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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02169 | Hennekam lymphangiectasia-lymphedema syndrome | ... lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1, an extracellular matrix protein essential for the development of the lymphatic vasculature, have ... | Congenital malformation |
(HKLLS1) CCBE1 [HSA:147372] [KO:K19638] (HKLLS2) FAT4 [HSA:79633] [KO:K16669] (HKLLS3) ADAMTS3 [HSA:9508] [KO:K08619] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |