eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| calciphylaxis | ||||
| Disease ID | 982 |
|---|---|
| Disease | calciphylaxis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:11) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C1611707 | penile necrosis | 2 C0037284 | skin lesions | 2 C0022660 | acute renal failure | 1 C0002992 | angiomatosis | 1 C0030193 | pain | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0003774 | Stage 5 chronic kidney disease | MP:0011534 | granular kidney | a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the develop |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011986 | Ectopic ossification | MP:0005607 | decreased bleeding time | less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0003774 | Stage 5 chronic kidney disease | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0003207 | Arterial calcification | MP:0005607 | decreased bleeding time | less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| 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:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000867 | Secondary hyperparathyroidism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100758 | Gangrene | MP:0011517 | hyperoxaluria | abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones |
| HP:0100658 | Cellulitis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000965 | Cutis marmorata | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0002905 | Hyperphosphatemia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| Disease ID | 982 |
|---|---|
| Disease | calciphylaxis |
| Case | (Waiting for update.) |