eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| giant congenital nevus | ||||
| Disease ID | 1753 |
|---|---|
| Disease | giant congenital nevus |
| Definition | A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors. |
| Synonym | bathing trunk naevus bathing trunk nevus cmns congenital giant melanocytic nevus congenital giant naevus pigmented congenital giant pigmented naevus congenital giant pigmented naevus of skin congenital giant pigmented nevus congenital giant pigmented nevus of skin congenital giant pigmented nevus of skin (disorder) giant congenital pigmented nevus giant pigmented hairy nevus giant pigmented mole giant pigmented naevus giant pigmented naevus of skin giant pigmented nevus giant pigmented nevus (morphologic abnormality) giant pigmented nevus of skin giant pigmented nevus of the skin giant pigmented nevus, nos intermediate and giant congenital naevus intermediate and giant congenital nevus melanocytic nevus syndrome, congenital nevus pigmented congenital giant |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1842036 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0007115 | thyroid ca | 1 C0238463 | papillary thyroid cancer | 1 C0027809 | neurinoma | 1 C0027830 | neurofibroma | 1 C0206728 | plexiform neurofibroma | 1 C1370659 | plexiform neurinoma | 1 C0007115 | thyroid cancer | 1 |
| 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 | 1753 |
|---|---|
| Disease | giant congenital nevus |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1753 |
|---|---|
| Disease | giant congenital nevus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0025202 | malignant melanoma |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11554290 | 18633438 | 4893 | NRAS | umls:C1842036 | UNIPROT | Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. | 0.360271442 | 2009 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | NA | 4893 | NRAS | umls:C1842036 | CLINVAR | NA | 0.360271442 | NA | NRAS | 1 | 114713908 | T | G,C,A |
| rs121434595 | NA | 4893 | NRAS | umls:C1842036 | CLINVAR | NA | 0.360271442 | NA | NRAS | 1 | 114716124 | C | T,G,A |
| rs121913254 | NA | 4893 | NRAS | umls:C1842036 | CLINVAR | NA | 0.360271442 | NA | NRAS | 1 | 114713909 | G | T,C |
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 | 1753 |
|---|---|
| Disease | giant congenital nevus |
| Case | (Waiting for update.) |