All terms in HP
| Label | Id | Description |
|---|---|---|
| Aplasia/Hypoplasia affecting the eye | HP_0008056 | |
| interleukin-7 receptor subunit alpha (mouse) | PR_P16872 | [An interleukin-7 receptor subunit alpha that is encoded in the genome of mouse.] |
| interleukin-7 receptor subunit alpha | PR_000001869 | [A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof.] |
| Il7r (mouse) | MGI:96562 | [A protein coding gene Il7r in mouse.] |
| interleukin-7 receptor subunit alpha (human) | PR_P16871 | [An interleukin-7 receptor subunit alpha that is encoded in the genome of human.] |
| IL7R (human) | gene_symbol_report | [A protein coding gene IL7R in human.] |
| Telecanthus | HP_0000506 | [Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.] |
| Conjunctivitis | HP_0000509 | [Inflammation of the conjunctiva.] |
| Red eye | HP_0025337 | [A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.] |
| Tortuosity of conjunctival vessels | HP_0000503 | [The presence of an increased number of twists and turns of the conjunctival blood vessels.] |
| Abnormal morphology of the conjunctival vasculature | HP_0008054 | [Any abnormality of the blood vessels of the conjunctiva.] |
| Rod-cone dystrophy | HP_0000510 | [An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.] |
| Vertical supranuclear gaze palsy | HP_0000511 | [A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.] |
| Cataract | HP_0000518 | [A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.] |
| Developmental cataract | HP_0000519 | [A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.] |
| Slow saccadic eye movements | HP_0000514 | [An abnormally slow velocity of the saccadic eye movements.] |
| Alacrima | HP_0000522 | [Absence of tear secretion.] |
| Subcapsular cataract | HP_0000523 | [A cataract that affects the region of the lens directly beneath the capsule of the lens.] |
| Small pituitary gland | HP_0012506 | [An abnormally decreased size of the pituitary gland.] |
| Abnormal size of pituitary gland | HP_0012504 | [A deviation from the normal size of the pituitary gland.] |