All terms in HP

Label Id Description
Reduced cystathionine beta-synthase activity in cultured fibroblasts HP_6000357 [Activity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts.]
mitral valve leaflet UBERON_0007151 [A valve leafleft that is part of a mitral valve.]
cardiac valve leaflet UBERON_0011741
Reduced muscle 6-phosphofructokinase activity HP_6000359 [Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.]
Fibular duplication HP_0010503 [Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.]
Increased length of the tibia HP_0010504 [An abnormal increase in the length of the tibia.]
Limitation of knee mobility HP_0010501 [An abnormal limitation of knee joint mobility.]
noradrenaline(1+) CHEBI_166902
Fibular bowing HP_0010502 [A bending or abnormal curvature of the fibula.]
Foot asymmetry HP_0010507 [A difference in size or shape between the left and right foot.]
Metatarsus valgus HP_0010508 [A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.]
Limitation of movement at ankles HP_0010505 [An abnormal limitation of the mobility of the ankle joint.]
lumen of colon UBERON_0007159 [An anatomical cavity that surrounded_by a colon.]
Abnormal plantar dermatoglyphics HP_0010506 [An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.]
Small epiphysis of the distal phalanx of the 2nd finger HP_0009510 [Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.]
Stippling of the epiphysis of the distal phalanx of the 2nd finger HP_0009511 [The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.]
Triangular epiphysis of the distal phalanx of the 2nd finger HP_0009512 [A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.]
Absent epiphysis of the middle phalanx of the 2nd finger HP_0009513
Bracket epiphysis of the middle phalanx of the 2nd finger HP_0009514 [An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.]
Cone-shaped epiphysis of the middle phalanx of the 2nd finger HP_0009515