Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
mitochondrial envelope	GO_0005740	[The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space.]
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	HP_0003208	[An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.]
Congenital finger flexion contractures	HP_0005879	[Multiple bent (flexed) finger joints that cannot be straightened actively or passively.]
Generalized amyloid deposition	HP_0003216	[A diffuse form of amyloidosis.]
Orange discoloured tonsils	HP_0030814	[A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.]
Multiple small vertebral fractures	HP_0005877
Oroticaciduria	HP_0003218	[An increased concentration of orotic acid in the urine.]
Tongue pain	HP_0030811	[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.]
Enlarged sagittal diameter of the cervical canal	HP_0005878
Hyperglutaminemia	HP_0003217	[An increased concentration of glutamine in the blood.]
Increased dermatoglyphic whorls	HP_0005875
Progressive flexion contractures	HP_0005876	[Progressively worsening joint contractures.]
Prolonged G2 phase of cell cycle	HP_0003214
Abnormality of the cell cycle	HP_0011018	[An abnormality of the cell cycle.]
Polysyndactyly of hallux	HP_0005873	[Combined syndactyly and polydactyly of the great toe.]
Preaxial foot polydactyly	HP_0001841	[Duplication of all or part of the first ray.]
Deficient excision of UV-induced pyrimidine dimers in DNA	HP_0003213
Metaphyseal chondrodysplasia	HP_0005871	[An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.]
Metaphyseal dysplasia	HP_0100255	[The presence of dysplastic regions in metaphyseal regions.]
ossification involved in bone maturation	GO_0043931	[The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the skeleton from its formation to its mature state.]