Showing 1 to 10 of 1814 entries
decreased volumetric bone mineral density
No IMPC genes are currently associated with this phenotype
Synonym:
reduced bone volume fraction,
decreased vBMD,
decreased volumetric bone density,
reduced BV/TV
Definition: reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests
absent gallbladder
No IMPC genes are currently associated with this phenotype
Synonym:
absent cholecyst,
absent gall bladder
Definition: absence of the organ which serves as a storage reservoir for bile
increased early germinal center B cell number
1 gene associated with this phenotype
Synonym:
increased early germinal centre B cell number
Definition: increase in the number of germinal center B cells with residual expression of IgD
abnormal sodium ion homeostasis
170 genes associated with this phenotype
Synonym:
Definition: anomaly in the processes involved in the maintenance of an internal equilibrium of sodium ions within the body or between a cell and its external environment
increased b-wave amplitude
No IMPC genes are currently associated with this phenotype
Synonym:
Definition: increase in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram
corneal deposits
11 genes associated with this phenotype
Synonym:
tunica cornea deposits
Definition: accumulation of minerals, proteins, or other anomalous substances on the cornea
increased circulating iron level
72 genes associated with this phenotype
Synonym:
hyperferremia,
hyperferraemia
Definition: elevation in the concentration of iron in the blood
increased KLRG1-positive CD4-positive NK T cell number
No IMPC genes are currently associated with this phenotype
Synonym:
Definition: increase in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation
abnormal pancreas weight
No IMPC genes are currently associated with this phenotype
Synonym:
Definition: anomaly in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
increased cardiac stroke volume
10 genes associated with this phenotype
Synonym:
Definition: increase in the volume of blood pushed into the aorta with each beat of the heart
Showing 1 to 10 of 1814 entries