PedAM
Pediatric Disease Annotations & Medicines
| macroglossia | ||||
| Disease ID | 1451 |
|---|---|
| Disease | macroglossia |
| Synonym | cong macroglossia congenital hypertrophy of tongue congenital macroglossia congenital macroglossia (disorder) congenital tongue hypertrophy enlarged tongue giant tongue |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0009677 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0004903 | beckwith-wiedemann syndrome | 5 C0002726 | amyloidosis | 2 C0026848 | muscular disorders | 1 C0520679 | obstructive sleep apnea | 1 C0027868 | neuromuscular disorders | 1 C0004903 | beckwith wiedemann syndrome | 1 C0002736 | amyotrophic lateral sclerosis | 1 C0268407 | cardiac amyloidosis | 1 C0020676 | hypothyroidism | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1451 |
|---|---|
| Disease | macroglossia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0000158 | Abnormally large tongue |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0011034 | Amyloid disease | 2 HP:0005280 | Flat, nasal bridge | 1 HP:0002307 | Sialorrhea | 1 HP:0012721 | Venous malformations | 1 HP:0000821 | Underactive thyroid | 1 HP:0100665 | Angiooedema | 1 HP:0003271 | Visceromegaly | 1 HP:0007354 | Amyotrophic lateral sclerosis | 1 HP:0000476 | Cystic hygroma | 1 HP:0000194 | Slack jawed appearance | 1 HP:0000160 | Small mouth | 1 HP:0000154 | Large mouth | 1 HP:0010807 | Open bite between upper and lower teeth | 1 HP:0030843 | Cardiac amyloidosis | 1 HP:0010866 | Congenital anterior abdominal wall defect | 1 HP:0000221 | Scrotal tongue | 1 HP:0002459 | Dysautonomia | 1 HP:0002781 | Upper airway obstruction | 1 HP:0002870 | Obstructive sleep apnea | 1 |
| Disease ID | 1451 |
|---|---|
| Disease | macroglossia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0009677 | amlodipine | D017311 | 88150-42-9 | macroglossia | MESH:D008260 | marker/mechanism | 21330681 | ||
| C0009677 | enalapril | D004656 | 75847-73-3 | macroglossia | MESH:D008260 | marker/mechanism | 12173515 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |