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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01816 | Frank-ter Haar syndrome | ... deformity of the fingers. The most common underlying genetic defect in FTHS appears to be a mutation in the SH3PXD2B gene. Patients appeared to share many of the craniofacial and skeletal features normally associated ... | Congenital malformation | SH3PXD2B [HSA:285590] [KO:K24032] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |