eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pemphigoid gestationis | ||||
| Disease ID | 823 |
|---|---|
| Disease | pemphigoid gestationis |
| Definition | An autoimmune bullous dermatitis that develops during pregnancy, most often during the second and third trimesters.(NICHD) |
| Synonym | dermatitis herpetiformis of pregnancy gestational herpes gestational pemphigoid gestational pemphigoids gestationi, pemphigoid gestationis, pemphigoid herpes gestationis herpes gestationis (disorder) herpes gestationis nos herpes gestationis nos (disorder) herpes gestationis unspecified herpes gestationis unspecified (disorder) pemphigoid gestationi pemphigoid gestationis [disease/finding] pemphigoid, gestational pemphigoids, gestational |
| Orphanet | |
| DOID | |
| UMLS | C0019343 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 720 | C4A | 2.516 | DISEASES 721 | C4B | 1.502 | DISEASES 959 | CD40LG | 1.619 | DISEASES 1308 | COL17A1 | 5.736 | DISEASES 51428 | DDX41 | 1.679 | DISEASES 3127 | HLA-DRB5 | 1.892 | DISEASES 3135 | HLA-G | 1.683 | DISEASES 4635 | MYL4 | 3.738 | DISEASES 5339 | PLEC | 2.005 | DISEASES 8718 | TNFRSF25 | 4.374 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 823 |
|---|---|
| Disease | pemphigoid gestationis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0008066 | Abnormal blistering of the skin HP:0001622 | Premature birth HP:0000989 | Pruritus HP:0001508 | Failure to thrive HP:0001511 | Intrauterine growth retardation HP:0200037 | Skin vesicle |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 823 |
|---|---|
| Disease | pemphigoid gestationis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C2240374 | eosinophilia |
| 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| 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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000989 | Pruritus | 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 |
| HP:0200037 | Skin vesicle | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| Disease ID | 823 |
|---|---|
| Disease | pemphigoid gestationis |
| Case | (Waiting for update.) |