PedAM
Pediatric Disease Annotations & Medicines
| cystinosis, nephropathic | ||||
| Disease ID | 1368 |
|---|---|
| Disease | cystinosis, nephropathic |
| Synonym | cystine diatheses cystine diathesis cystine disease cystine diseases cystine storage disease cystine storage diseases cystinoses cystinoses, nephropathic cystinosin, defect of cystinosis cystinosis (disorder) cystinosis (disorder) [ambiguous] cystinosis [disease/finding] cystinosis [dup] cystinosis [dup] (disorder) cystinosis, nos defect of cystinosin defect of cystinosins diatheses, cystine diathesis, cystine lysosomal cystine transport protein, defect of nephropathic cystinoses storage disease, cystine storage diseases, cystine |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0015624 | fanconi syndrome | 5 C0004775 | bartter syndrome | 2 C0022658 | renal disease | 2 C0030312 | pancytopenia | 1 C0021831 | bowel disease | 1 C0878544 | cardiomyopathy | 1 C0019569 | hirschsprung's disease | 1 C0017605 | angle-closure glaucoma | 1 C0017601 | glaucoma | 1 C0021390 | inflammatory bowel disease | 1 C0020443 | hypercholesterolemia | 1 C0022658 | renal diseases | 1 C0020676 | hypothyroidism | 1 C0017919 | glycogen storage disease | 1 C0017919 | glycogen storage diseases | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1368 |
|---|---|
| Disease | cystinosis, nephropathic |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0001948 | Alkalosis | 3 HP:0200114 | Metabolic alkalosis | 3 HP:0001994 | 'de toni-fanconi-debre' syndrome | 2 HP:0003124 | Elevated serum cholesterol | 1 HP:0000114 | Proximal tubular defect | 1 HP:0001876 | Low blood cell count | 1 HP:0001638 | Cardiomyopathy | 1 HP:0000501 | Glaucoma | 1 HP:0000613 | Extreme light sensitivity | 1 HP:0003076 | Glucosuria | 1 HP:0000103 | Polyuria | 1 HP:0100812 | bad breath | 1 HP:0002902 | Hyponatremia | 1 HP:0011967 | Hypocupremia | 1 HP:0007099 | Arnold Chiari type I malformation | 1 |
| Disease ID | 1368 |
|---|---|
| Disease | cystinosis, nephropathic |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (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:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C2931187 | cysteamine | D003543 | 60-23-1 | cystinosis | MESH:D003554 | therapeutic | 22532830 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |