eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acatalasemia | ||||
| Disease ID | 830 |
|---|---|
| Disease | acatalasemia |
| Definition | A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. |
| Synonym | acatalasaemia acatalasemia (disorder) acatalasia acatalasia (disorder) acatalasia [disease/finding] catalase deficiency disease, takahara disease, takahara's takahara disease takahara's disease takaharas disease |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268419 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0268419 | acatalasemia | 1 C0011847 | diabetes | 1 C0011860 | type 2 diabetes | 1 C0025637 | methemoglobinemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:1) CAT | 11p13 |
| Disease ID | 830 |
|---|---|
| Disease | acatalasemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 830 |
|---|---|
| Disease | acatalasemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0017086 | gangrene |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 830 |
|---|---|
| Disease | acatalasemia |
| Case | (Waiting for update.) |