Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Tetralogy of Fallot with absent pulmonary valve	HP_0011659	[Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.]
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	HP_0011656	[A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.]
Jerky ocular pursuit movements	HP_0008003
Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	HP_0011657	[A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.]
Foveal hyperpigmentation	HP_0008001	[Increased amount of pigmentation in the fovea centralis.]
Decreased corneal reflex	HP_0008000	[An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.]
Bilateral ductus arteriosus	HP_0011650	[The presence of both a left and a right ductus arteriosus.]
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	HP_0011651	[A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.]
Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	HP_0011654	[A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.]
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	HP_0011655	[A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.]
distal mesopodial endochondral element	UBERON_0018099	[An endochondral element in the distal portion of the mesopodial skeleton, between the central mesopodial skeleton and the metapodial skeleton]
Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	HP_0011652	[A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.]
Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	HP_0011653	[A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.]
regulation of membrane potential	GO_0042391	[Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.]
formyl group	CHEBI_42485
2-methylbutanedioic acid	CHEBI_91315	[A dicarboxylic acid that is butanedioic acid substituted at position 2 by a methyl group.]
methylsuccinate	CHEBI_132961	[A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 3-methylsuccinic acid.]
cell chemotaxis	GO_0060326	[The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).]
Thoracocervical ectopia cordis	HP_0011584	[A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.]
Thoracic ectopia cordis	HP_0011585	[Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.]