eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tracheomalacia | ||||
| Disease ID | 1570 |
|---|---|
| Disease | tracheomalacia |
| Definition | A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA. This results in a floppy tracheal wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing. |
| Synonym | chondromalacia of trachea trachea chondromalacia trachea chondromalacias tracheomalacia (disorder) tracheomalacia [disease/finding] tracheomalacias |
| DOID | |
| UMLS | C0948187 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0014850 | esophageal atresia | 3 C1145670 | respiratory failure | 1 C0010674 | cystic fibrosis | 1 C0012236 | 22q11.2 deletion syndrome | 1 C0004030 | aspergillosis | 1 C0152021 | congenital heart disease | 1 C0018021 | goiter | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 176 | ACAN | 1.165 | DISEASES 55107 | ANO1 | 3.474 | DISEASES 549 | AUH | 3.479 | DISEASES 650 | BMP2 | 2.177 | DISEASES 9635 | CLCA2 | 2.577 | DISEASES 22802 | CLCA4 | 2.675 | DISEASES 1280 | COL2A1 | 3.076 | DISEASES 23405 | DICER1 | 1.405 | DISEASES 1969 | EPHA2 | 1.582 | DISEASES 6453 | ITSN1 | 3.089 | DISEASES 727897 | MUC5B | 1.326 | DISEASES 9241 | NOG | 1.664 | DISEASES 103752588 | PACERR | 2.425 | DISEASES 139728 | PNCK | 2.397 | DISEASES 1827 | RCAN1 | 2.19 | DISEASES 862 | RUNX1T1 | 1.748 | DISEASES 6736 | SRY | 1.021 | DISEASES 10381 | TUBB3 | 1.945 | DISEASES 7415 | VCP | 1.508 | DISEASES 9189 | ZBED1 | 3.142 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1570 |
|---|---|
| Disease | tracheomalacia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0002032 | Esophageal atresia | 3 HP:0002575 | Tracheoesophageal fistula | 1 HP:0000853 | Goitre | 1 HP:0000078 | Genital abnormalities | 1 HP:0001607 | Subglottic stenosis | 1 HP:0004961 | Pulmonary artery sling | 1 HP:0002878 | Respiratory failure | 1 HP:0001609 | Hoarseness | 1 |
| Disease ID | 1570 |
|---|---|
| Disease | tracheomalacia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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 | 1570 |
|---|---|
| Disease | tracheomalacia |
| Case | (Waiting for update.) |