eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemoglobin d disease | ||||
| Disease ID | 1688 |
|---|---|
| Disease | hemoglobin d disease |
| Definition | A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin D), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. |
| Synonym | haemoglobin d disease haemoglobin d-d disease hb d-disease hb-d disease hemoglobin d disease (disorder) hemoglobin d-d disease homozygous for hb d |
| Orphanet | |
| DOID | |
| UMLS | C0272080 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:2) |
| Locus | Symbol | Locus(Total Locus:1) HBB | 11p15.4 |
| Disease ID | 1688 |
|---|---|
| Disease | hemoglobin d disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1688 |
|---|---|
| Disease | hemoglobin d disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0376545 | hematological malignancy |
| 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 | 1688 |
|---|---|
| Disease | hemoglobin d disease |
| Case | (Waiting for update.) |