All terms in HP

Label Id Description
Focal cortical dysplasia HP_0032046 [A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.]
smooth muscle cell of small intestine CL_1000275 [A smooth muscle cell that is part of the small intestine.]
trophectodermal cell CL_1000274 [An extraembryonic cell that is part of the trophectoderm, representing the first lineage to differentiate in the embryo. This cell is crucial for implantation into the uterine wall and differentiates into trophoblast cells, which contribute to placenta formation and facilitate maternal-fetal nutrient and signal exchange.]
Hypoplastic carotid canal HP_0032045 [Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.]
smooth muscle fiber of jejunum CL_1000277 [A smooth muscle cell that is part of the jejunum.]
Decreased vigilance HP_0032044 [A decrease in the ability to maintain sustained attention is characterized by reduced alertness.]
smooth muscle fiber of duodenum CL_1000276 [A smooth muscle cell that is part of the duodenum.]
Odynophagia HP_0032043 [Pain experienced with swallowing.]
smooth muscle fiber of ileum CL_1000278 [A smooth muscle cell that is part of the ileum.]
Necrotizing lymph node granuloma HP_0020052 [A granuloma located within a lymph node that is associated with necrosis. Usually, the necrosis is surrounded by collections of histiocytes. A granuloma is a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus. It characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.]
Abnormality of blood and blood-forming tissues HP_0001871 [An abnormality of the hematopoietic system.]
Diminished MLH1 expression HP_0020055 [Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutL homolog 1 (MLH1).]
Diminished MSH2 expression HP_0020056 [Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutS homolog 2 (MSH2).]
Diminished MSH6 expression HP_0020057 [Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutS homolog 6 (MSH6).]
Increased red blood cell count HP_0020059 [An abnormal elevation above the normal number of red blood cells per volume in the circulation.]
Chiari type I malformation HP_0007099 [Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)]
Anti-granulocyte-macrophage colony stimulating factor antibody positivity HP_0020050 [The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.]
Paroxysmal choreoathetosis HP_0007098 [Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.]
Choreoathetosis HP_0001266 [Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).]
Abnormal seminiferous tubule morphology HP_0020051 [Any anomaly in the structure or density (count of tubules per volume) of the seminiferous tubules, i.e., the coiled structures within the testis that contain Sertoli cells, which support and nurture germ cells as they develop into mature spermatozoa.]