All terms in HP

Label Id Description
Thalamic edema HP_0025040 [Swelling within the thalamus due to the accumulation of fluid.]
Keratoconjunctivitis HP_0001096 [Inflammation of the cornea and conjunctiva.]
Thalamic calcification HP_0025041 [Calcium deposition in the thalamus.]
Keratoconjunctivitis sicca HP_0001097 [Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.]
Lung abscess HP_0025044 [A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.]
Absent lacrimal punctum HP_0001092 [No identifiable superior and/or inferior lacrimal punctum.]
Optic nerve dysplasia HP_0001093 [The presence of developmental dysplasia of the optic nerve.]
Abnormality of mesenteric lymph nodes HP_0025042 [A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.]
Iridocyclitis HP_0001094 [A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.]
Enlarged mesenteric lymph node HP_0025043 [Increase in size of one or more mesenteric lymph nodes.]
Penetrating foot ulcers HP_0001026
Multiple mitochondrial DNA deletions HP_0003689 [The presence of multiple deletions of mitochondrial DNA (mtDNA).]
Cytochrome C oxidase-negative muscle fibers HP_0003688 [An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.]
Soft, doughy skin HP_0001027 [A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.]
Albinism HP_0001022 [An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).]
Abnormality of the back musculature HP_0410168 [Any abnormality of the back muscles.]
Abnormal morphology of the chest musculature HP_0410167 [Any abnormality of the chest muscles.]
Centrally nucleated skeletal muscle fibers HP_0003687 [An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).]
Skin dimple over apex of long bone angulation HP_0001024
regulation of amino acid metabolic process GO_0006521 [Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids.]