Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Coombs-positive hemolytic anemia	HP_0004844	[A type of hemolytic anemia in which the Coombs test is positive.]
Reduced factor XII activity	HP_0004841	[Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.]
Abnormality of the intrinsic pathway	HP_0010989	[An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.]
Hypochromic microcytic anemia	HP_0004840	[A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.]
Hypochromic anemia	HP_0001931	[A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.]
Ph-positive acute lymphoblastic leukemia	HP_0004848	[A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.]
Horner syndrome	HP_0002277	[An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.]
Abnormal autonomic nervous system physiology	HP_0012332	[A functional abnormality of the autonomic nervous system.]
Miosis	HP_0000616	[Abnormal (non-physiological) constriction of the pupil.]
Ptosis	HP_0000508	[The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).]
Tetraparesis	HP_0002273	[Weakness of all four limbs.]
Tetraplegia/tetraparesis	HP_0030182	[Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.]
Poor motor coordination	HP_0002275
obsolete Autonomic dysregulation	HP_0002271
Abnormality of the autonomic nervous system	HP_0002270	[An abnormality of the autonomic nervous system.]
Abnormality of the peripheral nervous system	HP_0410008	[Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.]
Progressive alopecia	HP_0002287	[Progressive loss of hair.]
Alopecia universalis	HP_0002289	[Loss of all hair on the entire body.]
Global brain atrophy	HP_0002283	[Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.]
Diffuse cerebellar atrophy	HP_0100275	[Diffuse unlocalised atrophy affecting the cerebellum.]