All terms in HP

Label Id Description
Severely reduced left ventricular ejection fraction HP_0012666 [A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.]
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 left ventricular ejection fraction HP_0012665 [A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.]
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.]
Loss of gluteal subcutaneous adipose tissue HP_0009017 [Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.]
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.]
Abnormal left ventricular ejection fraction HP_0034314 [Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in 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.]
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.]
cell cycle process GO_0022402 [The cellular process that ensures successive accurate and complete genome replication and chromosome segregation.]
vocal organ UBERON_0034681 [Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds).]
mononuclear cell proliferation GO_0032943 [The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form.]