eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| proliferating trichilemmal cyst | ||||
| Disease ID | 1847 |
|---|---|
| Disease | proliferating trichilemmal cyst |
| Definition | A neoplasm with tricholemmal differentiation. It affects women more frequently than men. It usually presents on the scalp as a solitary, multilobular, large, exophytic mass. Morphologically, it may display benign cytological features and appear as a circumscribed solid-cystic neoplasm or it may display malignant characteristics and invasive features. Cases without malignant characteristics usually have an indolent course. Complete surgical excision is recommended in such cases to avoid recurrences and to allow complete examination of the specimen. Cases with malignant characteristics may have a locally aggressive clinical course, recur, or metastasize. |
| Synonym | pilar tumor pilar tumor (morphologic abnormality) pilar tumors pilar tumour proliferating pilar cyst proliferating pilar cyst (disorder) proliferating pilar tumor proliferating trichilemmal tumor proliferating trichilemmal tumour proliferating tricholemmal cyst proliferating tricholemmal tumor trichilemmal proliferating cyst |
| Orphanet | |
| UMLS | C0345992 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1847 |
|---|---|
| Disease | proliferating trichilemmal cyst |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1847 |
|---|---|
| Disease | proliferating trichilemmal cyst |
| 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: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:0002209 | Sparse scalp hair | MP:0011195 | increased hair follicle apoptosis | greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0200040 | Epidermoid cyst | MP:0011940 | decreased food intake | reduction in the total number of calories/food amount taken in over time when compared to the normal state |
| HP:0002209 | Sparse scalp hair | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1847 |
|---|---|
| Disease | proliferating trichilemmal cyst |
| Case | (Waiting for update.) |