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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00522 | Brachyolmia | ... calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4). | Congenital malformation |
(BCYM3) TRPV4 [HSA:59341] [KO:K04973] (BCYM4) PAPSS2 [HSA:9060] [KO:K13811] |
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| H00761 |
SEMD, Pakistani type Brachyolmia type 4 |
... limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported. | Congenital malformation | PAPSS2 [HSA:9060] [KO:K13811] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |