eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital rubella | ||||
| Disease ID | 1416 |
|---|---|
| Disease | congenital rubella |
| Definition | Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. (From Dorland, 27th ed) |
| Synonym | congen rubella syndrome congenital rubella syndrome congenital rubella syndrome (disorder) congenital rubella syndromes gestational rubella syndrome gestational rubella syndrome (disorder) gregg's syndrome rubella congenital rubella congenital syndrome rubella syndrome congen rubella syndrome, congenital rubella syndrome, congenital [disease/finding] rubella syndromes, congenital syndrome congen rubella syndrome rubella congenital syndrome, congenital rubella syndromes, congenital rubella |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0035921 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0011847 | diabetes | 4 C0004352 | autism | 3 C0086543 | cataract | 2 C0020538 | hypertension | 2 C0020542 | pulmonary hypertension | 2 C0040560 | congenital toxoplasmosis | 1 C0004352 | autistic disorder | 1 C0004352 | infantile autism | 1 C0086543 | cataracts | 1 C0035920 | rubella | 1 C0042769 | virus infection | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1416 |
|---|---|
| Disease | congenital rubella |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000519 | Cataracts, lenticular, bilateral | 3 HP:0000717 | Autism | 3 HP:0000518 | Cataract | 3 HP:0000822 | Hypertension | 2 HP:0002092 | Pulmonary artery hypertension | 2 HP:0000365 | Hearing impairment | 2 HP:0030680 | Abnormality of cardiovascular system morphology | 1 HP:0100033 | Tic disorder | 1 HP:0000078 | Genital abnormalities | 1 |
| Disease ID | 1416 |
|---|---|
| Disease | congenital rubella |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:25) C2020541 | strabismus C1455718 | ventriculitis C1402315 | vascular lesions C1333160 | lipoma of the corpus callosum C1265769 | multiple aneurysms C0850497 | immune deficiency C0599750 | hormone deficiency C0581883 | deafness C0520736 | coombs positive hemolytic anemia C0376293 | stigmata C0260662 | hearing disorders C0042769 | virus infection C0042749 | viraemia C0040156 | thyrotoxicosis C0040034 | thrombocytopenia C0038449 | arterial stenosis C0035333 | retinitis C0032305 | pneumocystis carinii pneumonia C0027613 | neonatal hepatitis C0020676 | hypothyroidism C0019295 | direct inguinal hernia C0015230 | rashes C0015230 | rash C0008626 | chromosomal abnormality C0004352 | autism |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1416 |
|---|---|
| Disease | congenital rubella |
| Case | (Waiting for update.) |