eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multiple familial trichoepithelioma | ||||
| Disease ID | 1976 |
|---|---|
| Disease | multiple familial trichoepithelioma |
| Definition | Multiple familial trichoepithelioma (also known as Brooke–Spiegler syndrome and epithelioma adenoides cysticum) is a cutaneous condition characterized by multiple cystic and solid nodules appearing on the face.[1]:672 - Wikipedia Reference: https://en.wikipedia.org/wiki/multiple familial trichoepithelioma |
| Synonym | brooke-fordyce trichoepitheliomas eac epithelioma adenoides cysticum of brooke epithelioma, hereditary multiple benign cystic familial multiple trichoepitheliomata familial multiple trichoepitheliomata (disorder) hereditary multiple benign cystic epithelioma mft1 trichoepithelioma multiple familial trichoepithelioma, multiple familial, 1 |
| OMIM | |
| UMLS | C1275122 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1976 |
|---|---|
| Disease | multiple familial trichoepithelioma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0002671 | Basalioma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1976 |
|---|---|
| Disease | multiple familial trichoepithelioma |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908389 | NA | 1540 | CYLD | umls:C1275122 | CLINVAR | NA | 0.363257302 | NA | CYLD;LOC105371251 | 16 | 50791689 | A | G |
| rs121908390 | NA | 1540 | CYLD | umls:C1275122 | CLINVAR | NA | 0.363257302 | NA | CYLD;LOC105371251 | 16 | 50796443 | C | G,T |
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:0002671 | Basal cell carcinoma | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002671 | Basal cell carcinoma | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| Disease ID | 1976 |
|---|---|
| Disease | multiple familial trichoepithelioma |
| Case | (Waiting for update.) |