| HPO |
HP:0012824 |
Severity |
"The intensity or degree of a manifestation." [HPO:probinson] |
Synonymous with PATO:0000049, intensity. |
HP:0012823 |
| HPO |
HP:0012825 |
Mild |
"Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean." [HPO:probinson] |
PATO:0000394, mild. |
HP:0012824 |
| HPO |
HP:0012826 |
Moderate |
"Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean." [HPO:probinson] |
PATO:0000395, moderate. |
HP:0012824 |
| HPO |
HP:0012827 |
Borderline |
"Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean." [HPO:probinson] |
PATO:0000394, mild. |
HP:0012824 |
| HPO |
HP:0012828 |
Severe |
"Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." [HPO:probinson] |
PATO:0000396, severe. |
HP:0012824 |
| HPO |
HP:0012829 |
Profound |
"Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean." [HPO:probinson] |
— |
HP:0012824 |
| HPO |
HP:0012830 |
Position |
"The anatomical localization of the specified phenotypic abnormality." [HPO:probinson] |
— |
HP:0012823 |
| HPO |
HP:0012831 |
Laterality |
"The localization with respect to the side of the body of the specified phenotypic abnormality." [HPO:probinson] |
— |
HP:0012830 |
| HPO |
HP:0012832 |
Bilateral |
"Being present on both sides of the body." [HPO:probinson] |
— |
HP:0012831 |
| HPO |
HP:0012833 |
Unilateral |
"Being present on only the left or only the right side of the body." [HPO:probinson] |
— |
HP:0012831 |
| HPO |
HP:0012834 |
Right |
"Being located on the right side of the body." [HPO:probinson] |
— |
HP:0012831 |
| HPO |
HP:0012835 |
Left |
"Being located on the left side of the body." [HPO:probinson] |
— |
HP:0012831 |
| HPO |
HP:0012836 |
Spatial pattern |
"The pattern by which a phenotype affects one or more regions of the body." [HPO:probinson] |
— |
HP:0012830 |
| HPO |
HP:0012837 |
Generalized |
"Affecting all regions without specificity of distribution." [HPO:probinson] |
PATO:0002403. |
HP:0012836 |
| HPO |
HP:0012838 |
Localized |
"Being confined or restricted to a particular location." [HPO:probinson] |
PATO:0000627. |
HP:0012836 |
| HPO |
HP:0012839 |
Distal |
"Localized away from the central point of the body." [HPO:probinson] |
— |
HP:0012836 |
| HPO |
HP:0012840 |
Proximal |
"Localized close to the central point of the body." [HPO:probinson] |
— |
HP:0012836 |
| HPO |
HP:0012841 |
Retinal vascular tortuosity |
"The presence of an increased number of twists and turns of the retinal blood vessels." [HPO:probinson] |
— |
HP:0008046 |
| HPO |
HP:0012842 |
Skin appendage neoplasm |
"A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:C4463] |
— |
HP:0008069, HP:0011138 |
| HPO |
HP:0012843 |
Hair follicle neoplasm |
"An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth." [HPO:probinson, NCIT:C7367] |
— |
HP:0012842 |
| HPO |
HP:0012844 |
Trichilemmoma |
"A benign tumour originating from the outer root sheath of the hair follicle." [UToronto:htrang] |
— |
HP:0012843 |
| HPO |
HP:0012845 |
Single trichilemmoma |
"Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson] |
— |
HP:0012844 |
| HPO |
HP:0012846 |
Multiple trichilemmomata |
"Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson] |
— |
HP:0012844 |
| HPO |
HP:0012847 |
Epilepsia partialis continua |
"Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years)." [ORCID:0000-0002-1735-8178, PMID:26336950, UToronto:htrang] |
The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part. |
HP:0032663 |
| HPO |
HP:0012848 |
Small intestinal stenosis |
"The narrowing or partial blockage of a portion of the small intestine." [HPO:probinson] |
— |
HP:0002244 |