eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital syphilis | ||||
| Disease ID | 732 |
|---|---|
| Disease | congenital syphilis |
| Definition | Syphilis acquired in utero and manifested by any of several characteristic tooth (Hutchinson's teeth) or bone malformations and by active mucocutaneous syphilis at birth or shortly thereafter. Ocular and neurologic changes may also occur. |
| Synonym | [x]congenital syphilis, unspecified [x]congenital syphilis, unspecified (disorder) congen syphilis congenital syphilis (disorder) congenital syphilis nos congenital syphilis nos (disorder) congenital syphilis, nos congenital syphilis, unspecified syphilis congen syphilis congenital syphilis, congenital syphilis, congenital [disease/finding] |
| DOID | |
| ICD10 | |
| UMLS | C0039131 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 959 | CD40LG | 5.478 | DISEASES 1025 | CDK9 | 1.216 | DISEASES 1301 | COL11A1 | 1.977 | DISEASES 51428 | DDX41 | 3.113 | DISEASES 23136 | EPB41L3 | 2.204 | DISEASES 3664 | IRF6 | 1.126 | DISEASES 3886 | KRT35 | 2.949 | DISEASES 246734 | NPCDR1 | 1.836 | DISEASES 7827 | NPHS2 | 1.301 | DISEASES 5422 | POLA1 | 3.57 | DISEASES 6139 | RPL17 | 4.149 | DISEASES 10165 | SLC25A13 | 1.869 | DISEASES 6892 | TAPBP | 2.04 | DISEASES 9095 | TBX19 | 2.735 | DISEASES 26136 | TES | 2.778 | DISEASES 100128252 | ZNF667-AS1 | 2.533 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 732 |
|---|---|
| Disease | congenital syphilis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 732 |
|---|---|
| Disease | congenital syphilis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:39) C1398810 | glomerulopathy C1275592 | funisitis C1270169 | villitis C1000483 | anemia C0748159 | pulmonary involvement C0581883 | deafness C0455988 | nonimmune hydrops fetalis C0427543 | monocytosis C0376293 | stigmata C0343674 | acquired syphilis C0343671 | juvenile tabes dorsalis C0272198 | monocytic leukemoid reaction C0268733 | acute nephritis C0262471 | ent problem C0162323 | polyarthritis C0155550 | nerve deafness C0155088 | interstitial keratitis C0154919 | iridoschisis C0151436 | leucocytoclastic vasculitis C0040034 | thrombocytopenia C0038826 | superinfection C0030232 | pallor C0029166 | oral manifestations C0027726 | nephrotic syndrome C0024419 | macroglobulinemia C0024110 | pulmonary abscesses C0022658 | nephropathy C0022568 | keratitis C0020615 | hypoglycemia C0018784 | sensorineural hearing loss C0017675 | glossitis C0017665 | membranous glomerulonephritis C0017658 | glomerulonephritis C0017086 | gangrene C0008513 | chorioretinitis C0007684 | central nervous system infection C0005940 | bone disorders C0003504 | aortic insufficiency C0003504 | aortic incompetence |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 732 |
|---|---|
| Disease | congenital syphilis |
| Case | (Waiting for update.) |