eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ligneous conjunctivitis | ||||
| Disease ID | 1486 |
|---|---|
| Disease | ligneous conjunctivitis |
| Definition | Ligneous conjunctivitis is a rare form of chronic conjunctivitis characterized by recurrent, fibrin-rich pseudomembranous lesions of wood-like consistency that develop mainly on the underside of the eyelid (tarsal conjunctiva).[1] It is generally a systemic disease which may involve the periodontal tissue, the upper and lower respiratory tract, kidneys, middle ear, and female genitalia.[2] It can be sight-threatening,[2] and death can occasionally occur from pulmonary involvement.[citation needed] - Wikipedia Reference: https://en.wikipedia.org/wiki/ligneous conjunctivitis |
| Synonym | ligneous conjunctivitis (disorder) |
| Orphanet | |
| UMLS | C1274789 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) PLG | 6q26 |
| Disease ID | 1486 |
|---|---|
| Disease | ligneous conjunctivitis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0001263 | Global developmental delay HP:0000123 | Nephritis HP:0000787 | Nephrolithiasis HP:0002788 | Recurrent upper respiratory tract infections HP:0001321 | Cerebellar hypoplasia HP:0006532 | Recurrent pneumonia HP:0001600 | Abnormality of the larynx HP:0000618 | Blindness HP:0010280 | Stomatitis HP:0006480 | Premature loss of teeth HP:0000704 | Periodontitis HP:0009926 | Increased lacrimation HP:0002837 | Recurrent bronchitis HP:0200034 | Papule HP:0100776 | Recurrent pharyngitis HP:0100724 | Hypercoagulability HP:0004386 | Gastrointestinal inflammation HP:0001058 | Poor wound healing HP:0000230 | Gingivitis HP:0000256 | Macrocephaly HP:0000403 | Recurrent otitis media HP:0011328 | Abnormality of fontanelles HP:0005264 | Abnormality of the gallbladder HP:0045026 | Abnormality of the mediastinum HP:0001305 | Dandy-Walker malformation HP:0007717 | Chronic irritative conjunctivitis HP:0030160 | Cervicitis HP:0000504 | Abnormality of vision HP:0001347 | Hyperreflexia HP:0030683 | Vaginitis HP:0000509 | Conjunctivitis HP:0000212 | Gingival overgrowth HP:0001096 | Keratoconjunctivitis HP:0000238 | Hydrocephalus HP:0002588 | Duodenal ulcer |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1486 |
|---|---|
| Disease | ligneous conjunctivitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0406588 | juvenile colloid milium |
| Text Mined Symptom | (Waiting for update.) |
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:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002588 | Duodenal ulcer | MP:0004547 | esophageal ulcer | a lesion on the mucosal surface of the esophagus, usually produced by the sloughing of inflammatory necrotic tissue |
| HP:0001321 | Cerebellar hypoplasia | MP:0010422 | heart right ventricle hypoplasia | underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells |
| HP:0002788 | Recurrent upper respiratory tract infections | MP:0010955 | abnormal respiratory electron transport chain | anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient |
| HP:0000403 | Recurrent otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0001058 | Poor wound healing | MP:0002999 | abnormal bone healing | defects in the restoration of integrity to bone after trauma |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0006532 | Recurrent pneumonia | MP:0001862 | interstitial pneumonia | any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma |
| HP:0001600 | Abnormality of the larynx | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0006480 | Premature loss of teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002588 | Duodenal ulcer | MP:0012331 | increased circulating fibrinogen level | greater levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood |
| HP:0000212 | Gingival overgrowth | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001096 | Keratoconjunctivitis | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0045026 | Abnormality of the mediastinum | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0001058 | Poor wound healing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100724 | Hypercoagulability | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0001600 | Abnormality of the larynx | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000403 | Recurrent otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001305 | Dandy-Walker malformation | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0006532 | Recurrent pneumonia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002788 | Recurrent upper respiratory tract infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000123 | Nephritis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001321 | Cerebellar hypoplasia | 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:0001263 | Global developmental delay | 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:0006480 | Premature loss of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0010280 | Stomatitis | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000230 | Gingivitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0002837 | Recurrent bronchitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0009926 | Increased lacrimation | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0005264 | Abnormality of the gallbladder | MP:0010180 | increased susceptibility to weight loss | greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100776 | Recurrent pharyngitis | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| HP:0000704 | Periodontitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1486 |
|---|---|
| Disease | ligneous conjunctivitis |
| Case | (Waiting for update.) |