Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Dysplastic patella	HP_0006446
Patellar aplasia	HP_0006443	[Absence of the patella.]
Lateral humeral condyle aplasia	HP_0006441
Hypoplasia of proximal fibula	HP_0006442	[Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.]
Increased body mass index	HP_0031418	[Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.]
Reduced sex -hormone binding protein level	HP_0031419	[A decreased concentration of sex-hormone binding protein in the circulation.]
Abnormal nasal mucus secretion	HP_0031416	[Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.]
Rhinorrhea	HP_0031417	[Increased discharge of mucus from the nose.]
High serum calcifediol	HP_0031414	[An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.]
Abnormality of vitamin D metabolism	HP_0100511
Dorsal subluxation of ulna	HP_0006459	[Partial dislocation of the ulna in the dorsal direction.]
High serum calcitriol	HP_0031415	[An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.]
Irregular proximal tibial epiphyses	HP_0006456	[Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.]
Abnormal telomere morphology	HP_0031412
Abnormal chromosome morphology	HP_0031411	[Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.]
Short telomere length	HP_0031413	[An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.]
Delayed patellar ossification	HP_0006454	[Formation of bone in the patella later than normal.]
Lateral displacement of the femoral head	HP_0006453	[A developmental anomaly with lateral displacement of the femoral head.]
Abnormal distribution of CD56 bright/dim natural killer cells	HP_0031410	[An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.]
Impaired cytokine signaling	HP_0031407	[A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.]