PedAM
Pediatric Disease Annotations & Medicines
| aromatic l-amino acid decarboxylase deficiency | ||||
| Disease ID | 1328 |
|---|---|
| Disease | aromatic l-amino acid decarboxylase deficiency |
| Synonym | aadc deficiency aromatic amino acid decarboxylase deficiency aromatic amino acid decarboxylase deficiency (disorder) ddc deficiency dopa decarboxylase deficiency |
| Orphanet | |
| OMIM | |
| UMLS | C0342686 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) DDC | 7p12.2-p12.1 |
| Disease ID | 1328 |
|---|---|
| Disease | aromatic l-amino acid decarboxylase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0000616 | Constricted pupils HP:0003785 | Decreased CSF homovanillic acid HP:0000712 | Emotional instability HP:0002014 | Diarrhea HP:0001263 | Developmental retardation HP:0005968 | Temperature instability HP:0000271 | Abnormal face HP:0002020 | Heartburn HP:0000975 | Increased sweating HP:0000737 | Irritability HP:0002615 | Low blood pressure HP:0008936 | Truncal hypotonia HP:0001266 | Choreoathetosis HP:0000508 | Drooping upper eyelid HP:0002509 | Limb hypertonia HP:0001347 | Hyperreflexia HP:0002451 | Limb dystonia HP:0002019 | Dyschezia HP:0005964 | Intermittent abnormally low body temperature HP:0002360 | Sleep disturbance HP:0008872 | Feeding difficulties in infancy HP:0003487 | Extensor plantar reflexes HP:0001336 | Myoclonic jerks |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1328 |
|---|---|
| Disease | aromatic l-amino acid decarboxylase deficiency |
| 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.) | |