All terms in HP
| Label | Id | Description |
|---|---|---|
| Trichodiscoma | HP_0032228 | [A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.] |
| Sebaceous hyperplasia | HP_0032227 | [A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.] |
| Abnormal sebaceous gland morphology | HP_0032226 | [Any structural anomaly of the sebaceous glands.] |
| Aprosencephaly | HP_0007268 | |
| Chronic axonal neuropathy | HP_0007267 | [An abnormality characterized by chronic impairment of the normal functioning of the axons.] |
| Cerebral dysmyelination | HP_0007266 | [Defective structure and function of myelin sheaths of the white matter of the brain.] |
| Absent mesencephalon | HP_0007265 | [Agenesis of the midbrain.] |
| Spinocerebellar atrophy | HP_0007263 | [Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.] |
| Symmetric peripheral demyelination | HP_0007262 | [A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.] |
| Peripheral demyelination | HP_0011096 | [A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.] |
| Progressive psychomotor deterioration | HP_0007272 | |
| Occipital myelomeningocele | HP_0007271 | |
| Atypical absence seizure | HP_0007270 | [An atypical absence seizure has less abrupt onset and offset of loss of awareness than typical absence seizures. They are often associated with other features such as loss of muscle tone of the head, trunk or limbs (often a gradual slump) and subtle myoclonic jerks. Atypical absence seizures often occur in individuals with intellectual impairment.The loss of awareness may be minimal with the patient continuing an activity, but more slowly or with mistakes.] |
| Absence seizure | HP_0002121 | [Absence seizures present with a sudden cessation of activity and awareness. Absence seizures tend to occur in younger age groups, have more sudden start and termination, and they usually display less complex automatisms than do focal seizures with impaired awareness, but the distinctions are not absolute.] |
| Perifollicular fibroma | HP_0032225 | [Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.] |
| ABO blood group | HP_0032224 | [The ABO system consists of A and B antigens and antibodies against these antigens.] |
| Blood group | HP_0032223 | [Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.] |
| Serrated intestinal polyps | HP_0032222 | [The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.] |
| Intestinal polyposis | HP_0200008 | [The presence of multiple polyps in the intestine.] |
| Periportal emperipolesis | HP_0032221 | [The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.] |