| HPO |
HP:0002155 |
Hypertriglyceridemia |
"An abnormal increase in the level of triglycerides in the blood." [HPO:probinson] |
— |
HP:0003077 |
| HPO |
HP:0002156 |
Homocystinuria |
"An increased concentration of homocystine in the urine." [HPO:gcarletti] |
Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. |
HP:0033095 |
| HPO |
HP:0002157 |
Azotemia |
"An increased concentration of nitrogen compounds in the blood." [HPO:gcarletti] |
Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. |
HP:0004364 |
| HPO |
HP:0002159 |
Heparan sulfate excretion in urine |
"An increased concentration of heparan sulfates in the urine." [HPO:probinson] |
— |
HP:0008155 |
| HPO |
HP:0002160 |
Hyperhomocystinemia |
"An increased concentration of homocystine in the blood." [HPO:gcarletti] |
Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine).\nHyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. |
HP:0010919 |
| HPO |
HP:0002161 |
Hyperlysinemia |
"An increased concentration of lysine in the blood." [HPO:gcarletti, PMID:4696900] |
Normal blood lysine levels are around 180-200 micromole per liter. |
HP:0010908 |
| HPO |
HP:0002162 |
Low posterior hairline |
"Hair on the neck extends more inferiorly than usual." [PMID:19125436] |
This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. |
HP:0000464, HP:0030141 |
| HPO |
HP:0002164 |
Nail dysplasia |
"The presence of developmental dysplasia of the nail." [HPO:probinson] |
— |
HP:0001597 |
| HPO |
HP:0002165 |
Pterygium of nails |
"Inward advance of skin over the nail plate." [HPO:probinson] |
— |
HP:0001597 |
| HPO |
HP:0002166 |
Impaired vibration sensation in the lower limbs |
"A decrease in the ability to perceive vibration in the legs." [HPO:curators] |
— |
HP:0002495 |
| HPO |
HP:0002167 |
Neurological speech impairment |
— |
— |
HP:0011446 |
| HPO |
HP:0002168 |
Scanning speech |
"An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly." [PMID:16247074] |
— |
HP:0002167 |
| HPO |
HP:0002169 |
Clonus |
"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [HPO:probinson] |
Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. |
HP:0001347, HP:0004305 |
| HPO |
HP:0002170 |
Intracranial hemorrhage |
"Hemorrhage occurring within the skull." [HPO:gcarletti] |
— |
HP:0011029, HP:0100659 |
| HPO |
HP:0002171 |
Gliosis |
"Gliosis is the focal proliferation of glial cells in the central nervous system." [HPO:sdoelken] |
Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. |
HP:0100705 |
| HPO |
HP:0002172 |
Postural instability |
"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID:25613349] |
— |
HP:0100022 |
| HPO |
HP:0002173 |
Hypoglycemic seizures |
— |
— |
HP:0001943, HP:0011145 |
| HPO |
HP:0002174 |
Postural tremor |
"A type of tremors that is triggered by holding a limb in a fixed position." [HPO:probinson] |
— |
HP:0002345 |
| HPO |
HP:0002176 |
Spinal cord compression |
"External mechanical compression of the spinal cord." [HPO:probinson] |
Clinical abnormalities vary according to the site of the compression\nany may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. |
HP:0002143 |
| HPO |
HP:0002179 |
Opisthotonus |
— |
Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. {xref="PMID:29972427"} |
HP:0001257 |
| HPO |
HP:0002180 |
Neurodegeneration |
"Progressive loss of neural cells and tissue." [HPO:probinson] |
— |
HP:0007367 |
| HPO |
HP:0002181 |
Cerebral edema |
"Abnormal accumulation of fluid in the brain." [HPO:probinson] |
Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. |
HP:0000969, HP:0002060 |
| HPO |
HP:0002183 |
Phonophobia |
"An abnormally heightened sensitivity to loud sounds." [HPO:probinson] |
Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. |
HP:0025112 |
| HPO |
HP:0002185 |
Neurofibrillary tangles |
"Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [HPO:sdoelken] |
— |
HP:0100314 |
| HPO |
HP:0002186 |
Apraxia |
"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:probinson] |
— |
HP:0011442, HP:0011446 |