All terms in HP

Label Id Description
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.]
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.]
Focal cognitive seizure with dysgraphia/agraphia HP_0032699 [A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.]
obsolete Severe hydrops fetalis HP_0005099
acute inflammatory response GO_0002526 [Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response.]
Distal femoral bowing HP_0005096 [A bending or abnormal curvature of the distal portion of the femur.]
Focal aware cognitive seizure with dyscalculia/acalculia HP_0032690 [A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.]
Focal cognitive seizure with dyscalculia/acalculia HP_0032691 [A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.]
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.]
immune system development GO_0002520 [The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process.]
Focal cognitive seizure with conduction dysphasia/aphasia HP_0032698 [A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.]
Struvite nephrolithiasis HP_0030035 [Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).]