All terms in HP

Label Id Description
Cone-shaped epiphysis of the distal phalanx of the 2nd finger HP_0009504 [A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.]
Enlarged epiphysis of the distal phalanx of the 2nd finger HP_0009505 [Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.]
Fragmentation of the epiphysis of the distal phalanx of the 2nd finger HP_0009506 [Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.]
Irregular epiphysis of the distal phalanx of the 2nd finger HP_0009507 [Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.]
Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts HP_6000361 [Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts.]
Ivory epiphysis of the distal phalanx of the 2nd finger HP_0009508 [Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Reduced tissue alpha-N-acetylglucosaminidase activity HP_6000360 [Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.]
Pseudoepiphysis of the distal phalanx of the 2nd finger HP_0009509 [A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.]
Flank mass HP_6000363 [An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip.]
Abnormal abdomen morphology HP_0001438 [A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.]
Blunted aldosterone response to aldosterone suppression test HP_6000362 [A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.]
Reduced aspartoacylase activity in cultured fibroblasts HP_6000354 [Activity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate.]
lumen of anal canal UBERON_0007158 [An anatomical cavity that surrounded_by a anal canal.]
Reduced tissue argininosuccinate synthetase activity HP_6000353 [Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts.]
Aplasia of the tarsal bones HP_0010509 [Absence of the tarsal bones.]
Reduced tissue medium-chain acyl-CoA dehydrogenase activity HP_6000356 [Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal.]
inferior thyroid vein UBERON_0007156 [The inferior thyroid veins two, frequently three or four, in number, arise in the venous plexus on the thyroid gland, communicating with the middle and superior thyroid veins. They form a plexus in front of the trachea, behind the Sternothyreoidei. From this plexus, a left vein descends and joins the left innominate trunk, and a right vein passes obliquely downward and to the right across the innominate artery to open into the right innominate vein, just at its junction with the superior vena cava; sometimes the right and left veins open by a common trunk in the latter situation. These veins receive esophageal tracheal, and inferior laryngeal veins, and are provided with valves at their terminations in the innominate veins.]
thyroid vein UBERON_0018246 [A vein that drains a thyroid gland.]
Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts HP_6000355 [Activity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts.]
Reduced muscle glycogen phosphorylase activity HP_6000358 [Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase.]