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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00900 | Geleophysic dysplasia | Geleophysic dysplasia (GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, ... | Congenital malformation |
(GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430] (GPHYSD2) FBN1 [HSA:2200] [KO:K06825] (GPHYSD3) LTBP3 [HSA:4054] [KO:K08023] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |