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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02239 | Ehlers-Danlos syndrome, spondylodysplastic type | ... spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature ... | Congenital malformation |
(EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733] (EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734] (EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |