All terms in HP

Label Id Description
glucose-6-phosphate dehydrogenase PR_000050060 [A protein that contains a single copy of the Glucose-6-phosphate dehydrogenase, NAD binding domain (Pfam:PF00479) at or near the N terminus, a single copy of the Glucose-6-phosphate dehydrogenase, C-terminal domain (Pfam:PF02781) at or near the C terminus, and no other domains.]
Lower eyelid coloboma HP_0000652 [A short discontinuity of the margin of the lower eyelid.]
Eyelid coloboma HP_0000625 [A short discontinuity of the margin of the lower or upper eyelid.]
Sparse eyelashes HP_0000653 [Decreased density/number of eyelashes.]
Sparse or absent eyelashes HP_0200102
Decreased light- and dark-adapted electroretinogram amplitude HP_0000654 [Decreased amplitude of eletrical response upon electroretinography.]
Abnormal light- and dark-adapted electroretinogram HP_0008323 [An abnormality of the combined rod-and-cone response on electroretinogram.]
obsolete Vitreoretinal degeneration HP_0000655
Abnormal amplitude of pattern reversal visual evoked potentials HP_0000650
Abnormality of pattern reversal visual evoked potentials HP_0100289
Diplopia HP_0000651 [Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.]
Abnormality of binocular vision HP_0011514 [An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.]
microtubule-based process GO_0007017 [Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins.]
Abnormality of the nervous system HP_0000707 [An abnormality of the nervous system.]
Renal calcium wasting HP_0012637 [High urine calcium in the presence of hypocalcemia.]
Abnormality of urine calcium concentration HP_0011280 [An abnormality of calcium concentration in the urine.]
Retinal venous occlusion HP_0012636 [Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion.]
Abnormal retinal vascular morphology HP_0008046 [A structural abnormality of retinal vasculature.]
Iris hypoperfusion HP_0012635 [Reduction in the amount of blood flow to the iris.]
Abnormal iris vasculature HP_0007905