PedAM
Pediatric Disease Annotations & Medicines
| lambert syndrome | ||||
| Disease ID | 1872 |
|---|---|
| Disease | lambert syndrome |
| Synonym | branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia |
| Orphanet | |
| OMIM | |
| UMLS | C1855551 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1872 |
|---|---|
| Disease | lambert syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:22) HP:0000384 | Preauricular skin tag HP:0000952 | Jaundice HP:0001396 | Cholestasis HP:0001629 | Ventricular septal defect HP:0004313 | Decreased antibody level in blood HP:0001249 | Mental retardation HP:0000047 | Hypospadias HP:0001762 | Talipes equinovarus HP:0000272 | Malar flattening HP:0000154 | Large mouth HP:0001252 | Muscular hypotonia HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0000154 | Wide mouth HP:0000952 | Yellow skin HP:0001531 | Failure to thrive in infancy HP:0005248 | Intrahepatic atresia of biliary duct HP:0000023 | Inguinal hernia HP:0000272 | Depressed malar region HP:0001511 | Intrauterine growth retardation HP:0001249 | Intellectual disability HP:0005248 | Intrahepatic biliary atresia HP:0009794 | Branchial anomaly |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1872 |
|---|---|
| Disease | lambert syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0000098 | abnormal vomer bone morphology;HP:0000413 | Atresia of the external auditory canal |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100543 | Cognitive impairment | MP:0011250 | abdominal situs ambiguus;HP:0010669 | Hypoplasia of the zygomatic bone |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |