Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Hypoglycosylation of alpha-dystroglycan	HP_0030046	[A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.]
Abnormal muscle fiber alpha dystroglycan	HP_0030112	[A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.]
Limb joint contracture	HP_0003121	[A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.]
Serpentine fibula	HP_0030045	[Elongated curved (S-shaped) fibulae.]
Incomplete ossification of pubis	HP_0030042	[Failure to complete ossification (maturation and calcification) of the pubic bone.]
Hip subluxation	HP_0030043	[A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.]
Fused lumbar vertebrae	HP_0030040	[A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.]
Schmorl's node	HP_0030041	[A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.]
Fused thoracic vertebrae	HP_0030039	[A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.]
Bifid ureter	HP_0030037	[Incomplete duplication of the ureter.]
Enchondroma	HP_0030038	[A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.]
Severe hydrops fetalis	HP_0005099
Hydrops fetalis	HP_0001789	[The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.]
Distal femoral bowing	HP_0005096	[A bending or abnormal curvature of the distal portion of the femur.]
leukocyte migration involved in inflammatory response	GO_0002523	[The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response.]
leukocyte migration involved in immune response	GO_0002522	[The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response.]
Struvite nephrolithiasis	HP_0030035	[Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).]
Isothenuria	HP_0030036	[Inability of the kidneys to produce either concentrated or dilute urine.]
Small finger	HP_0030033	[Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.]
Diffuse glomerular basement membrane lamellation	HP_0030034	[Presence of abnormal additional layers of the basement membrane of the glomerulus.]