Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Patchy reduction of bone mineral density	HP_0010657	[Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.]
Patchy changes of bone mineral density	HP_0010658	[Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).]
white matter of pons	UBERON_0019292
white matter of metencephalon	UBERON_0019291
commissure of telencephalon	UBERON_0019294
brain commissure	UBERON_0005970	[any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain]
Motor axonal neuropathy	HP_0007002	[Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.]
Peripheral axonal neuropathy	HP_0003477	[An abnormality characterized by disruption of the normal functioning of peripheral axons.]
white matter of pontine tegmentum	UBERON_0019293
Loss of Purkinje cells in the cerebellar vermis	HP_0007001
Morning myoclonic jerks	HP_0007000
Patchy variation in bone mineral density	HP_0010659	[Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.]
Ivory epiphysis of the proximal phalanx of the thumb	HP_0009670	[Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Abnormality of the epiphysis of the proximal phalanx of the thumb	HP_0009663	[This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.]
Ivory epiphysis of the thumb	HP_0009692	[Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Short thumb	HP_0009778	[Hypoplasia (congenital reduction in size) of the thumb.]
Hypoplasia of the premaxilla	HP_0010650	[An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.]
Aplasia/Hypoplasia of the premaxilla	HP_0010756	[Absence or underdevelopment of the premaxilla.]
Abnormality of the epiphysis of the distal phalanx of the thumb	HP_0009662	[Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.]
Abnormality of thumb epiphysis	HP_0009599	[Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.]