Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
obsolete Loss of heterozygosity, multiple chromosomes	HP_0003494
Antinuclear antibody positivity	HP_0003493	[The presence of autoantibodies in the serum that react against nuclei or nuclear components.]
GM2-ganglioside accumulation	HP_0003495	[Cellular accumulation of GM2 gangliosides.]
obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA	HP_0003490
High urinary gonadotropin level	HP_0003492	[An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.]
Elevated urine pyrophosphate	HP_0003491	[An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.]
ATP generation from ADP	GO_0006757	[The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP.]
nucleoside diphosphate phosphorylation	GO_0006165	[The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate.]
Axonal loss	HP_0003447	[A reduction in the number of axons in the peripheral nervous system.]
Muscle spasm	HP_0003394	[Sudden and involuntary contractions of one or more muscles.]
Decreased sensory nerve conduction velocity	HP_0003448	[Reduced speed of conduction of the action potential along a sensory nerve.]
Decreased size of nerve terminals	HP_0003443	[A reduction in the size of nerve terminals.]
EMG: neuropathic changes	HP_0003445	[The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).]
EMG: chronic denervation signs	HP_0003444	[Evidence of chronic denervation on electromyography.]
B-lymphocyte antigen CD19 (mouse)	PR_P25918	[A CD19 molecule that is encoded in the genome of mouse.]
CD19 molecule	PR_000001002	[A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction.]
Horizontal sacrum	HP_0003440
EMG: myopathic abnormalities	HP_0003458	[The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.]
amino acid chain	PR_000018263	[An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds.]
Polyclonal elevation of IgM	HP_0003459	[A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.]