Terminology Service for NFDI4Health
All terms in HP
| Label | Id | Description |
|---|---|---|
| Irregular epiphysis of the middle phalanx of the 5th toe | HP_0100218 | |
| Ivory epiphysis of the middle phalanx of the 5th toe | HP_0100219 | |
| kinesis | GO_0042465 | [The movement of a cell or organism in response to a stimulus in which the rate of movement depends on the intensity (rather than the direction) of the stimulus.] |
| tail external integument structure | UBERON_3000982 | [Dermal, epidermal, glandular and pigment structures of the tail integument.] |
| Upper lip pit | HP_0100268 | [Depression located on the vermilion of the upper lip, usually paramedian.] |
| Abnormality of dorsoventral patterning of the limbs | HP_0100270 | [An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.] |
| Hyponasal speech | HP_0100271 | [Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.] |
| Branchial sinus | HP_0100272 | [A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.] |
| anal canal epithelium | UBERON_0015716 | [A epithelium that is part of a anal canal.] |
| Gustatory lacrimation | HP_0100274 | [Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.] |
| smooth muscle tissue layer of ejaculatory duct | UBERON_0015717 | [A smooth muscle tissue that is part of a ejaculatory duct.] |
| Ulcerative colitis | HP_0100279 | [A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.] |
| Chronic colitis | HP_0100281 | [A chronic inflammatory disease of the large intestine (colon, cecum and rectum).] |
| Ectopic respiratory mucosa | HP_0100241 | [Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.] |
| Fibrosarcoma | HP_0100244 | [A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.] |
| Desmoid tumors | HP_0100245 | [Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.] |
| Recurrent singultus | HP_0100247 | [A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.] |
| iron cation | CHEBI_24875 | |
| Hemiballismus | HP_0100248 | [Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.] |
| Calcification of muscles | HP_0100249 | [Deposition of calcium salts in muscle tissue.] |