Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Upper limb muscle hypoplasia	HP_0009016	[Underdevelopment of muscles of the arm.]
Aplasia/Hypoplasia involving the musculature of the upper limbs	HP_0001467	[Absence or underdevelopment of the musculature of the upper limbs.]
Partial duplication of the middle phalanges of the hand	HP_0010005	[A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.]
Moderately reduced ejection fraction	HP_0012665	[A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle.]
Loss of gluteal subcutaneous adipose tissue	HP_0009017	[Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.]
Loss of subcutaneous adipose tissue in limbs	HP_0003635	[Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.]
Complete duplication of the middle phalanges of the hand	HP_0010002	[A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.]
Partial duplication of the proximal phalanges of the hand	HP_0010003	[A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.]
Left ventricular systolic dysfunction	HP_0025169	[Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.]
Progressive loss of facial adipose tissue	HP_0009019
Dental malocclusion	HP_0000689	[Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.]
Abnormal choroid morphology	HP_0000610	[Any structural abnormality of the choroid.]
Abnormal uvea morphology	HP_0000553	[An abnormality of the uvea, the vascular layer of the eyeball.]
Abnormal fundus morphology	HP_0001098	[Any structural abnormality of the fundus of the eye.]
Abnormality of the vasculature of the eye	HP_0008047
obsolete Choroid coloboma	HP_0000611
chromosome segregation	GO_0007059	[The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.]
vocal organ	UBERON_0034681	[Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds).]
Abnormality of ocular smooth pursuit	HP_0000617	[An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.]
Blindness	HP_0000618	[Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.]