eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| atrichia with papular lesions | ||||
| Disease ID | 1262 |
|---|---|
| Disease | atrichia with papular lesions |
| Definition | The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. |
| Synonym | atrichia with papular lesions (disorder) papular atrichia |
| Orphanet | |
| OMIM | |
| UMLS | C1859592 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:31) 176 | ACAN | 1.111 | DISEASES 101 | ADAM8 | 2.006 | DISEASES 116 | ADCYAP1 | 1.739 | DISEASES 55256 | ADI1 | 2.5 | DISEASES 488 | ATP2A2 | 1.657 | DISEASES 857 | CAV1 | 1.007 | DISEASES 388372 | CCL4L1 | 1.323 | DISEASES 965 | CD58 | 1.606 | DISEASES 1280 | COL2A1 | 1.475 | DISEASES 2152 | F3 | 1.085 | DISEASES 2739 | GLO1 | 2.171 | DISEASES 3065 | HDAC1 | 1.181 | DISEASES 3329 | HSPD1 | 1.212 | DISEASES 3363 | HTR7 | 1.725 | DISEASES 3725 | JUN | 2.784 | DISEASES 83463 | MXD3 | 3.498 | DISEASES 2649 | NR6A1 | 2.522 | DISEASES 83593 | RASSF5 | 2.811 | DISEASES 9939 | RBM8A | 1.736 | DISEASES 83695 | RHNO1 | 1.34 | DISEASES 253260 | RICTOR | 2.031 | DISEASES 6303 | SAT1 | 3.078 | DISEASES 6336 | SCN10A | 1.432 | DISEASES 5345 | SERPINF2 | 1.268 | DISEASES 8671 | SLC4A4 | 1.964 | DISEASES 9498 | SLC4A8 | 2.291 | DISEASES 29110 | TBK1 | 1.968 | DISEASES 7033 | TFF3 | 1.806 | DISEASES 51284 | TLR7 | 1.191 | DISEASES 7421 | VDR | 2.083 | DISEASES 7432 | VIP | 1.066 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) HR | 8p21.3 |
| Disease ID | 1262 |
|---|---|
| Disease | atrichia with papular lesions |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1262 |
|---|---|
| Disease | atrichia with papular lesions |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0015230 | rash |
| 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 |
| rs121434449 | NA | 55806 | HR | umls:C1859592 | CLINVAR | NA | 0.44 | NA | HR | 8 | 22123727 | G | A |
| rs121434450 | NA | 55806 | HR | umls:C1859592 | CLINVAR | NA | 0.44 | NA | HR | 8 | 22115744 | G | A |
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:0007482 | Generalized papillary lesions | MP:0001212 | skin lesions | focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007482 | Generalized papillary lesions | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0001006 | Hypotrichosis | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| Disease ID | 1262 |
|---|---|
| Disease | atrichia with papular lesions |
| Case | (Waiting for update.) |