eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| factor xiii deficiency | ||||
| Disease ID | 1562 |
|---|---|
| Disease | factor xiii deficiency |
| Definition | A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis. |
| Synonym | defic factor xiii deficiencies, factor xiii deficiency of factor xiii deficiency, factor xiii deficiency, laki-lorand factor factor xiii defic factor xiii deficiencies factor xiii deficiency [disease/finding] factor xiii deficiency disease factor xiii deficiency disease (disorder) factor xiii deficiency disease, nos factor xiii deficiency, congenital fibrin stabilising factor deficiency fibrin stabilizing factor deficiency fibrin stabilizing factor deficiency, congenital fibrinase deficiency, congenital hereditary factor xiii deficiency hereditary factor xiii deficiency disease hereditary factor xiii deficiency disease (disorder) hereditary fibrin stabilizing factor deficiency laki-lorand factor deficiency disease laki-lorand factor deficiency, congenital |
| DOID | |
| UMLS | C0015530 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0085273 | parvovirus b19 infection | 2 C0003873 | rheumatoid arthritis | 1 C0021359 | infertility | 1 C0040034 | thrombocytopenia | 1 C0034152 | henoch-schonlein purpura | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 2 | A2M | 1.139 | DISEASES 2160 | F11 | 1.899 | DISEASES 2165 | F13B | 5.471 | DISEASES 2152 | F3 | 4.081 | DISEASES 2153 | F5 | 1.809 | DISEASES 2155 | F7 | 2.697 | DISEASES 2335 | FN1 | 1.364 | DISEASES 2877 | GPX2 | 2.2 | DISEASES 462 | SERPINC1 | 2.442 | DISEASES 5345 | SERPINF2 | 3.193 | DISEASES 23038 | WDTC1 | 1.788 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1562 |
|---|---|
| Disease | factor xiii deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0012223 | Ruptured spleen | 2 HP:0001873 | Low platelet count | 1 HP:0000789 | Infertility | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0100309 | Subdural hemorrhage | 1 HP:0001892 | Bleeding diathesis | 1 HP:0004942 | Aortic aneurysm | 1 |
| Disease ID | 1562 |
|---|---|
| Disease | factor xiii deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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) | |
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| (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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1562 |
|---|---|
| Disease | factor xiii deficiency |
| Case | (Waiting for update.) |