| HPO |
HP:0012624 |
Stage 2 chronic kidney disease |
"A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2)." [Eurenomics:fschaefer] |
— |
HP:0012622 |
| HPO |
HP:0012625 |
Stage 3 chronic kidney disease |
"A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2)." [Eurenomics:fschaefer] |
— |
HP:0012622 |
| HPO |
HP:0012626 |
Stage 4 chronic kidney disease |
"A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2)." [Eurenomics:fschaefer] |
— |
HP:0012622 |
| HPO |
HP:0012627 |
Pseudoexfoliation |
"Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor." [HPO:probinson, PMID:23157966] |
In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. |
HP:0004328 |
| HPO |
HP:0012628 |
Abnormal suspensory ligament of lens morphology |
"An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." [HPO:probinson] |
— |
HP:0004328 |
| HPO |
HP:0012629 |
Phakodonesis |
"Tremulousness (trembling) of the lens of the eye." [HPO:probinson, PMID:5472193] |
Phacodonesis results from lesions of some or most of the zonular fibres are broken. |
HP:0000517 |
| HPO |
HP:0012630 |
Abnormal trabecular meshwork morphology |
"An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm." [HPO:probinson] |
— |
HP:0000593 |
| HPO |
HP:0012631 |
Pigment deposition in the trabecular meshwork |
"Accumulation of abnormal amounts of pigment within the trabecular meshwork." [HPO:probinson] |
Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork. |
HP:0012630 |
| HPO |
HP:0012632 |
Abnormal intraocular pressure |
"An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye." [HPO:probinson] |
— |
HP:0012373 |
| HPO |
HP:0012633 |
Asymmetry of intraocular pressure |
"A difference in the amount of intraocular pressure in the right and left eye." [HPO:probinson] |
— |
HP:0012632 |
| HPO |
HP:0012634 |
Iris pigment dispersion |
"Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor." [HPO:probinson] |
These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263. |
HP:0008034 |
| HPO |
HP:0012635 |
Iris hypoperfusion |
"Reduction in the amount of blood flow to the iris." [HPO:probinson] |
This feature can be diagnosed by iris angiography. |
HP:0007905 |
| HPO |
HP:0012636 |
Retinal vein occlusion |
"Blockage of the retinal vein." [HPO:probinson] |
Retinal vein occlusion can lead to edema and ischemia of the retina. |
HP:0008046 |
| HPO |
HP:0012637 |
Renal calcium wasting |
"High urine calcium in the presence of hypocalcemia." [HPO:probinson] |
— |
HP:0011280 |
| HPO |
HP:0012638 |
Abnormal nervous system physiology |
"A functional anomaly of the nervous system." [HPO:probinson] |
— |
HP:0000707 |
| HPO |
HP:0012639 |
Abnormal nervous system morphology |
"A structural anomaly of the nervous system." [HPO:probinson] |
— |
HP:0000707 |
| HPO |
HP:0012640 |
Abnormality of intracranial pressure |
"A deviation from the norm of the intracranial pressure." [HPO:probinson] |
Intracranial pressure (i.e., the pressure inside the skull) represents the pressue in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF. |
HP:0012638 |
| HPO |
HP:0012641 |
Decreased intracranial pressure |
"A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] |
— |
HP:0012640 |
| HPO |
HP:0012642 |
Cerebellar agenesis |
"Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles." [HPO:probinson, PMID:20305277, PMID:26331051] |
Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. A secondary pontine hypoplasia is typically seen. The definition of cerebellar agenesis is based on the morphologic pattern and does not suggest the pathogenesis. Cerebellar agenesis may represent a malformation (e.g., mutations in PTF1A) or a disruption (e.g., hemorrhage that occurs during gestation or in the perinatal period, vascular insufficiency in Chiari II malformation and cerebellar herniation, and as a sequela of prematurity). |
HP:0007360 |
| HPO |
HP:0012643 |
Foveal hypopigmentation |
"Decreased amount of pigmentation in the fovea centralis." [HPO:probinson] |
— |
HP:0030493 |
| HPO |
HP:0012644 |
Increased caudate lactate level |
"An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging." [HPO:probinson, PMID:23810640] |
— |
HP:0002339 |
| HPO |
HP:0012645 |
Enlarged peripheral nerve |
"Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve." [HPO:probinson] |
This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id). |
HP:0045010 |
| HPO |
HP:0012646 |
Retractile testis |
"A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex." [HPO:probinson, PMID:23061004, PMID:4380054] |
— |
HP:0000035 |
| HPO |
HP:0012647 |
Abnormal inflammatory response |
"Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [MONARCH:mhaendel] |
— |
HP:0010978 |
| HPO |
HP:0012648 |
Decreased inflammatory response |
"An abnormal reduction in the inflammatory response to injury or infection." [MONARCH:mhaendel] |
— |
HP:0012647 |