Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Cerebellar malformation	HP_0002438
Slender long bones with narrow diaphyses	HP_0004993	[Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.]
Abnormal diaphysis morphology	HP_0000940	[An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.]
Slender long bone	HP_0003100	[Reduced diameter of a long bone.]
Motor deterioration	HP_0002333	[Loss of previously present motor (i.e., movement) abilities.]
Mental deterioration	HP_0001268	[Loss of previously present mental abilities, generally in adults.]
Rhizomelic arm shortening	HP_0004991	[Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).]
Rhizomelia	HP_0008905	[Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).]
Paroxysmal drowsiness	HP_0002330	[Attacks of disabling daytime drowsiness and low alertness.]
Epiphyseal streaking	HP_0004990
Abnormality of epiphysis morphology	HP_0005930	[An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.]
N-isobutyrylglycine	CHEBI_70979	[An N-acylglycine in which the acyl group is specified as isobutryl.]
N-acylglycine	CHEBI_16180	[An N-acyl-amino acid in which amino acid specified is glycine.]
N-isobutyrylglycinate	CHEBI_133610	[A monocarboxylic acid anion that is the conjugate base of N-isobutyrylglycine, obtained by deprotonation of the carboxy group; major species at pH 7.3.]
Abnormal caudate nucleus morphology	HP_0002339	[Any structural abnormality of the caudate nucleus.]
Abnormal corpus striatum morphology	HP_0010994	[Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.]
Head tremor	HP_0002346	[An unintentional, oscillating to-and-fro muscle movement affecting head movement.]
Tremor by anatomical site	HP_0030188	[Tremor classified by the affected body part.]
Focal aware seizure	HP_0002349	[A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.]
Focal-onset seizure	HP_0007359	[Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere.]