Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Segmental peripheral demyelination	HP_0007107	[A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.]
Infantile encephalopathy	HP_0007105	[Encephalopathy with onset in the infantile period.]
Abnormality of the premaxilla	HP_0010758	[An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.]
Prolonged somatosensory evoked potentials	HP_0007104
Abnormality of somatosensory evoked potentials	HP_0007377	[An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.]
Aplasia of the premaxilla	HP_0010757	[Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.]
Asymmetry of the maxilla	HP_0010755	[Asymmetry between the left and right sides of the maxilla.]
Progressive ventriculomegaly	HP_0007100
Prominence of the premaxilla	HP_0010759	[Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.]
Antecubital pterygium	HP_0009760	[Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.]
Anterior clefting of vertebral bodies	HP_0009761	[Anterior schisis (cleft or cleavage) of vertebral bodies.]
Vertebral clefting	HP_0008428	[Schisis (cleft or cleavage) of vertebral bodies.]
Facial wrinkling	HP_0009762	[Excessive wrinkling of the skin of the face.]
Cleft mandible	HP_0010752	[Midline deficiency of the mandible and some or all overlying tissues.]
Midline defect of mandible	HP_0010753
Low hanging columella	HP_0009765	[Columella extending inferior to the level of the nasal base, when viewed from the side.]
Dermatochalasis	HP_0010750	[Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.]
Dimple chin	HP_0010751	[A persistent midline depression of the skin over the fat pad of the chin.]
Aplasia/hypoplasia involving bones of the hand	HP_0005927	[Absence (due to failure to form) or underdevelopment of the bones of the hand.]
steroid	CHEBI_35341	[Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids.]