All terms in HP

Label Id Description
Increased phytanic acid:pristanic acid ratio HP_0034449 [An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.]
Patent urachus HP_0010479 [Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.]
Cone-shaped epiphyses of the 2nd finger HP_0009490 [A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.]
Abnormality of the epiphyses of the 2nd finger HP_0006263 [Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.]
Enlarged epiphyses of the 2nd finger HP_0009491 [Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.]
Fragmentation of the epiphyses of the 2nd finger HP_0009492 [Fragmented appearance of the epiphyses of the 2nd finger.]
Irregular epiphyses of the 2nd finger HP_0009493 [Irregular radiographic opacity of the epiphyses of the 2nd finger.]
Ivory epiphyses of the 2nd finger HP_0009494 [Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Ameliorated by ultraviolet light exposure HP_0034440 [Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy).]
Ameliorated by HP_0025254 [An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable]
Deviation of the hand or of fingers of the hand HP_0009484 [Displacement of the hand or of fingers of the hand from their normal position.]
Abnormal hand morphology HP_0005922 [Any structural anomaly of the hand.]
Porphyrinuria HP_0010473 [Abnormally increased excretion of porphyrins in the urine.]
Decreased circulating aspartic acid concentration HP_0034441 [An reduced concentration of aspartic acid in the blood circulation.]
Abnormal circulating aspartic acid concentration HP_0500158 [Any deviation from the normal concentration of aspartate in the blood circulation.]
Bladder stones HP_0010474 [Buildups of minerals that form in the urinary bladder.]
Abnormal circulating erythropoietin concentration HP_0034442 [Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.]
Radial deviation of the hand HP_0009486 [An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).]
Reduced circulating erythropoietin concentration HP_0034443 [Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.]
Abnormal circulating porphyrin concentration HP_0010472 [An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.]