of the enteric nervous system." [] |
The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. |
HP:0002242, HP:0012331 |
| HPO |
HP:0025029 |
Abnormality of enteric neuron morphology |
— |
— |
HP:0025028 |