eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acanthamoeba keratitis | ||||
| Disease ID | 1221 |
|---|---|
| Disease | acanthamoeba keratitis |
| Definition | Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness. |
| Synonym | acanthameba keratitis acanthamoeba keratitides acanthamoeba keratitis (disorder) acanthamoeba keratitis [disease/finding] keratitides, acanthamoeba keratitis, acanthamoeba |
| Orphanet | |
| DOID | |
| UMLS | C0000880 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1221 |
|---|---|
| Disease | acanthamoeba keratitis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0000481 | Abnormality of the cornea HP:0012155 | Decreased corneal sensation HP:0012804 | Corneal ulceration HP:0012122 | Anterior uveitis HP:0000518 | Cataract HP:0100532 | Scleritis HP:0011495 | Abnormality of corneal epithelium HP:0000593 | Abnormality of the anterior chamber HP:0004329 | Abnormality of the posterior segment of the globe HP:0000613 | Photophobia HP:0012040 | Corneal stromal edema HP:0200026 | Ocular pain HP:0100583 | Corneal perforation HP:0007856 | Punctate opacification of the cornea HP:0001089 | Iris atrophy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1221 |
|---|---|
| Disease | acanthamoeba keratitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007856 | Punctate opacification of the cornea | MP:0005543 | decreased cornea thickness | decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure |
| HP:0012040 | Corneal stromal edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0000481 | Abnormality of the cornea | MP:0011745 | isolation of the left subclavian artery | the loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus |
| 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:0200026 | Ocular pain | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
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:0100583 | Corneal perforation | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000481 | Abnormality of the cornea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0012804 | Corneal ulceration | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000518 | Cataract | 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: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:0007856 | Punctate opacification of the cornea | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| 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:0001089 | Iris atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1221 |
|---|---|
| Disease | acanthamoeba keratitis |
| Case | (Waiting for update.) |