Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Esotropia	HP_0000565	[A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.]
Esodeviation	HP_0020045	[A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.]
Chorioretinal coloboma	HP_0000567	[Absence of a region of the retina, retinal pigment epithelium, and choroid.]
Absent eyelashes	HP_0000561	[Lack of eyelashes.]
positive regulation of platelet activation	GO_0010572	[Any process that increases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue.]
positive regulation of cell activation	GO_0050867	[Any process that activates or increases the frequency, rate or extent of activation.]
Keratoconus	HP_0000563	[A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.]
Conjunctival lipoma	HP_0012549	[A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.]
Fatty replacement of skeletal muscle	HP_0012548	[Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers]
Onychauxis	HP_0012542	[Thickened nails without deformity.]
Onychogryposis	HP_0001805	[Nail that appears thick when viewed on end.]
Cephalohematoma	HP_0012541	[Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.]
Abnormal delivery	HP_0001787	[An abnormality of the birth process.]
Axillary epidermoid cyst	HP_0012540	[An epidermoid cyst in the armpit.]
Epidermoid cyst	HP_0200040	[Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.]
Skewed maternal X inactivation	HP_0012546	[A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.]
Reduced aldolase level	HP_0012545	[An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.]
Elevated aldolase level	HP_0012544	[An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.]
Hemosiderinuria	HP_0012543	[The presence of hemosiderin in the urine.]
Microphthalmia	HP_0000568	[A developmental anomaly characterized by abnormal smallness of one or both eyes.]