All terms in HP

Label Id Description
Deviation of the 5th toe HP_0010344
EC 2.1.1.79 (cyclopropane-fatty-acyl-phospholipid synthase) inhibitor CHEBI_65064 [An EC 2.1.1.* (methyltransferases) inhibitor that interferes with the action of cyclopropane fatty acid synthase (EC 2.1.1.79).]
Posterior corneal stroma punctiform multicolored opacities HP_0034327 [Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.]
Fibro-obliterative bile-duct lesion HP_0034328 [A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.]
Abnormal intrahepatic bile duct morphology HP_0011040 [An abnormality of the intrahepatic bile duct.]
Dysplastic megalencephaly HP_0034329 [A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.]
Megalencephaly HP_0001355 [Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).]
Aplasia/Hypoplasia of the phalanges of the 3rd toe HP_0010359
Type A brachydactyly HP_0009370
Brachydactyly HP_0001156 [Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.]
Type A1 brachydactyly HP_0009371
Type A2 brachydactyly HP_0009372
Type C brachydactyly HP_0009373
Muscle fiber intracytoplasmic reducing inclusion bodies HP_0034320 [Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.]
Muscle fiber cytoplasmatic inclusion bodies HP_0100303 [The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.]
Elevated circulating guanidinoacetic acid concentration HP_0034321 [Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal.]
Abnormal circulating proteinogenic amino acid derivative concentration HP_0033108 [Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.]
Reduced tissue galactocerebrosidase activity HP_0034322 [Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.]
Reduced circulating growth hormone concentration HP_0034323 [Concentration of growth hormone in the blood circulation below normal limits.]
Brachiocephalic artery aneurysm HP_0034324 [An abnormal widening (dilatation) of the brachiocephalic artery]