eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| subcorneal pustular dermatosis | ||||
| Disease ID | 1237 |
|---|---|
| Disease | subcorneal pustular dermatosis |
| Synonym | dermatoses, subcorneal pustular dermatosis, subcorneal pustular pustular dermatoses, subcorneal pustular dermatosis, subcorneal sneddon wilkinson dis sneddon wilkinson disease sneddon-wilkinson disease sneddon-wilkinson disease or syndrome sneddon-wilkinson syndrome subcorneal pust dermatos subcorneal pustular dermatoses subcorneal pustular dermatosis (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0600336 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | (Waiting for update.) |
| Disease ID | 1237 |
|---|---|
| Disease | subcorneal pustular dermatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0010783 | Erythema HP:0200039 | Pustule HP:0010702 | Increased antibody level in blood HP:0002960 | Autoimmunity HP:0000989 | Pruritus HP:0000953 | Hyperpigmentation of the skin HP:0006775 | Multiple myeloma HP:0001370 | Rheumatoid arthritis HP:0002725 | Systemic lupus erythematosus HP:0000821 | Hypothyroidism HP:0000836 | Hyperthyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1237 |
|---|---|
| Disease | subcorneal pustular dermatosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002725 | Systemic lupus erythematosus | MP:0004801 | increased susceptibility to systemic lupus erythematosus | greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs |
| HP:0000953 | Hyperpigmentation of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0010702 | Increased antibody level in blood | MP:0012336 | decreased vitamin D level | reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalci |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000836 | Hyperthyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0006775 | Multiple myeloma | MP:0011965 | decreased total retina thickness | decreased width of the retina through the center plane |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010702 | Increased antibody level in blood | 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 |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000953 | Hyperpigmentation 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:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002725 | Systemic lupus erythematosus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001370 | Rheumatoid arthritis | MP:0011882 | enlarged duodenum | increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum |
| HP:0200039 | Pustule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| Disease ID | 1237 |
|---|---|
| Disease | subcorneal pustular dermatosis |
| Case | (Waiting for update.) |