eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| diffuse cutaneous systemic sclerosis | ||||
| Disease ID | 423 |
|---|---|
| Disease | diffuse cutaneous systemic sclerosis |
| Definition | A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. |
| Synonym | dcssc diffuse cutaneous scleroderma diffuse sclerosis systemic diffuse systemic scleroses diffuse systemic sclerosis dssc progressive scleroderma progressive systemic sclerosis (disorder) scleroderma, diffuse [disease/finding] scleroderma, progressive scleroderma, sudden onset sclerodermas, sudden onset scleroses, diffuse systemic sclerosis, diffuse systemic sclerosis, progressive systemic sudden onset scleroderma sudden onset sclerodermas systemic scleroses, diffuse systemic sclerosis, diffuse systemic sclerosis, diffuse (disorder) systemic sclerosis, progressive |
| Orphanet | |
| DOID | |
| UMLS | C1258104 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0034069 | pulmonary fibrosis | 2 C0020538 | hypertension | 2 C0020542 | pulmonary hypertension | 2 C0034069 | lung fibrosis | 1 C0003864 | arthritis | 1 C0024523 | malabsorption | 1 C0034735 | raynaud's phenomenon | 1 C0037274 | skin disease | 1 C0042384 | vasculitis | 1 C0032027 | pityriasis rubra pilaris | 1 C0026272 | mixed connective tissue disease | 1 C0027121 | myositis | 1 C0009782 | connective tissue disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 423 |
|---|---|
| Disease | diffuse cutaneous systemic sclerosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0000670 | Carious teeth HP:0002094 | Dyspnea HP:0002015 | Dysphagia HP:0002960 | Autoimmunity HP:0100585 | Telangiectasia of the skin HP:0000217 | Xerostomia HP:0030142 | Abnormal bowel sounds HP:0002797 | Osteolysis HP:0000083 | Renal insufficiency HP:0001635 | Congestive heart failure HP:0002829 | Arthralgia HP:0001371 | Flexion contracture HP:0002206 | Pulmonary fibrosis HP:0100520 | Oliguria HP:0002113 | Pulmonary infiltrates HP:0002017 | Nausea and vomiting HP:0200042 | Skin ulcer HP:0100735 | Hypertensive crisis HP:0002024 | Malabsorption HP:0002020 | Gastroesophageal reflux HP:0100958 | Narrow foramen obturatorium HP:0000951 | Abnormality of the skin HP:0030016 | Dyspareunia HP:0001369 | Arthritis HP:0001324 | Muscle weakness HP:0002092 | Pulmonary arterial hypertension |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0002092 | Pulmonary artery hypertension | 2 HP:0000822 | Hypertension | 2 HP:0002206 | Pulmonary fibrosis | 2 HP:0001369 | Arthritis | 1 HP:0003414 | Atlantoaxial subluxation | 1 HP:0100614 | Muscle inflammation | 1 HP:0001878 | Haemolytic anaemia | 1 HP:0200037 | Skin vesicle | 1 HP:0002024 | Intestinal malabsorption | 1 HP:0010766 | Ectopic calcification | 1 HP:0030880 | Raynaud phenomenon | 1 HP:0012378 | Fatigue | 1 |
| Disease ID | 423 |
|---|---|
| Disease | diffuse cutaneous systemic sclerosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000951 | Abnormality of the skin | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100735 | Hypertensive crisis | MP:0011414 | erythruria | passage of red colored urine |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0000217 | Xerostomia | 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:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000951 | Abnormality of the skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 423 |
|---|---|
| Disease | diffuse cutaneous systemic sclerosis |
| Case | (Waiting for update.) |