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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00572 | Roberts-SC phocomelia syndrome | ... craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia is milder with less marked limb reduction. Mutations in the ESCO2 gene have been detected in both disorders. | Congenital malformation | ESCO2 [HSA:157570] [KO:K11268] | |
| H02581 | Juberg-Hayward syndrome | ... and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. It has been reported that JHS is caused by mutations in ESCO2, a gene involved in cohesin complex formation. | Congenital malformation | ESCO2 [HSA:157570] [KO:K11268] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |