eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| transient bullous dermolysis of the newborn | ||||
| Disease ID | 1809 |
|---|---|
| Disease | transient bullous dermolysis of the newborn |
| Definition | Transient bullous dermolysis of the newborn (TBDN) is a skin condition that presents in newborns. It is characterized by blister formation secondary to even mild trauma.[1]:558 - Wikipedia Reference: https://en.wikipedia.org/wiki/transient bullous dermolysis of the newborn |
| Synonym | dystrophic epidermolysis bullosa, dominant neonatal dystrophic epidermolysis bullosa, neonatal epidermolysis bullosa dystrophica, dominant neonatal form epidermolysis bullosa dystrophica, neonatal form tbdn |
| Orphanet | |
| OMIM | |
| UMLS | C1851573 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) COL7A1 | 3p21.31 |
| Disease ID | 1809 |
|---|---|
| Disease | transient bullous dermolysis of the newborn |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0008066 | Skin bullae HP:0001075 | Atrophic scars HP:0008404 | Nail dystrophy HP:0001939 | Laboratory abnormality HP:0001053 | Hypopigmented skin patches HP:0200097 | Oral mucosal blisters HP:0001056 | Milia HP:0008404 | Dystrophic nails HP:0001030 | Fragile skin HP:0008066 | Abnormal blistering of the skin HP:0001075 | Thin, atrophic scars |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1809 |
|---|---|
| Disease | transient bullous dermolysis of the newborn |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912834 | NA | 1294 | COL7A1 | umls:C1851573 | CLINVAR | NA | 0.480814326 | NA | COL7A1 | 3 | 48572941 | C | T,G |
| rs121912835 | NA | 1294 | COL7A1 | umls:C1851573 | CLINVAR | NA | 0.480814326 | NA | COL7A1 | 3 | 48582616 | C | T |
| rs387906605 | NA | 1294 | COL7A1 | umls:C1851573 | CLINVAR | NA | 0.480814326 | NA | COL7A1 | 3 | 48582512 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001030 | Fragile skin | MP:0009473 | abnormal skin exfoliation | anomaly in the process of detachment and shedding of superficial cells of a skin epithelium |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001056 | Milia | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0001075 | Atrophic scars | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001030 | Fragile skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0200097 | Oral mucosal blisters | MP:0011160 | dermal-epidermal separation | the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 1809 |
|---|---|
| Disease | transient bullous dermolysis of the newborn |
| Case | (Waiting for update.) |