eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| atransferrinemia | ||||
| Disease ID | 1643 |
|---|---|
| Disease | atransferrinemia |
| Definition | Absence of transferrin, a protein that transports iron, in the blood. [HPO:probinson] |
| Synonym | congenital atransferinaemia congenital atransferinemia congenital atransferinemia (disorder) congenital atransferrinaemia congenital atransferrinemia congenital atransferrinemia (disorder) familial hypotransferrinemia hereditary atransferrinemia hypotransferrinemia, familial |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0521802 |
| 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:10) |
| Locus | (Waiting for update.) |
| Disease ID | 1643 |
|---|---|
| Disease | atransferrinemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0001635 | Congestive heart failure HP:0001931 | Hypochromic anaemia HP:0012239 | Atransferrinemia HP:0001392 | Abnormality of the liver |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1643 |
|---|---|
| Disease | atransferrinemia |
| Manually Symptom | (Waiting for update.) |
| 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001931 | Hypochromic anemia | MP:0008387 | hypochromic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs |
| HP:0001392 | Abnormality of the liver | 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 |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001931 | Hypochromic anemia | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0012239 | Atransferrinemia | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001392 | Abnormality of the liver | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| Disease ID | 1643 |
|---|---|
| Disease | atransferrinemia |
| Case | (Waiting for update.) |