eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemoglobin c disease | ||||
| Disease ID | 1069 |
|---|---|
| Disease | hemoglobin c disease |
| Definition | A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice. |
| Synonym | c disease, hemoglobin c diseases, hemoglobin haemoglobin c disease haemoglobin c-c disease hb c-disease hb-c disease hemoglobin c dis hemoglobin c disease (disorder) hemoglobin c disease [disease/finding] hemoglobin c diseases hemoglobin c-c disease hemoglobin-c disease hemoglobin-c diseases homozygous for hb c |
| Orphanet | |
| DOID | |
| UMLS | C0019021 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | Symbol | Locus(Total Locus:1) HBB | 11p15.4 |
| Disease ID | 1069 |
|---|---|
| Disease | hemoglobin c disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1069 |
|---|---|
| Disease | hemoglobin c disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0376544 | hematopoietic tumor |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1069 |
|---|---|
| Disease | hemoglobin c disease |
| Case | (Waiting for update.) |