eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neovascular glaucoma | ||||
| Disease ID | 1092 |
|---|---|
| Disease | neovascular glaucoma |
| Definition | A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber. |
| Synonym | glaucoma neovasc glaucoma neovascular glaucoma, neovascular glaucoma, neovascular [disease/finding] glaucomas, neovascular neovascular glaucoma (disorder) neovascular glaucomas rubeotic glaucoma secondary angle closure glaucoma with rubeosis secondary angle-closure glaucoma with rubeosis secondary angle-closure glaucoma with rubeosis (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0017609 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:22) C0154830 | proliferative diabetic retinopathy | 6 C0035309 | retinopathy | 5 C0011884 | diabetic retinopathy | 5 C0017601 | glaucoma | 4 C0154916 | rubeosis iridis | 2 C0011860 | niddm | 1 C0154916 | iris neovascularization | 1 C0042373 | angiopathy | 1 C0022116 | ischemia | 1 C0011849 | diabetes mellitus | 1 C0155765 | microangiopathy | 1 C0017612 | open angle glaucoma | 1 C0035309 | retinopathies | 1 C0456909 | vision loss | 1 C0011847 | diabetes | 1 C0242379 | lung cancer | 1 C0035305 | retinal detachment | 1 C0684249 | lung carcinoma | 1 C0020581 | hyphema | 1 C0010678 | cysticercosis | 1 C0154841 | central retinal vein occlusion | 1 C0085113 | neurofibromatosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 284 | ANGPT1 | 1.036 | DISEASES 1641 | DCX | 1.184 | DISEASES 23405 | DICER1 | 1.112 | DISEASES 28514 | DLL1 | 1.019 | DISEASES 2189 | FANCG | 1.539 | DISEASES 10755 | GIPC1 | 2.406 | DISEASES 2885 | GRB2 | 1.148 | DISEASES 4288 | MKI67 | 1.593 | DISEASES 4763 | NF1 | 1.633 | DISEASES 5824 | PEX19 | 2.208 | DISEASES 5228 | PGF | 2.1 | DISEASES 5251 | PHEX | 1.762 | DISEASES 5309 | PITX3 | 1.932 | DISEASES 139728 | PNCK | 2.015 | DISEASES 4860 | PNP | 1.453 | DISEASES 6175 | RPLP0 | 2.389 | DISEASES 6539 | SLC6A12 | 2.096 | DISEASES 6540 | SLC6A13 | 3.254 | DISEASES 6752 | SSTR2 | 1.351 | DISEASES 7042 | TGFB2 | 2.373 | DISEASES 7422 | VEGFA | 4.667 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1092 |
|---|---|
| Disease | neovascular glaucoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0007850 | Retinal vascular proliferation HP:3000032 | Abnormality of central retinal artery HP:0000553 | Abnormality of the uvea HP:0030532 | Visual acuity test abnormality HP:0007906 | Increased intraocular pressure HP:0000593 | Abnormality of the anterior chamber HP:0012636 | Retinal vein occlusion HP:0000572 | Visual loss HP:0000613 | Photophobia HP:0004329 | Abnormality of the posterior segment of the globe HP:0000541 | Retinal detachment HP:0000587 | Abnormality of the optic nerve HP:0200026 | Ocular pain HP:0012040 | Corneal stromal edema HP:0000501 | Glaucoma HP:0011497 | Iris neovascularization |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0000488 | Noninflammatory retina disease | 5 HP:0000501 | Glaucoma | 5 HP:0000572 | Visual loss | 2 HP:0011497 | New blood vessel formation in iris | 1 HP:0012231 | Exudative retinal detachment | 1 HP:0001105 | Retinal atrophy | 1 HP:0007902 | Vitreous hemorrhage | 1 HP:0000819 | Diabetes mellitus | 1 HP:0005978 | Noninsulin dependent diabetes mellitus | 1 HP:0000541 | Detached retina | 1 HP:0001067 | Neurofibromas | 1 HP:0000505 | Poor vision | 1 HP:0007898 | Exudative retinopathy | 1 HP:0030731 | Carcinoma | 1 HP:0011886 | Hyphema | 1 |
| Disease ID | 1092 |
|---|---|
| Disease | neovascular glaucoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) C0021888 | intraocular pressure | 6 C0154916 | rubeosis iridis | 2 C0154916 | iris neovascularization | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007906 | Increased intraocular pressure | MP:0005257 | abnormal intraocular pressure | anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye |
| HP:0200026 | Ocular pain | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0012040 | Corneal stromal edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0000541 | Retinal detachment | MP:0003099 | retinal detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| HP:0000587 | Abnormality of the optic nerve | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000593 | Abnormality of the anterior chamber | MP:0010709 | absent anterior chamber | absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200026 | Ocular pain | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0000587 | Abnormality of the optic nerve | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0012040 | Corneal stromal edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000541 | Retinal detachment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007906 | Increased intraocular pressure | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0000593 | Abnormality of the anterior chamber | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000501 | Glaucoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007850 | Retinal vascular proliferation | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| Disease ID | 1092 |
|---|---|
| Disease | neovascular glaucoma |
| Case | (Waiting for update.) |