eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| laryngomalacia | ||||
| Disease ID | 1499 |
|---|---|
| Disease | laryngomalacia |
| Definition | A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain. |
| Synonym | chondromalacia of larynx laryngomalacia (disorder) laryngomalacia [disease/finding] laryngomalacias larynx chondromalacia larynx chondromalacias |
| OMIM | |
| UMLS | C0264303 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0520679 | obstructive sleep apnea | 2 C0037315 | sleep apnea syndrome | 1 C0017168 | gastroesophageal reflux disease | 1 C0017168 | oesophageal reflux | 1 C0520679 | obstructive sleep apnea syndrome | 1 C0017168 | gastroesophageal reflux | 1 C0017168 | esophageal reflux disease | 1 C0017168 | esophageal reflux | 1 C0037315 | sleep apnea | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1499 |
|---|---|
| Disease | laryngomalacia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0002778 | Abnormality of the trachea HP:0002098 | Respiratory distress HP:0001601 | Laryngomalacia HP:0004886 | Congenital laryngeal stridor |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002308 | Chiari malformation | 3 HP:0010307 | Stridor | 3 HP:0002104 | Absence of spontaneous respiration | 2 HP:0002870 | Obstructive sleep apnea | 2 HP:0002094 | Dyspnea | 1 HP:0002015 | Swallowing difficulty | 1 HP:0010535 | Sleep apnea | 1 HP:0002020 | Heartburn | 1 HP:0000969 | Dropsy | 1 HP:0000347 | Hypoplasia of mandible | 1 HP:0012027 | Laryngeal edema | 1 HP:0001252 | Hypotonia | 1 HP:0005348 | Inspiratory stridor | 1 |
| Disease ID | 1499 |
|---|---|
| Disease | laryngomalacia |
| 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:1) | ||||
|---|---|---|---|---|
| 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 |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001601 | Laryngomalacia | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| Disease ID | 1499 |
|---|---|
| Disease | laryngomalacia |
| Case | (Waiting for update.) |