eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| watson syndrome | ||||
| Disease ID | 1636 |
|---|---|
| Disease | watson syndrome |
| Definition | A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). |
| Synonym | cafe au lait spots with pulmonic stenosis cafe-au-lait macules with pulmonary stenosis cafe-au-lait spots with pulmonic stenosis café-au-lait macules with pulmonary stenosis café-au-lait macules with pulmonary stenosis (disorder) pulmonic stenosis with cafe au lait spots pulmonic stenosis with cafe-au-lait spots syndrome watsons syndrome, watson watson's syndrome watson's syndrome (disorder) wtsn |
| Orphanet | |
| OMIM | |
| UMLS | C0553586 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1636 |
|---|---|
| Disease | watson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0004322 | Stature below 3rd percentile HP:0009737 | Lisch nodules HP:0001067 | Neurofibromas HP:0004482 | Macrocephaly, relative HP:0000997 | Axillary freckling HP:0001626 | Cardiovascular abnormality HP:0007565 | Multiple cafe-au-lait spots |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1636 |
|---|---|
| Disease | watson syndrome |
| Manually Symptom | (Waiting for update.) |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267606606 | NA | 4763 | NF1 | umls:C0553586 | CLINVAR | NA | 0.360542884 | NA | NF1 | 17 | 31229954 | AAT | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001626 | Abnormality of the cardiovascular system | 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 |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009737 | Lisch nodules | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0000997 | Axillary freckling | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0001067 | Neurofibromas | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004322 | Short stature | 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:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0004482 | Relative macrocephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1636 |
|---|---|
| Disease | watson syndrome |
| Case | (Waiting for update.) |