All terms in HP

Label Id Description
Calcinosis HP_0003761 [Formation of calcium deposits in any soft tissue.]
Asymmetry of iris pigmentation HP_0200064 [Asymmetry between the two irides or asymmetry between different parts of one iris.]
Iritis HP_0001101 [Inflammation of the iris.]
Angioid streaks HP_0001102 [Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid).]
Bruxism HP_0003763 [Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.]
Percussion-induced rapid rolling muscle contractions HP_0003760 [Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.]
Ocular albinism HP_0001107 [An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.]
Xanthelasma HP_0001114 [The presence of xanthomata in the skin of the eyelid.]
Pili torti HP_0003777 [Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.]
Posterior polar cataract HP_0001115 [A polar cataract that affects the posterior pole of the lens.]
Macular pseudocoloboma HP_0001116 [A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.]
Antegonial notching of mandible HP_0003779
Sudden loss of visual acuity HP_0001117 [Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.]
Leber optic atrophy HP_0001112 [Degeneration of retinal ganglion cells and their axons.]
obsolete Early cataracts HP_0001113
Stage 5 chronic kidney disease HP_0003774 [A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.]
Pulp calcification HP_0003771 [Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.]
propionate CHEBI_17272 [The conjugate base of propionic acid; a key precursor in lipid biosynthesis.]
fatty acid anion 3:0 CHEBI_78113 [Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3.]
Juvenile cataract HP_0001118 [A type of cataract that is not apparent at birth but that arises in childhood or adolescence.]