eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| afibrinogenemia, congenital | ||||
| Disease ID | 1781 |
|---|---|
| Disease | afibrinogenemia, congenital |
| Definition | An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. |
| Synonym | afibrinogenaemia, congenital afibrinogenaemias, congenital afibrinogenemia, familial afibrinogenemias, congenital afibrinogenemias, familial congenital afibrinogenaemia congenital afibrinogenaemia (disorder) congenital afibrinogenaemias congenital afibrinogenemia congenital afibrinogenemia (disorder) congenital afibrinogenemias congenital hypofibrinogenemia (disorder) congenital hypofibrinogenemias familial afibrinogenemia familial afibrinogenemias hypofibrinogenemia, congenital hypofibrinogenemias, congenital |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0019250 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0042345 | varices | 1 C0007642 | cellulitis | 1 C0034065 | pulmonary embolism | 1 C0022408 | arthropathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 11093 | ADAMTS13 | 1.59 | DISEASES 79969 | ATAT1 | 1.864 | DISEASES 721 | C4B | 2.175 | DISEASES 629 | CFB | 2.192 | DISEASES 3426 | CFI | 4.475 | DISEASES 1378 | CR1 | 3.247 | DISEASES 2160 | F11 | 3.081 | DISEASES 2152 | F3 | 3.158 | DISEASES 2155 | F7 | 2.002 | DISEASES 2157 | F8 | 3.533 | DISEASES 2266 | FGG | 6.715 | DISEASES 2335 | FN1 | 2.032 | DISEASES 3561 | IL2RG | 2.248 | DISEASES 9227 | LRAT | 2.632 | DISEASES 23218 | NBEAL2 | 1.971 | DISEASES 5900 | RALGDS | 2.695 | DISEASES 113675 | SDSL | 2.039 | DISEASES 462 | SERPINC1 | 2.667 | DISEASES 23038 | WDTC1 | 2.063 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1781 |
|---|---|
| Disease | afibrinogenemia, congenital |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002204 | Pulmonary embolism | 1 HP:0012223 | Ruptured spleen | 1 HP:0100658 | Bacterial infection of skin | 1 HP:0012062 | Bone cysts | 1 HP:0001907 | Thromboembolic disease | 1 HP:0003040 | Arthropathy | 1 |
| Disease ID | 1781 |
|---|---|
| Disease | afibrinogenemia, congenital |
| Manually Symptom | (Waiting for update.) |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1781 |
|---|---|
| Disease | afibrinogenemia, congenital |
| Case | (Waiting for update.) |