PedAM
Pediatric Disease Annotations & Medicines
| hypotonia-cystinuria syndrome | ||||
| Disease ID | 1878 |
|---|---|
| Disease | hypotonia-cystinuria syndrome |
| Synonym | cystinuria with mitochondrial disease homozygous 2p16 deletion syndrome, formerly homozygous 2p21 deletion syndrome hypotonia cystinuria syndrome hypotonia cystinuria syndrome (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1848030 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1878 |
|---|---|
| Disease | hypotonia-cystinuria syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0000787 | Nephrolithiasis HP:0001263 | Developmental retardation HP:0005280 | Flat, nasal bridge HP:0001508 | Weight faltering HP:0003128 | Lactic acidosis HP:0000286 | Epicanthus HP:0002591 | Polyphagia HP:0011398 | Central hypotonia HP:0001510 | Growth delay HP:0001252 | Hypotonia HP:0000815 | Primary hypogonadism HP:0000278 | Retrognathia HP:0000508 | Ptosis HP:0000358 | Ear, posterior angulation, increased HP:0001252 | Muscular hypotonia HP:0002007 | Frontal bossing HP:0012378 | Fatigue HP:0001611 | Nasal speech HP:0001998 | Low blood sugar in newborn HP:0000824 | Growth hormone deficiency HP:0002591 | Voracious appetite HP:0000508 | Drooping upper eyelid HP:0010804 | Inverted V-shaped upper lip HP:0002007 | Frontal protruberance HP:0000400 | Large ears HP:0000268 | Dolichocephaly HP:0000787 | Renal calculi HP:0010864 | Early and severe mental retardation HP:0001558 | Decreased fetal movement HP:0000527 | Long eyelashes HP:0008872 | Feeding difficulties in infancy HP:0001611 | Hypernasal speech HP:0001508 | Failure to thrive HP:0003131 | Cystinuria |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1878 |
|---|---|
| Disease | hypotonia-cystinuria syndrome |
| 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) | |
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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:0) | |
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| (Waiting for update.) | |
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.) | |