eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| keratosis follicularis spinulosa decalvans | ||||
| Disease ID | 1183 |
|---|---|
| Disease | keratosis follicularis spinulosa decalvans |
| Definition | Keratosis follicularis spinulosa decalvans (also known as Siemens-1 syndrome) is a rare X-linked disorder described by Siemens in 1926, a disease that begins in infancy with keratosis pilaris localized on the face, then evolves to more diffuse involvement.[1]:580,762[2]:649,714[3] - Wikipedia Reference: https://en.wikipedia.org/wiki/keratosis follicularis spinulosa decalvans |
| Synonym | keratosis pilaris decalvans keratosis pilaris decalvans (disorder) |
| Orphanet | |
| UMLS | C0343057 |
| 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 | Symbol | Locus(Total Locus:3) |
| Disease ID | 1183 |
|---|---|
| Disease | keratosis follicularis spinulosa decalvans |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1183 |
|---|---|
| Disease | keratosis follicularis spinulosa decalvans |
| 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 |
| rs587776867 | NA | 51360 | MBTPS2 | umls:C0343057 | CLINVAR | NA | 0.243257302 | NA | MBTPS2 | X | 21882618 | A | G |
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 | 1183 |
|---|---|
| Disease | keratosis follicularis spinulosa decalvans |
| Case | (Waiting for update.) |