Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Agenesis of pineal gland	HP_0012687	[Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.]
Epiphyseal stippling of the first metacarpal	HP_0010024	[The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.]
Triangular epiphysis of the 1st metacarpal	HP_0010025
Triangular epiphyses of the thumb	HP_0009696
Increased pineal volume	HP_0012686	[An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.]
Aplasia/Hypoplasia of the 3rd metacarpal	HP_0010039	[Aplasia or Hypoplasia affecting the 3rd metacarpal.]
Quadriceps muscle atrophy	HP_0009050	[Muscular atrophy involving the quadriceps muscle.]
Proximal lower limb amyotrophy	HP_0008956	[Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.]
Increased muscle glycogen content	HP_0009051	[An increased amount of glycogen in muscle tissue.]
Distal lower limb muscle weakness	HP_0009053	[Reduced strength of the distal musculature of the legs.]
chelator	CHEBI_38161	[A ligand with two or more separate binding sites that can bind to a single metallic central atom, forming a chelate.]
ligand	CHEBI_52214	[Any molecule or ion capable of binding to a central metal atom to form coordination complexes.]
Scapuloperoneal myopathy	HP_0009054
Abnormality of the calf musculature	HP_0001430
Amyotrophy involving the shoulder musculature	HP_0001465
obsolete Hypoplasia of deltoid muscle	HP_0009044
Triangular shaped 1st metacarpal	HP_0010033	[This term applies to a triangular shaped 1st metacarpal.]
Abnormal thalamic MRI signal intensity	HP_0012696	[A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.]
Abnormality of thalamus morphology	HP_0010663	[An abnormality of the thalamus.]
Decreased thalamic volume	HP_0012695	[A reduction in the quantity of space occupied by the thalamus.]