All terms in HP

Label Id Description
Elevated circulating 1-pyrroline-5-carboxylic acid concentration HP_6000694 [The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal.]
dihydroxyphenylacetic acid CHEBI_61409 [A dihydroxy monocarboxylic acid consisting of phenylacetic acid having two phenolic hydroxy substituents.]
Low tissue ferrochelatase activity HP_6000697 [Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme.]
Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration HP_6000696 [The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.]
Aggravated by menstruation HP_6000699 [Applied to a sign or symptom that is more severe during mensutruation.]
Elevated circulating heptacarboxylporphyrin concentration HP_6000698 [The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.]
Intrascapular pain HP_0033746 [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.]
Dysplasia of the superior cerebellar vermis HP_0033745 [A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.]
Increased laxity of fingers HP_0006149
Global cerebellar dysplasia HP_0033744 [A type of cerebellar dysplasia that affects the entire cerebellum.]
Broad metacarpal epiphyses HP_0006146 [Increased side-to-side width of the metacarpal epiphyses.]
Progressive fusion 2nd-5th pip joints HP_0006147
Shortening of all proximal phalanges of the fingers HP_0006144 [Congenital hypoplasia of proximal phalanx of finger or all fingers.]
Central Y-shaped metacarpal HP_0006145 [A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.]
Y-shaped metacarpals HP_0006042 [Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.]
Premature fusion of phalangeal epiphyses HP_0006140 [Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.]
Swan neck-like deformities of the fingers HP_0006150 [A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.]
Macular agenesis HP_0033743 [A congenital defect characterized by lack of development of the macula.]
Intrarenal reflux HP_0033742 [Severe vesicoureteral reflux reaching the kidney parenchyma.]
Grade IV vesicoureteral reflux HP_0033741 [Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.]