PedAM
Pediatric Disease Annotations & Medicines
| cholesterol ester storage disease | ||||
| Disease ID | 1101 |
|---|---|
| Disease | cholesterol ester storage disease |
| Definition | An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. |
| Synonym | cesd - cholesterol ester storage disease cholesterol ester storage dis cholesterol ester storage disease (disorder) cholesterol ester storage disease [disease/finding] cholesteryl ester storage dis cholesteryl ester storage disease |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0008384 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 338 | APOB | DISEASES 1509 | CTSD | DISEASES 1583 | CYP11A1 | DISEASES 6770 | STAR | DISEASES 909 | CD1A | DISEASES 3988 | LIPA | DISEASES 5265 | SERPINA1 | DISEASES 22796 | COG2 | DISEASES 5406 | PNLIP | DISEASES 2805 | GOT1 | DISEASES 26119 | LDLRAP1 | DISEASES 3030 | HADHA | DISEASES 8513 | LIPF | DISEASES 3920 | LAMP2 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1101 |
|---|---|
| Disease | cholesterol ester storage disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1101 |
|---|---|
| Disease | cholesterol ester storage disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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