eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| scurvy | ||||
| Disease ID | 1270 |
|---|---|
| Disease | scurvy |
| Definition | An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs. |
| Synonym | hypoascorbemia hypoascorbemias scorbutus scurvies scurvy (disorder) scurvy [disease/finding] vitamin c, inability to synthesize |
| OMIM | |
| DOID | |
| UMLS | C0036474 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0004153 | atherosclerosis | 1 C0034150 | purpura | 1 C0020542 | pulmonary hypertension | 1 C0004352 | autism | 1 C0018801 | heart failure | 1 C0949690 | spondyloarthritis | 1 C0020538 | hypertension | 1 C0376480 | gingival enlargement | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:27) 262 | AMD1 | 1.739 | DISEASES 23141 | ANKLE2 | 3.757 | DISEASES 632 | BGLAP | 1.769 | DISEASES 840 | CASP7 | 1.506 | DISEASES 9859 | CEP170 | 3.058 | DISEASES 91851 | CHRDL1 | 3.168 | DISEASES 51071 | DERA | 3.173 | DISEASES 54583 | EGLN1 | 1.899 | DISEASES 3266 | ERAS | 2.256 | DISEASES 2200 | FBN1 | 1.288 | DISEASES 9464 | HAND2 | 1.713 | DISEASES 3043 | HBB | 1.052 | DISEASES 3077 | HFE | 1.571 | DISEASES 3240 | HP | 2.621 | DISEASES 4522 | MTHFD1 | 2.333 | DISEASES 58484 | NLRC4 | 1.948 | DISEASES 5034 | P4HB | 2.584 | DISEASES 10549 | PRDX4 | 3.474 | DISEASES 871 | SERPINH1 | 1.287 | DISEASES 6439 | SFTPB | 1.825 | DISEASES 9962 | SLC23A2 | 3.729 | DISEASES 6513 | SLC2A1 | 1.589 | DISEASES 6696 | SPP1 | 1.485 | DISEASES 10011 | SRA1 | 2.21 | DISEASES 80312 | TET1 | 2.624 | DISEASES 200424 | TET3 | 2.749 | DISEASES 7784 | ZP3 | 2.621 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1270 |
|---|---|
| Disease | scurvy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0001939 | Laboratory abnormality |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0000979 | Purpura | 2 HP:0002621 | Atherosclerosis | 1 HP:0000717 | Autism | 1 HP:0001300 | Parkinsonism | 1 HP:0002584 | Intestinal hemorrhage | 1 HP:0001635 | Congestive heart failure | 1 HP:0002239 | Gastrointestinal hemorrhage | 1 HP:0000573 | Retinal hemorrhage | 1 HP:0000212 | Gingival overgrowth | 1 HP:0012378 | Fatigue | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0001708 | Impaired right ventricular function | 1 HP:0000822 | Hypertension | 1 HP:0001263 | Developmental retardation | 1 |
| Disease ID | 1270 |
|---|---|
| Disease | scurvy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| 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:1) | ||||
|---|---|---|---|---|
| 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 |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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 |
| Disease ID | 1270 |
|---|---|
| Disease | scurvy |
| Case | (Waiting for update.) |