eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| yellow nail syndrome | ||||
| Disease ID | 338 |
|---|---|
| Disease | yellow nail syndrome |
| Definition | A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history. |
| Synonym | hereditary lymphedema and yellow nails hereditary lymphedema and yellow nails (disorder) hereditary lymphoedema and yellow nails lymphedema and yellow nails nail syndrome yellow nail syndrome, yellow nail syndromes, yellow nail yellow nail yellowing nails syndrome yellow nails yellowing syndrome, yellow nail syndromes, yellow nail yellow nail yellow nail syndrome [disease/finding] yellow nail syndromes yellow nails yns |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0221348 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0003864 | arthritis | 3 C0003873 | rheumatoid arthritis | 3 C0007134 | renal cell carcinoma | 1 C0024236 | lymphedema | 1 C0016057 | fibrosarcoma | 1 C0024236 | lymphoedema | 1 C0242379 | lung cancer | 1 C0014013 | thoracic empyema | 1 C0017665 | membranous glomerulonephritis | 1 C0221348 | yellow nail syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | (Waiting for update.) |
| Disease ID | 338 |
|---|---|
| Disease | yellow nail syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0100574 | Biliary tract neoplasm HP:0002094 | Dyspnea HP:0002110 | Bronchiectasis HP:0011367 | Yellow nails HP:0000246 | Sinusitis HP:0012384 | Rhinitis HP:0001004 | Lymphedema HP:0002205 | Recurrent respiratory infections HP:0002102 | Pleuritis HP:0100526 | Neoplasm of the lung HP:0000112 | Nephropathy HP:0011354 | Generalized abnormality of skin HP:0008388 | Abnormality of the toenails HP:0002664 | Neoplasm HP:0100797 | Toenail dysplasia HP:0003759 | Hypoplasia of lymphatic vessels HP:0100242 | Sarcoma HP:0009726 | Renal neoplasm HP:0100798 | Fingernail dysplasia HP:0012735 | Cough HP:0002721 | Immunodeficiency HP:0002092 | Pulmonary arterial hypertension HP:0001231 | Abnormality of the fingernails HP:0001806 | Onycholysis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0002202 | Pleural effusion | 5 HP:0001370 | Rheumatoid arthritis | 3 HP:0001369 | Arthritis | 3 HP:0001004 | Lymphatic obstruction | 2 HP:0100244 | Fibrosarcoma | 1 HP:0012578 | Membranous glomerulonephritis | 1 HP:0005584 | Renal cell carcinoma | 1 HP:0030731 | Carcinoma | 1 HP:0010310 | Chylothorax | 1 HP:0001999 | Facial dysmorphism | 1 |
| Disease ID | 338 |
|---|---|
| Disease | yellow nail syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003759 | Hypoplasia of lymphatic vessels | MP:0010194 | absent lymphatic vessels | absence of the network of vessels which carries lymph around the body |
| HP:0100526 | Neoplasm of the lung | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0008388 | Abnormality of the toenails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | 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:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002094 | Dyspnea | 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:0100797 | Toenail dysplasia | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002110 | Bronchiectasis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002102 | Pleuritis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009726 | Renal neoplasm | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000246 | Sinusitis | 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:0100574 | Biliary tract neoplasm | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100526 | Neoplasm of the lung | 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:0001806 | Onycholysis | 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:0001004 | Lymphedema | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0008388 | Abnormality of the toenails | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0012384 | Rhinitis | 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:0003759 | Hypoplasia of lymphatic vessels | MP:0012732 | abnormal perineural vascular plexus morphology | any structural anomaly of the capillary bed that initially surrounds the relative avascular brain and spinal cord; the perineural vascular plexus (PNVP) is the precursor to the blood brain barrier formed by angioblasts which migrate away from somites and |
| Disease ID | 338 |
|---|---|
| Disease | yellow nail syndrome |
| Case | (Waiting for update.) |