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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02558 | Craniotubular dysplasia, Ikegawa type | ... sclerosing bone disorder characterized by childhood-onset short-limbed short stature and head deformities. It has been reported that deficiency of TMEM53 causes CTDI by dysregulation of BMP-SMAD signaling. | Congenital malformation | TMEM53 [HSA:79639] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |