All terms in HP

Label Id Description
Corneal pterygium HP_0034363 [Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.]
Bullet-shaped proximal phalanx of the 2nd toe HP_0010397 [An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.]
Fibrofatty replacement of right ventricular myocardium HP_0034364 [Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.]
Abnormal right ventricle morphology HP_0001707 [An abnormality of the right ventricle of the heart.]
Abnormal morphology of the proximal phalanx of the 5th toe HP_0010394
Elevated circulating alpha-aminoadipic semialdehyde concentration HP_0034365 [Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.]
Fracture blister HP_0034366 [Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.]
Decreased circulating beta-mannosidase activity HP_0034367 [Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.]
Abnormal circulating beta-mannosidase activity HP_0034725 [Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.]
Urolithiasis HP_0034368 [Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.]
phytanic acid CHEBI_16285 [A branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15.]
methyl-branched fatty acid CHEBI_62499 [Any branched-chain fatty acid containing methyl branches only.]
branched-chain saturated fatty acid CHEBI_39417 [Any saturated fatty acid with a carbon side-chain or isopropyl termination.]
Curved proximal phalanx of the 2nd toe HP_0010398 [A deviation from the normal straight form of the proximal phalanx of the 2nd toe.]
Decreased level of coenzyme Q10 in skeletal muscle HP_0034369 [Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.]
Osteolytic defects of the proximal phalanx of the 2nd toe HP_0010399
Abnormality of the distal phalanx of the 5th toe HP_0010392
Abnormality of the middle phalanx of the 5th toe HP_0010393
Action myoclonus HP_0034360 [A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.]
Triangular shaped phalanges of the 5th toe HP_0010390