eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital lobar emphysema | ||||
| Disease ID | 1899 |
|---|---|
| Disease | congenital lobar emphysema |
| Definition | A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis. |
| Synonym | cle - congenital lobar emphysema congenital emphysema congenital emphysema (disorder) congenital lobar emphysema (disorder) congenital lobar emphysema [ambiguous] emphysema, congenital emphysema, congenital lobar infantile lobar emphysema |
| Orphanet | |
| OMIM | |
| UMLS | C0265797 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1899 |
|---|---|
| Disease | congenital lobar emphysema |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0006539 | Bronchial cartilage hypoplasia HP:0002098 | Respiratory distress HP:0002097 | Emphysema HP:0010978 | Abnormality of immune system physiology |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1899 |
|---|---|
| Disease | congenital lobar emphysema |
| 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) | |
|---|---|
| (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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002098 | Respiratory distress | MP:0001954 | respiratory distress | physical difficulty or inability to breathe; shortness of breath |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002097 | Emphysema | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002098 | Respiratory distress | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| Disease ID | 1899 |
|---|---|
| Disease | congenital lobar emphysema |
| Case | (Waiting for update.) |