Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
mitochondrial matrix	GO_0005759	[The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.]
Freezing of gait	HP_0031825	[Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.]
Short distal phalanx of the 5th finger	HP_0004227	[Hypoplastic/small distal phalanx of the fifth finger.]
Intellectual disability, borderline	HP_0006889	[Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.]
Reduced hypoxanthine-guanine phosphoribosyltransferase level	HP_0031823	[Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.]
Abnormal hypoxanthine-guanine phosphoribosyltransferase level	HP_0031821	[Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.]
Hepatic mastocytosis	HP_0031824	[Liver mast cell infiltration.]
neuronal stem cell	CL_0000047	[Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors.]
Intellectual disability, progressive	HP_0006887	[The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.]
Meningoencephalocele	HP_0006888
Ivory epiphysis of the distal phalanx of the 5th finger	HP_0004223	[Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Elevated hypoxanthine-guanine phosphoribosyltransferase level	HP_0031822	[Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.]
Curved distal phalanx of the 5th finger	HP_0004226	[Curved appearance of the distal phalanx of the 5th (little) finger.]
mitochondrial ribosome	GO_0005761	[A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes.]
Decreased waist to hip ratio	HP_0031820	[Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.]
Abnormal waist to hip ratio	HP_0031818	[A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.]
single fate stem cell	CL_0000035	[A stem cell that self-renews as well as give rise to a single mature cell type.]
Short middle phalanx of the 5th finger	HP_0004220	[Hypoplastic/small middle phalanx of the fifth finger.]
lysosome	GO_0005764	[A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.]
Cone-shaped epiphysis of the distal phalanx of the 5th finger	HP_0004222	[A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.]