eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| vernal keratoconjunctivitis | ||||
| Disease ID | 1895 |
|---|---|
| Disease | vernal keratoconjunctivitis |
| Definition | Vernal keratoconjunctivitis (VKC) or spring catarrh is a recurrent, bilateral, and self-limiting inflammation of conjunctiva, having a periodic seasonal incidence. - Wikipedia Reference: https://en.wikipedia.org/wiki/vernal keratoconjunctivitis |
| Synonym | keratoconjunctivitides, vernal keratoconjunctivitis, vernal vernal keratoconjunctivitides vernal keratoconjunctivitis (disorder) |
| Orphanet | |
| UMLS | C0022577 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0022578 | keratoconus | 2 C0008148 | chlamydia | 2 C0042165 | anterior uveitis | 1 C0011615 | atopic eczema | 1 C0042164 | uveitis | 1 C0002418 | amblyopia | 1 C0314719 | dry eye | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1895 |
|---|---|
| Disease | vernal keratoconjunctivitis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0000481 | Abnormality of the cornea HP:0000632 | Lacrimation abnormality HP:0000591 | Abnormality of the sclera HP:0012393 | Allergy HP:0000613 | Photophobia HP:0000989 | Pruritus HP:0011496 | Corneal neovascularization HP:0000502 | Abnormality of the conjunctiva HP:0011859 | Punctate keratitis HP:0100699 | Scarring |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0000563 | Conical cornea | 2 HP:0000509 | Conjunctivitis | 1 HP:0001880 | Eosinophilia | 1 HP:0012122 | Anterior uveitis | 1 HP:0000989 | pruritis | 1 HP:0000554 | Uveitis | 1 HP:0000572 | Visual loss | 1 HP:0000646 | Wandering eyes | 1 HP:0002960 | Autoimmune condition | 1 HP:0000505 | Poor vision | 1 |
| Disease ID | 1895 |
|---|---|
| Disease | vernal keratoconjunctivitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0000502 | Abnormality of the conjunctiva | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000632 | Lacrimation abnormality | MP:0013721 | abnormal mammary placode morphology | any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible loca |
| 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:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000591 | Abnormality of the sclera | 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:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100699 | Scarring | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0011859 | Punctate keratitis | 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:0000502 | Abnormality of the conjunctiva | MP:0013352 | abnormal Rathke's pouch apoptosis | any change in the timing or number of Rathke's pouch cells undergoing programmed cell death |
| HP:0011496 | Corneal neovascularization | MP:0008658 | decreased interleukin-1 beta secretion | reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the |
| Disease ID | 1895 |
|---|---|
| Disease | vernal keratoconjunctivitis |
| Case | (Waiting for update.) |