PedAM

Pediatric Disease Annotations & Medicines


	congenital syphilis

Disease ID	419
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	DOID:9856
ICD10	ICD10CM:A50.9
UMLS	C0039131
MeSH	D013590
SNOMED-CT	SNOMEDCT_US_2016_09_01:35742006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0039128 \| syphilis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 9812 \| KIAA0141 \| DISEASES 4627 \| MYH9 \| DISEASES 328 \| APEX1 \| DISEASES 2137 \| EXTL3 \| DISEASES 2584 \| GALK1 \| DISEASES 5507 \| PPP1R3C \| DISEASES 968 \| CD68 \| DISEASES 6737 \| TRIM21 \| DISEASES 51196 \| PLCE1 \| DISEASES 55813 \| UTP6 \| DISEASES 1387 \| CREBBP \| DISEASES 28960 \| DCPS \| DISEASES 8034 \| SLC25A16 \| DISEASES 10563 \| CXCL13 \| DISEASES 115825 \| WDFY2 \| DISEASES 6240 \| RRM1 \| DISEASES 79660 \| PPP1R3B \| DISEASES 6578 \| SLCO2A1 \| DISEASES 23136 \| EPB41L3 \| DISEASES 26136 \| TES \| DISEASES 3664 \| IRF6 \| DISEASES 7827 \| NPHS2 \| DISEASES 9095 \| TBX19 \| DISEASES 1301 \| COL11A1 \| DISEASES 959 \| CD40LG \| DISEASES 1025 \| CDK9 \| DISEASES 5422 \| POLA1 \| DISEASES 3886 \| KRT35 \| DISEASES 10165 \| SLC25A13 \| DISEASES 6892 \| TAPBP \| DISEASES 51428 \| DDX41 \| DISEASES 6139 \| RPL17 \| DISEASES 246734 \| NPCDR1 \| DISEASES 100128252 \| ZNF667-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	419
Disease	congenital syphilis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000988 \| Exanthem \| 1

Disease ID	419
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) C0277787 \| stigmata \| 1

Manually Genotype(Total Text Mining 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000407	Sensorineural hearing impairment	MP:0006330	syndromic hearing impairment;HP:0001790	Nonimmune hydrops fetalis

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000099	Glomerulonephritis	MP:0005193	abnormal anterior eye segment morphology;HP:0000112	Nephropathy

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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