Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
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.]
Limited shoulder movement	HP_0006467	[A limitation of the range of movement of the shoulder joint.]
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	HP_0031401	[An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.]
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	[A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.]
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.]
Increased laxity of ankles	HP_0006460
C-C chemokine receptor type 1 (human)	PR_P32246	[A C-C chemokine receptor type 1 that is encoded in the genome of human.]
integrin alpha-IIb (mouse)	PR_Q9QUM0	[An integrin alpha-IIb that is encoded in the genome of mouse.]
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.]
obsolete Abnormal mitral valve morphology	HP_0031477
Pulmonary chondroma	HP_0031474	[A benign cartilaginous tumors of the lung.]