All terms in HP
| Label | Id | Description |
|---|---|---|
| EC 1.* (oxidoreductase) inhibitor | CHEBI_76725 | [An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*).] |
| enzyme inhibitor | CHEBI_23924 | [A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.] |
| EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor | CHEBI_76726 | [An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*).] |
| Congenital hypertrophy of retinal pigment epithelium | HP_0007649 | [Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.] |
| Hyperpigmentation of the fundus | HP_0011512 | [Increased pigmentation of the fundus] |
| Congenital extraocular muscle anomaly | HP_0007647 | [Congenital abnormality of the extraocular muscles.] |
| Absent lower eyelashes | HP_0007646 | [Lack of eyelashes on the lower lid.] |
| Abnormality of lower eyelashes | HP_0040052 | |
| Peripheral tractional retinal detachment | HP_0007643 | [Tractional retinal detachment at the periphery of the retina.] |
| Tractional retinal detachment | HP_0007917 | [A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.] |
| Congenital stationary night blindness | HP_0007642 | [A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.] |
| supramolecular fiber | GO_0099512 | [A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure.] |
| supramolecular polymer | GO_0099081 | [A polymeric supramolecular structure.] |
| obsolete Decreased retinal pigmentation with dispersion | HP_0007659 | |
| antioxidant | CHEBI_22586 | [A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides.] |
| antineoplastic agent | CHEBI_35610 | [A substance that inhibits or prevents the proliferation of neoplasms.] |
| anticonvulsant | CHEBI_35623 | [A drug used to prevent seizures or reduce their severity.] |
| Large hyperpigmented retinal spots | HP_0007658 | |
| Diffuse nuclear cataract | HP_0007657 | [Opacity of the entire lens nucleus.] |
| Lacrimal gland aplasia | HP_0007656 | [A congenital defect of development characterized by absence of the lacrimal gland.] |