Terminology Service for NFDI4Health
All terms in HP
| Label | Id | Description |
|---|---|---|
| Postaxial polydactyly | HP_0100259 | [A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.] |
| Decreased small intestinal mucosa lactase activity | HP_0025130 | [Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.] |
| Abnormal small intestinal mucosa morphology | HP_0025129 | [A structural anomaly of the mucous lining of the small intestine.] |
| Finger swelling | HP_0025131 | [Enlargement of the soft tissues of one or more fingers.] |
| Oral hairy leukoplakia | HP_0025126 | [A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.] |
| White streaks/specks on enamel. | HP_0025123 | [Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.] |
| Fragile teeth | HP_0025124 | [A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.] |
| Large hands | HP_0001176 | |
| Preaxial hand polydactyly | HP_0001177 | [Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.] |
| Preaxial polydactyly | HP_0100258 | [A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.] |
| Actinic keratosis | HP_0025127 | [A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.] |
| Ulnar claw | HP_0001178 | [An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.] |
| Reduced intraabdominal adipose tissue | HP_0025128 | [An abnormally reduced amount of adipose tissue in the abdominal cavity.] |
| Simple partial occipital seizures | HP_0025121 | [A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile.] |
| Sawtooth acanthosis | HP_0025122 | [A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.] |
| Split hand | HP_0001171 | [A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.] |
| Ectrodactyly | HP_0100257 | [A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.] |
| cystic | PATO_0001673 | [Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances.] |
| decreased susceptibility toward | PATO_0001670 | [A susceptibility toward an external stimulus which is lower than normal/average.] |
| alignment | PATO_0001652 | [A spatial quality inhering in a bearer by virtue of the bearer's spatial positioning with respect to an additional entity.] |