All terms in HP
| Label | Id | Description |
|---|---|---|
| Abdominal aortic aneurysm | HP_0005112 | [An abnormal localized widening (dilatation) of the abdominal aorta.] |
| Aortic arch aneurysm | HP_0005113 | [An abnormal localized widening (dilatation) of the aortic arch.] |
| Hypoplasia of the ciliary body | HP_0007774 | [Underdevelopment of the ciliary body.] |
| Aplasia/Hypoplasia affecting the uvea | HP_0008055 | [Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.] |
| Vitreoretinopathy | HP_0007773 | [Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.] |
| Atrial fibrillation | HP_0005110 | [An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.] |
| Atrial arrhythmia | HP_0001692 | [A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.] |
| obsolete Dilatation of the ascending aorta | HP_0005111 | |
| Hypoplasia of the retina | HP_0007770 | |
| Increased level of gamma-aminobutyric acid in urine | HP_0500253 | [Elevated concentration of gamma-aminobutyric acid in the urine.] |
| Abnormal urine hexanoylglycine concentration | HP_0500254 | [Abnormal concentration of hexanoylglycine in the urine.] |
| Increased level of hexanoylglycine in urine | HP_0500255 | [Elevated concentration of hexanoylglycine in the urine.] |
| leukocyte activation involved in inflammatory response | GO_0002269 | [A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response.] |
| Abnormal urine isobutyrylglycine concentration | HP_0500256 | [Abnormal concentration of isobutyrylglycine in the urine.] |
| Increased circulating ethanolamine concentration | HP_0500250 | [Abnormally increased levels of ethanolamine in circulation.] |
| Abnormal urine sebacic acid concentration | HP_0500251 | [Abnormal concentration of sebacic acid in the urine.] |
| Increased urine sebacic acid concentration | HP_0500252 | [Elevated concentration of sebacic acid in the urine.] |
| Increased urine isobutyrylglycine concentration | HP_0500257 | [Elevated concentration of isobutyrylglycine in the urine.] |
| Abnormal carbon dioxide level in cord blood | HP_0500258 | [Abnormal amount of carbon dioxide in umbilical cord blood] |
| Abnormal blood gas level in cord blood | HP_0410211 |