All terms in HP

Label Id Description
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.]
Multicentric ossification of proximal femoral epiphyses HP_0006450
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.]
Abnormal cytokine signaling HP_0031406 [Any abnormality 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.]
Increased proportion of CD25+ mast cells HP_0031408 [An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).]
Abnormal mast cell morphology HP_0100494 [Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.]
Poroma HP_0031405 [A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].]
Impaired pathogen-specific CD8 cytoxicity HP_0031403 [Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.]
Decreased double-negative T cell proportion HP_0031401 [Abnormal decrease of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.]
Reduced antigen-specific T cell proliferation HP_0031402 [Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.]
Periosteal thickening of long tubular bones HP_0006465 [Thickening of the periosteum of long bone.]
Ankle flexion contracture HP_0006466
Rickets of the lower limbs HP_0006463
Proximal femoral epiphysiolysis HP_0006461 [Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.]
Generalized bone demineralization HP_0006462 [A generalized decrease in bone mineral density.]
Ankle hypermobility HP_0006460 [The ankle joint can move, passively and/or actively, beyond normal limits along its physiological axes.]
Abnormal mitral valve annulus morphology HP_0031478 [Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.]
Dilatation of the mitral annulus HP_0031479 [An increase in the diameter of the ring (annulus) of the mitral valve.]