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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00760 | Spondyloepiphyseal dysplasia tarda | X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood ... | Congenital malformation | TRAPPC2 [HSA:6399] [KO:K20301] | |
| H02472 | Early-onset progressive encephalopathy | ... Early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by mutations in TRAPPC2L. Both TRAPPC2L and TRAPPC12 are members of the TRAPP protein complex, which functions in membrane ... | Nervous system disease |
(PEBAS) TRAPPC12 [HSA:51112] [KO:K20309] (PEERB) TRAPPC2L [HSA:51693] [KO:K20301] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |